Disorders/Diseases/Oddities Thread -

  • We are being DDoS attacked still and 12,000 people are reading about incest. Expect weird errors. Most should go away by refreshing. Emails (registration / password reset) appear to be working; be sure to check spam.

    THE MERGE IS ON.

Exuvia

All bleeding stops eventually.
kiwifarms.net
If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now


Also neat thread OP
It's become a meme due to House, MD, but Lupus might also be a candidate, since you mentioned your friend had to stay inside (Lupus is aggravated by sunlight exposure).
 

GenociderSyo

Syo
kiwifarms.net
neat as well

and something I just remembered, said disease caused her to have a weak immune system
Sounds like Lupus as others have said the drugs to treat it tend ot weaken the immune system.
This is a standard symptom of Lupus:
1624067502527.png
 

Carcinogenesis

Be glad you're not here
True & Honest Fan
kiwifarms.net
If there's any similar related illnesses it would be cool if anyone could mention it because I'm curious now


Also neat thread OP
Mitochondrial myopathies are diseases where the mitochondria are impaired, leading to issues with muscles. They vary in severity, fatigue and exercise intolerance are common symptoms but other symptoms depend on the pathophysiology of the disease.
 

GenociderSyo

Syo
kiwifarms.net
There's Alien Hand Syndrome, also known as Dr. Strangelove syndrome (named after the titular character from the eponymous film who had a hand that could not stop Sieg Heiling) where your hand does stuff on its own
It also can be a predescor warning of a stroke:

Alien hand syndrome is a phenomenon in which one hand is not under control of the mind. The person loses control of the hand, and it acts as if it has a mind of its own. The etiology includes neurosurgery, tumor, aneurysms, and rarely stroke (1). This case is presented to create awareness of this interesting clinical scenario, which can be terrifying to the patients and confusing to the physicians who are not aware of it.

CASE DESCRIPTION​

A 77-year-old woman with chronic atrial fibrillation had her anticoagulation stopped temporarily for spine surgery. No bridging with low-molecular-weight heparin was done. Two days later, while watching television, she noted her left hand flinging across her visual field. Her left hand stroked her face and hair without her will. She got terrified. Her attempts to control the left hand with the right hand were unsuccessful. She did not have any control of the left hand for almost 30 minutes as it continued to make purposeful movements. She later noted that her left upper limb was numb and slightly weak when she regained control. Her husband helped her to the car to take her to the hospital, and he noted that she was dragging her left leg while walking.
In the hospital, a computed tomography (CT) scan and magnetic resonance imaging (MRI) of the brain showed acute infarcts in both parietal lobes. Transthoracic and transesophageal echocardiograms did not show any evidence of thrombus. She gradually gained normal control of the left side over the next 6 hours. A diagnosis of stroke possibly due to cardioembolism was made. Her anticoagulation was resumed, and she was discharged home with advice to maintain anticoagulation at all times.

DISCUSSION​

Alien hand syndrome, or Dr. Strangelove syndrome, is an interesting situation in which a person loses control of his or her hand, which starts to act independently. It describes involuntary complex goal-directed activity of one limb. Recent usage of the term “alien hand” is more liberal and requires having observable involuntary motor activity along with the feeling that the limb is foreign or that it has a will of its own (2). The syndrome has been reported after surgery on the corpus callosum and with brain tumors, aneurysms, degenerative diseases of the brain, and uncommonly stroke. Alien hand as a manifestation of cardioembolic stroke is extremely rare, with only a few cases reported in the literature.
Lesions implicated in causing alien hand syndrome include those in the corpus callosum and/or posterior parietal cortex, supplementary motor area, and the anterior cingulate cortex. Functional MRI has been used to study brain activity in patients with alien hand syndrome (3). In normal individuals, initiation of motor activity shows activation of multiple extensive neural networks. However, in patients with alien hand syndrome, only isolated activation of the contralateral primary motor cortex is observed (3). It has been proposed that lesions in the parietal cortex result in isolated activation of the contralateral primary motor area due to its release from the intentional planning systems. Damage to the parietal cortex can also cause lack of awareness of movements due to loss of proprioceptive feedback or left hemineglect (3). The combination of these factors results in initiation of spontaneous movements without the patient's knowledge or will.
Alien hand syndrome has been reported to be associated with several abnormal involuntary movements when different regions of the brain, like the corpus callosum, parietal region, or frontal region, are involved. It can be classified into at least four categories: 1) diagnostic dyspraxia/intermanual conflict (when one hand performs actions contrary to the other hand); 2) alien hand sign (a subjective feeling that the hand is not one's own); 3) syndrome of anarchic hand (when the affected hand performs goal-directed activity not under the will of the person); and 4) supernumerary hand (a feeling of having an extra limb) (4). Another type of alien hand is the levitating hand, where the affected limb tends to levitate without volitional action (4).
Alien hand might manifest as a self-groping behavior and self-oppositional behavior (5). Autocriticism has also been reported, with the person slapping the alien hand with the normal hand. The person loses control of the affected hand as if it is being controlled by an external force. The alien hand might grab onto things and the person might have to use the other limb to release the objects from it. At extremes, the alien hand has been reported to even suffocate the patient.
There is no established treatment for alien hand. It has been reported to last for several days to several years. Alien hand as a manifestation of cardioembolic transient ischemic attack has been reported only once based on our review (6). The extremely short duration of alien hand in this case report (30 minutes) is the shortest reported duration of this phenomenon recorded.

References
1. Park YW, Kim CH, Kim MO, Jeong HJ, Jung HY. Alien hand syndrome in stroke—case report and neurophysiologic study. Ann Rehabil Med. 2012;36(4):556–560. [PMC free article] [PubMed] [Google Scholar]
2. Doody RS, Jankovic J. The alien hand and related signs. J Neurol Neurosurg Psychiatry. 1992;55(9):806–810. [PMC free article] [PubMed] [Google Scholar]
3. Assal F, Schwartz S, Vuilleumier P. Moving with or without will: functional neural correlates of alien hand syndrome. Ann Neurol. 2007;62(3):301–306. [PubMed] [Google Scholar]
4. Aboitiz F, Carrasco X, Schröter C, Zaidel D, Zaidel E, Lavados M. The alien hand syndrome: classification of forms reported and discussion of a new condition. Neurol Sci. 2003;24(4):252–257. [PubMed] [Google Scholar]
5. Feinberg TE, Schindler RJ, Flanagan NG, Haber LD. Two alien hand syndromes. Neurology. 1992;42(1):19–24. [PubMed] [Google Scholar]
6. André C, Dominques RC. Transient alien hand syndrome: is this a seizure or a transient ischaemic attack? J Neurol Neurosurg Psychiatry. 1996;60(2):232–233. [PMC free article] [PubMed] [Google Scholar]

Included Reference links if people are insterested to read more its a really interesting phenomenon.
 

Attachments

  • bumc0027-0219.pdf
    297.6 KB · Views: 7

GenociderSyo

Syo
kiwifarms.net
This one's taken a bit and is quite long since I've had the experience working with a child with this disorder and wanted to give it a good deep dive.

Osteogenesis Imperfecta
(20,000 to 50,000 individuals in the United States have some Type of OI)

Osteogenesis Imperfecta (OI) is characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. Infants of the worst types are usually born with broken limbs from the normal process of delivery as well as prenatal ones as well. Severeity is determined by type, but even that is variable within the type itself. There are four main types of OI: Type I is the most common and the mildest form of the disorder, where as OI type II is the most severe. This disorder is autosomnal dominant meaning that if someone with this disorder has kids it is pretty much gauranteed their children will have this disorder.

Osteogenesis Imperfecta Type I
This is the most common and usually the mildest form of OI. In this type multiple bone fractures usually occur during childhood and through puberty. This is usually seen when an affected child begins to walk and fractures during the newborn (neonatal) period are rare. The frequency of fractures usually declines after puberty. Repeated fractures may result in slight malformation of the bones of the arms and legs.

There is a distinctive bluish discoloration of the whites of the eyes in this type of OI. In rare cases there are abnormalities affecting the middle and/or inner ears contributing to, or resulting in, hearing impairment which occurs most often around the 30s, butin some cases as early as 20s and late as 70s. They also may have a triangular facial appearance and an abnormally large head (macrocephaly).

About half of people with this will have mild short stature and about 20% will develop scoliosis or kyphosis. Additional symptoms associated with OI type I include loose joints, low muscle tone and thin skin that bruises easily. Some researchers believe that there may be a subtype of OI 1 with dental abnormalities.

Osteogenesis Imperfecta Type 2

This is the most severe type of osteogenesis imperfecta and affected infants often experience life-threatening complications at, or shortly after, birth. They have low birth weight, abnormally short arms and legs (limbs) and bluish discoloration of the whites of the eyes.They have extremely fragile bones and numerous fractures present at birth. The ribs and long bones of the legs of affected infants are often malformed.

Infants with OI type II often have underdeveloped lungs and an abnormally small upper chest leading to respiratory insufficiency which is life threatening. In some cases, they may experience congestive heart failure. They also have small, narrow nose; a small jaw and an abnormally soft top of the skull with abnormally large soft spots. They may also have abnormally thin, fragile skin and low muscle tone. This type has been subdivided into three subgroups based on small differences in bone formation. These invidivuals are almost always wheelchair bound early on in life.

Osteogenesis Imperfecta Type 3

This type is characterized by extremely fragile bones, multiple fractures, and malformed bones. Multiple fractures are often present at birth. Fractures and malformation of various bones are progressive in some cases as affected infants and children age. This results in short stature, sideways and front-to-back curvature of the spine and malformation of the area where the bone in the back of the skull and the top of the spine meet. Some affected individuals may develop pulmonary insufficiency and respiratory problems and in severe cases individuals may require wheelchairs.

Some may have blue discoloration to the whites of the eyes, but in this type it fades during the first year of life. Affected infants may have a triangular facial appearance due to an abnormally prominent forehead and an abnormally small jaw. In some cases, hearing impairment and brittle, discolored teeth may also be present.

Osteogenesis Imperfecta Type 4

This type causes fragile bones that often fracture easily that are more common before puberty. They have mild to moderate bone malformation and are usually shorter than average and may develop scoliosis and kyphosis. They may have a triangular facial appearance and the whites of the eyes are normal or pale blue (which fades) during infancy. They may also experience hearing impairment and brittle, discolored teeth.

Type I (Dominant)
  • Most common and mildest type of OI.
  • Bones fracture easily. Most fractures occur before puberty.
  • Normal or near-normal stature.
  • Loose joints and muscle weakness.
  • Sclera (whites of the eyes) usually have a blue, purple, or gray tint.
  • Triangular face.
  • Tendency toward spinal curvature.
  • Bone deformity absent or minimal.
  • Brittle teeth possible.
  • Hearing loss possible, often beginning in early 20s or 30s.
  • Collagen structure is normal, but the amount is less than normal.
Type II (Dominant)
  • Most severe form.
  • Frequently lethal at or shortly after birth, often due to respiratory problems.
  • Numerous fractures and severe bone deformity.
  • Small stature with underdeveloped lungs.
  • Tinted sclera.
  • Collagen improperly formed.
Type III (Dominant)
  • Bones fracture easily. Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth.
  • Short stature.
  • Sclera have a blue, purple, or gray tint.
  • Loose joints and poor muscle development in arms and legs.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Spinal curvature.
  • Respiratory problems possible.
  • Bone deformity, often severe.
  • Brittle teeth possible.
  • Hearing loss possible.
  • Collagen improperly formed.
Type IV (Dominant)
  • Between Type I and Type III in severity.
  • Bones fracture easily. Most fractures occur before puberty.
  • Shorter than average stature.
  • Sclera are white or near-white (i.e. normal in color).
  • Mild to moderate bone deformity.
  • Tendency toward spinal curvature.
  • Barrel-shaped rib cage.
  • Triangular face.
  • Brittle teeth possible.
  • Hearing loss possible.
  • Collagen improperly formed.

Type V (Dominant)
  • Clinically similar to Type IV in appearance and symptoms of OI.
  • A dense band seen on x-rays adjacent to the growth plate of the long bones.
  • Unusually large calluses (hypertrophic calluses) at the sites of fractures or surgical procedures. (A callus is an area of new bone that is laid down at the fracture site as part of the healing process.)
  • Calcification of the membrane between the radius and ulna (the bones of the forearm). This leads to restriction of forearm rotation.
  • White sclera.
  • Normal teeth.
  • Bone has a “mesh-like” appearance when viewed under the microscope.
  • Dominant inheritance pattern

Type VI (Dominant)
  • Clinically similar to Type IV in appearance and symptoms of OI.
  • The alkaline phosphatase (an enzyme linked to bone formation) activity level is slightly elevated in OI Type VI. This can be determined by a blood test.
  • Bone has a distinctive “fish-scale” appearance when viewed under the microscope.
  • Diagnosed by bone biopsy.
  • Whether this form is inherited in a dominant or recessive manner is unknown, but researchers believe the mode of inheritance is most likely recessive.
  • Eight people with this type of OI have been identified.

Type VII (Recessive)
  • The first described cases resemble Type IV OI in many aspects of appearance and symptoms.
  • In other instances the appearance and symptoms are similar to Type II lethal OI, except infants had white sclera, a small head and a round face.
  • Short stature.
  • Short humerus (arm bone) and short femur (upper leg bone).
  • Coxa vera is common (the acutely angled femur head affects the hip socket).
  • Results from recessive inheritance of a mutation to the CRTAP (cartilage-associated protein) gene. Partial function of CRTAP leads to moderate symptoms while total absence of CRTAP was lethal in all 4 identified cases.

Type VIII (Recessive)
  • Resembles lethal Type II or Type III OI in appearance and symptoms except that infants have white sclera.
  • Severe growth deficiency.
  • Extreme skeletal under mineralization.
  • Caused by a deficiency of P3H1 (Prolyl 3-hydroxylase 1) due to a mutation to the LEPRE1 gene.

Treatment for all types involves preventing symptoms, maintaining individual mobility, and strengthening bone and muscle. This includes exercise and physical therapy programs to strengthen muscles, increase weight-bearing capacity, and reduce the tendency to fracture. Physical therapy in the water (hydrotherapy) has also been proven helpful since moving around in water lessens the chance of fracture.

A procedure in which metal rods are surgically placed in the long bones to prevent fractures is often used to treat individuals with OI. Surgery may prove necessary for individuals with severe malformation of the bones of the spine or basilar impression. Plastic braces are replacing plaster casts as protective devices because they permit greater freedom of movement and can be used in water. Inflatable suits can provide added protection, especially to very young children.

From the OI Foundation:
"There is evidence that OI has affected people since ancient times. It has been recognized in an Egyptian mummy of an infant from about 1000 BC. The mummy is currently in the British Museum in London, England. A Viking leader who lived in the 9th century, Ivar Ragnarsson “Ivar the Boneless,” probably had OI. He is reported to have been a very wise leader and a very fierce warrior who had to be carried into battle on a shield because his legs were so soft. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600’s. The term “osteogenesis imperfecta” was used in medical literature beginning in the 1840’s. Early in the 20th century OI was identified as a condition people were born with rather than an illness that they acquired later. Today, people who have OI are involved in every walk of life."

The infamous banned Double Dare episode (From the Lost Media Wiki):
"There was at least one other episode of Double Dare that was filmed, but never aired. The episode involved a child that had a condition called "brittle bone disease" that made his bones more fragile than the average contestant on the show. He lied about it on the application and made it onto the show.
During the filming of the episode, the predictable happened - the kid broke his arm, while doing one of the obstacles on the obstacle course. Marc said that the kid's bone went right through his skin, and Marc had to leave the set immediately, almost puking. The obstacle course was not redone, as the episode never aired on television."

Care for children who have OI should be customized to meet the needs of each individual child. No two children with OI are exactly alike. The picture of OI varies greatly, not only between different types, but also within groups. Elements of a care plan will include:
  • Management of skeletal and non-skeletal issues
  • Rehabilitation to enhance function and encourage development of maximum bone mass
  • Nutrition counseling for health and weight control
  • Surgical/hospital care that reflects knowledge of OI and respect for bone and tissue fragility
  • Referrals to other specialists, including mental health professionals, as needed
  • Attention to normal childhood disease and immunizations
  • Age appropriate information about reproductive health and sexuality.

Precautions to take when caring for a person with OI

There are certain precautions that should be taken when working with someone with OI. These include:
  • Never pull or push on a limb, or bend it into an awkward position, not even to take an x-ray
  • Use caution when inserting IVs, taking blood pressure, or performing other medical procedures to avoid causing injury
  • Always dose medicines to the size, NOT the age of short statured adults
  • When a fracture is suspected, minimize handling of the affected limb.
  • Respect the opinions, advice, or instructions provided by parents, children, and adults with OI. Based on experience, they give good directions for the safest ways to lift, carry, or reposition. Having dealt with dozens of fractures and medical procedures, even children have a good sense of when a bone is broken before x-rays are taken.
  • Handle babies with extra care.
    • Lift a baby with OI by placing one hand under the buttocks and legs, and the other hand under the shoulders, neck, and head.
    • Do not lift the baby from under the armpits.
    • Do not lift by the ankles to change a diaper- rather, slide a hand under the buttocks.
    • Babies do not need to be kept on a pillow or soft surface. Encourage babies to explore independent movement.
    • Supporting infants in a variety of positions (e.g., side lying, stomach lying) develops muscles that will help with sitting and standing later on.

Interdisciplinary Care

Children benefit from coordinated interdisciplinary care from physicians familiar with OI. A number of medical centers across the United States and Canada have OI clinics and/or research programs, often as part of a genetics or bone dysplasia center. The OI foundation can assist in helping you find a clinic through our “clinic directory”.

In other communities, the parents and primary care physician work together to create a network of health care providers for the child with OI. Clear and timely communication between all health care providers is important.

General Pediatric Care

The general health needs of children with OI are the same as other children. Typical childhood illnesses can be expected, but ear infections may occur more frequently. Children with all types of OI have a predisposition to respiratory infections, and they may be more serious in children with Type III OI. Immunizations are not contra-indicated and are encouraged. Physicians with experience caring for children with OI suggest:
  • Titrate medication to a child’s weight, not age, even with older children and teens
  • Monitor the use of non-steroidal anti-inflammatory (NSAIDS) drugs- some have been linked to retarded bone healing after fracture
  • Minimize the use of drugs that contain steroids because of negative effects on bone metabolism
  • It is beneficial when PCP office personnel are trained in OI-specific safe handling techniques.
Monitoring

When working with children with OI, the following should be monitored:
  • Routine screenings for vision, hearing, and dental care
  • Spine checks for scoliosis and kyphosis beginning at age 2
  • Bone density testing is recommended to help monitor changes over time. A baseline test when a new course of treatment is started is informative along with a test approximately 6-12 months after a change in treatment
  • Echocardiogram as a baseline heart valve screening during later teen years or early young adult
  • Consult with an orthodontist no later than age 7 to assess jaw development, and the presence of malocclusions or cross-bite
  • Perform a baseline quantitative Pulmonary Function Test (PFT) on all children with OI at age 5 or when the child can cooperate, and again at maturity (age 20-25 years). If PFT is normal, repeat every 2 years.

Diet and Nutrition

Children with OI need a balanced diet containing enough water, fiber, calcium, and vitamin D calibrated to their age and size. Here are some important things to keep in mind about diet and nutrition and OI:
  • Nutrition Counseling for parents and children may be beneficial
  • Slow weight gain is seen in infants- this may not be failure to thrive
  • Swallowing difficulties, which are reported in some toddlers, may require referral to an occupational or speech therapist, or a nutritionist who treats feeding disorders
  • Small appetite is seen in children of all ages- inactivity, pain, medications, and depression are potential causes
  • Constipation is seen in children of all ages and with all types of OI (and can even be recurrent). Short stature, inactivity, pelvic deformity, and difficulty with hydration are contributing factors
  • Weight control is important- obesity places a strain on the fragile skeleton and can lead to loss of mobility
  • Hormonal changes related to puberty can contribute to unhealthy weight gain, especially in girls who have OI
Mental Health

Living with OI can present emotional as well as physical challenges for the child, parents, and siblings. Health care providers are encouraged to note signs of depression, substance abuse, and fearfulness, and to make referrals to mental health professionals.

Children with OI may experience low self-esteem and anxiety. Children with the milder forms of OI may struggle to cope with having a hidden disorder that can be misunderstood by their peers. Older children may become discouraged by the repeated need to re-learn mobility skills, receive painful therapies, and miss out on activities with their peers due to fractures and reduce mobility. Even relationships between siblings can even be strained.

Development

OI does not affect a child’s ability to think and learn, but children with OI often demonstrate delays in meeting developmental milestones. These delays can be the result of repeated immobilizations after fractures, misalignment of the long bones and joints, and the general hypotonia and ligamentous laxity common in OI. Interventions can include physical and occupational therapy, braces, use of adaptive equipment and mobility aides. Small-muscle development, especially in hands and fingers, is likewise affected. To the best of our current knowledge, the incidence of autism, hyperactivity, and childhood cancers is believed to be similar to children without OI.

Growth

Mild to significant short stature and a slow growth rate occurs in OI. Hip and back pain due to poor alignment and leg length discrepancies occur in all types of OI and should be evaluated by an orthopedist and/or a gait specialist. Height and weight charts for the child with OI are available.
The Adult health initiative is a multi-year effort sponsored by the OI Foundation. It is a series of research projects, publications, and outreach efforts to OI Adults and their Physicians. The long term goals for the Initiative are to: increase knowledge about the health status, needs, and health priorities of adults with OI; Encourage, and when necessary, self-fund studies specifically designed to improve the health of adults who have OI; and equip adults who have OI and their health care providers with information they need to anticipate problems and when possible, prevent or minimize symptoms that are aggravated by time and age.

The general health needs of adults with OI are the same as in unaffected adults. OI may complicate treatment of various illnesses or injuries due to the fragility of the bones, the blood vessels, and the internal organs. Special health needs may include pulmonary (breathing issues) and a possible increased risk for heart valve problems. Weight management, healthy diet, appropriate exercise, and maintenance of bone mass are the cornerstones of health management for adults.

Some of the issues to keep track of are: routine screenings for vision, dental, and hearing; obtaining a baseline Quantitative Pulmonary Function Test (PFT) to monitor Lung Function; a baseline echo-cardiogram for young adults with blood pressure monitoring; post-menopausal changes to spine, joints, and signs of arthritis; changes in pain level; and potential for non-OI problems.

When discussing medications with your doctor, make sure that you discuss adjusting the dose of medication to your weight and height, rather than age; monitor the use of NSAIDS due to the link to delayed bone healing after fracture; minimize the use of drugs that contain steroids because of the negative effects on bone; and discuss your risk of spontaneous tendon rupture seen in people with a connective tissue disorder when using antibiotics known as fluroquinolones (Cipro, Levaquin).
Gynecologic Concerns of Women with OI
Girls with OI Type I and Type IV can expect to begin menstruating at the same age as, or just slightly later than, girls who do not have OI. However, girls with OI Type III may experience a delay of several years before beginning to menstruate (Reed). This type of delay has been associated with an increased risk for osteoporosis in the general population. Once menstruation starts in girls with OI, their cycles are generally regular although heavy bleeding may occur in girls and women who have a history of easy bruising or bleeding tendencies. There is no evidence to suggest that fertility is influenced by OI. However, miscarriage rates may be higher among women who have OI.

Obstetric Concerns of Women with OI
  • There are a number of areas of concern when women with OI become pregnant. These include the following:
  • Although many women with mild OI experience few adverse effects from pregnancy, they may have loose joints, reduced mobility, increased bone pain, and dental problems during pregnancy.
  • All pregnant women experience changes in their bone density during pregnancy, but there is concern that women with OI do not regain the lost bone density after pregnancy, or do not regain it as quickly as other women.
  • Short stature, spinal curvature, and rib cage deformities can lead to complications when already crowded internal organs must accommodate a growing fetus. Complications can range from breathlessness and discomfort to more serious problems that necessitate early hospitalization or premature delivery. Monitoring of respiratory function may be indicated.
  • Pregnancy is not clearly associated with increased maternal fracture risk. However, carrying a child to term can place additional stress on weakened bones and loose joints. A woman might be more likely to fall when her growing abdomen disrupts her balance. Obstetrical manipulation during delivery may result in fractures.
  • Women with OI have reported several other pregnancy complications. It is not known whether they occur more frequently or severely in women with OI than in other women. These complications include pre-eclampsia (characterized by high blood pressure, protein in the urine, and body swelling); premature delivery; placenta previa (when the placenta covers the cervical opening); premature rupture of membranes; recurrent urinary tract infections; anemia (low red blood cell count); and calcium deficiency.
  • A history of pelvic fractures and/or pelvic deformities may necessitate cesarean delivery.
  • Women with a history of easy bruising, recurrent nosebleeds or bleeding tendencies following previous surgeries may be more susceptible to excessive bleeding after delivery. Blood coagulation and platelet tests may be prescribed prior to the delivery date as a precautionary measure.
  • Potential anesthesia concerns for women with OI include hyperthermia (raised body temperature), or an inability to receive epidural anesthesia due to spinal curvature or compression.
  • A recent Scottish study of back pain in pregnant women who have OI suggests that vertebral crush fractures are common and that caesarian section does not prevent this problem. (McAllion) • After the baby is born, the mother with OI may also experience increased bone pain, susceptibility to fracture, or other connective tissue problems.
The infant may have an unusually soft skull, startle very easily, have bone deformity and have fractures, often of the ribs or long bones,
that are in various stages of healing.

Handling Suggestions
  • All movements should be slow, methodical and gentle.
  • Never push, pull, twist, bend, apply pressure or try to straighten arms or legs.
  • Infants with OI should not be picked up under the axillae or around the rib cage because this can cause rib fractures.
  • The head and trunk should be supported with one hand while the other hand supports the buttocks.
  • Keep fingers spread apart to provide a wider base of support and an even distribution of support pressure.
  • When lifting or turning the baby for feeding, dressing or diapering, apply support to the broadest possible area. One safe and effective way is to slide one hand underneath the child’s buttocks to the back with some support under the head. Place the other hand on the chest and abdomen “sandwiching” the baby between the two hands.
  • When diapering the baby, do not lift the baby by the ankles (as this could result in a fracture). Slide your hand under the buttocks to gently roll the baby onto one side to remove/ replace the diaper.
  • Infants with fractures may be immobilized with a cast or splint to reduce motion and provide stabilization. Such infants must not be placed prone on their stomachs because suffocation can occur.
  • Care should be taken when changing dressings and bedding to protect the infant’s arms, wrists and fingers.
  • When dressing the infant, bring garments over the limb; do not pull the limb through the sleeve or pants leg. Pulling, twisting or getting caught in clothing can cause fractures.
  • It is important that babies with OI receive affection and are held and touched by parents and other caregivers.
Feeding
  • Some babies display a weak sucking reflex and may require small, frequent feedings.
  • The combination of small stature, feeding problems, and slow growth may be mistaken for failure to thrive.
  • Rapid respirations can predispose to aspiration.
  • When feeding the infant, the mother should be especially careful to avoid having the baby positioned with an arm behind the back or a leg pressed against the mother’s body in such a way as to put pressure on it at an abnormal angle.
  • Burping should be done very gently to reduce the chance of fractures, especially of the ribs.
  • Soft taps, possibly with padding over the hand, are recommended.
  • Gently rubbing the baby’s back while taking gentle bouncing steps may also be beneficial.
Bedding
  • A standard crib mattress is most suitable for the baby with OI. Waterbeds and soft bedding should never be used.
Positioning
  • Infants who spend an extended period of time in the nursery should be repositioned regularly.
  • The unusually soft skull can be flattened from prolonged time in any one position.
  • Occasionally a gel pad is necessary to protect the back of the skull.
  • Rolled blankets or sheets or soft foam wedges can support side lying.
  • Rib fractures, a deformed chest, etc., will preclude placing the baby in the prone position (on the stomach).
Some other concerns with OI:
  • OI bone is fragile and can easily fracture proximal to a cast of “normal” weight. Fracture immobilization should be with the lightest materials possible.
  • Falls and car accidents may cause more extensive injury to the person with OI than the same amount of force would inflict on others.
General Guidelines for Emergency Treatment
  • People with OI often have ongoing medical and surgical needs, and have substantial experience with fracture management and orthopedic procedures. Respect the opinions, wishes, advice, or instructions of adults with OI, parents of children with OI, and older children with OI.
  • Because bones are brittle, the severity of a fracture is not always directly related to the level of trauma. There may be no external sign of injury. Fractures are also unpredictable; a person with OI might have a serious fall or accidents with no fractures but then go on to fracture during normal daily activities.
  • Allow parents to stay with their child at all times. This not only comforts the child, but the parent may be able to help with transferring the child or ensuring that safety precautions are used to prevent additional injury.
Safety Precautions
  • Be gentle and cautious during transfers; avoid sudden pulling of limbs, neck, or spine. Never twist, bend, apply pressure to, or try to straighten limbs. Some limbs cannot be straightened because of deformity. Parents, family members and/or older patients can provide guidance here.
  • People with OI often bruise easily; therefore, IVs and blood draws should be done by the most experienced person available.
  • Guard against placing a tourniquet or inflating a blood pressure cuff too tightly, which can lead to bruising or fractures when OI is severe. Automatic blood pressure cuffs may put too much pressure on the arm bone; set the cuff at the lowest possible inflation, and if possible, establish a baseline by first taking manual blood pressure measurements.
  • Ask neonatal or pediatric nursing staff to help with medical procedures involving children and adults with OI who are very small.
  • Some people with OI have a slightly increased risk of high urine calcium levels. Some people with OI have hyperhydrosis and may need significant fluid replacement. Otherwise, metabolic and blood chemistries should be unremarkable. Treatment should be per usual, with doses of medicines titrated to body weight, not age, even for adults with OI.
  • Normal-sized medical equipment may not fit people with OI who are smaller than average. Pediatric-sized equipment may be appropriate for some adults with OI. However, head size is often within normal ranges for a person’s age, even if his or her body is small. Equipment to go on the head or face (such as an oxygen mask) should usually be determined by age.
  • Stretchers should be padded and not have holes that a small person could slip through.
  • Use caution when tightening straps on a stretcher, applying splints, using restraints, etc., to avoid causing a fracture.
  • Make sure that blankets and sheets are not too tight, and be careful when removing them to avoid getting fingers, toes, etc., caught in the folds, which could cause a fracture.
  • Some people with OI develop hyperthermia under general anesthesia, and some are sensitive to inhaled anesthetics.
  • Some people with OI have an allergy to latex.
Pain Management
  • Adequate pain relief is paramount, even prior to x-ray.
  • If possible, minimize handling before pain relief is administered. Babies and small children may fall asleep when held, only to awaken screaming in pain when moved slightly. Do not hesitate to use splints and wraps to reduce motion of a painful limb and to minimize spasm.
  • Consider NPO until the need for surgery or surgical application of a cast is assessed by an orthopedist.
X-Rays
  • The decision to obtain an x-ray should be made jointly with the family or older OI patient.
  • Often, the x-ray is negative until two or more weeks after the injury. Regardless of x-ray findings, symptom control using a splint, braces, medication, or sling should be provided.
  • Minimize handling but ensure proper views of affected bones (i.e., it is better to properly position once than to have to repeat x-rays). “Frog leg” views make it easy to see both tibias and femurs.
  • Allow a parent or other family member to assist in transferring and positioning a child. If the patient is an adult, listen to his or her advice about transferring, and allow a friend or family member to assist if the patient approves.
Determining Whether a Fracture Has Occurred
  • People with OI frequently have microfractures that are not visible on x-ray immediately following the injury. Due to low bone density, decreased soft tissue reaction, and bone deformity in some people with OI, nondisplaced fractures may not be discernible on early x-rays. Follow-up x-rays one to two weeks later may reveal the fracture because a callus has formed.
  • If a fracture is suspected due to pain, swelling, the patient’s inability to use the limb (especially in a child), and the patient’s or family’s insistence that it really is broken, treat the limb as if it is broken until follow-up x-rays are taken. If it is fractured, the patient will be much more comfortable with the limb immobilized. If it is not fractured, a few extra days of immobilization should not cause permanent damage.
  • Soft tissue injury around a fracture is less likely in a person with OI. The bone usually cracks before the ligaments and tendons tear.

Immobilization of Fractures
  • If an orthopedist is not immediately available, use appropriate splinting techniques to immobilize the affected limb until definitive orthopedic treatment. Bone deformities require added consideration when immobilizing a fracture. If the patient has an orthotic, it can often serve as an effective splint.
  • Prolonged (more than a few hours) of skeletal traction is usually not effective and delays definitive surgery.
  • Orthopedics should be called early in the process.
  • If there is internal fixation (i.e., a rod), splinting or casting may not be necessary, but adequate pain relief is still important.
  • Casting should be done by the most experienced person available.

Is it OI or Child Abuse?

When health care professionals, child welfare workers, and law enforcement officials see an unexplained fracture in a child who appears “normal” and whose bones appear otherwise normal on x-ray, they often suspect child abuse. Tragically, however, OI is often mistaken for child abuse.

When a child has osteogenesis imperfecta:
  • Fractures may occur during ordinary activities, such as changing a diaper or burping the baby, or when an infant tries to crawl or pull to a stand. There may be no obvious indication that a fracture has occurred, other than the child crying or refusing to put weight on a limb.
  • All types of fractures may occur, including rib fractures and spiral fractures, with little or no apparent trauma.
  • The child may bruise easily, again with little or no apparent cause.
  • There may be no history of OI in the family, as some cases of OI occur due to a spontaneous genetic mutation. In other cases, a parent’s case of mild OI may have gone undiagnosed.
  • X-rays may reveal old fractures in various stages of healing that went undetected.
  • The OI child may not exhibit the hallmark clinical features of OI, such as blue sclera, bone deformity, or brittle teeth.
  • Infants and children with mild or moderate OI may have bones that appear normal on x-rays.
False accusations of child abuse may occur in families with children who have milder forms of OI and/or in whom OI has not previously been diagnosed. Types of fractures that are typically observed in both child abuse and OI include:
  • fractures in multiple stages of healing
  • rib fractures
  • fractures for which there is no adequate explanation of trauma
When the fracture seems incompatible with the reported cause of the injury, child abuse is often suspected. And, unfortunately, when false accusations of child abuse occur, families become victimized.

The following practical advice, together with competent legal advice from a family law attorney, is intended to help parents who have been accused of child abuse.
  1. Each state has its own policy for dealing with child abuse cases. The services of a family law attorney are usually needed. Attorney referral services are generally offered by each state’s Bar Association. If you are not satisfied with the services that your attorney is providing, don’t be afraid to find another attorney to handle your case.
  2. Physicians and social services case workers are required by law to report suspected child abuse. Everyone involved is concerned about what is best for the child.
  3. Seek the best medical diagnosis possible. It is of utmost importance that the health care professional (including, but not limited to, an orthopedist familiar with OI) conducting the evaluation have considerable experience in both diagnosing and treating OI.
  4. A consultation with a geneticist familiar with OI may reveal a family history of mild OI.
  5. If the child is taken from the home, parents can request placement with a grandparent or other relative.
  6. When the problem is resolved, insist that the charges be taken off all records, including computerized records.

1624496384226.png
1624496450695.png
1624496468302.png

1624496539726.png
1624496596778.png
1624496655717.png


Resources:
Fun Sized Style

Attached is example of poster to be put up above the bed of a hospitalized person with OI and an ER/A&E info pamphplet. Also included are free publications given out to help PT and other professionals.
 

Attachments

  • Poster_Handle_with_Care.Adults.pdf
    276.9 KB · Views: 9
  • Emergency-Room-Care-Pocket-Guide.pdf
    382.1 KB · Views: 8
  • PT_guide_final.pdf
    4.2 MB · Views: 4
  • Caring_-_Infants_english.pdf
    479 KB · Views: 7
  • Medical_Guide_revised_2013.pdf
    89.2 KB · Views: 3

Crimewatcher 44

Twatwaffle Voyeur
kiwifarms.net
Great post! So few people are aware of OI, I'm glad to see some factual information being shared. I'd like to add a few points.

  1. OI doesn't affect intelligence.
  2. Osteogenesis Imperfecta Type 2 is almost always fatal. The bones are so soft they feel non-existent.
  3. The blue Sclera in individuals with type 3 doesn't always fade.
  4. Some individuals may be helped by Bisphosphonate medications, usually pamidronate.
 

GenociderSyo

Syo
kiwifarms.net
Wanted to show an example of a disorder that has been heavily genetically looked at to give an idea of just how specific disorders can be:

Epidermolysis Bullosa
(1 out of every 50,000 births has one type of EB)

This disorder is a genetic skin disorder characterized clinically by blister formation from trauma (trauma being as small as a touch). There is a spectrum of severity, and within each type, one may be either mildly or severely affected. Friction causes blister formation. Blisters can form anywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve the external surface of the eye, as well as the respiratory, gastrointestinal and genitourinary tracts. This can cause disfiguring scars and disabling musculoskeletal deformities to occur. There are a few versions that are neonatal lethal because they involve a full thickness complete absense of any skin.

Children with this disorder have multiple blistesr that must be taken care of invloving lancing, etc. They must to keep infection down be bathed in water with different bleach concentrations.

EB Simplex
1625703841013.png

This is the most common type of EB consisting of 70% of all cases of EB. The missing protein that allows the skin to heal effects the upper layer of the skin ( the epidermis) only. This type is inherited in an autosomal dominant manner. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome.
  • Localized EBS (Previously known as Weber-Cockayne) - Noted Clinical Symptoms
    • Skin blistering begins at birth or in early infancy. The intra-epidermal blistering is superficial, leading to erosions and crusts, and is enhanced by heat, humidity and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Blisters may heal with hyperpigmentation.
    • Milia (tiny white bumps that look like whiteheads) may occur in the first weeks of life.
    • Plantar keratoderma (thickening of skin on hands and feet) occurs and develops gradually, is painful, may reduce mobility, and may strongly impair quality of life.
    • EB naevi (large lesions that may become cancerous) are common.
    • Nails may be thick and dystrophic.
  • Intermediate EBS (Previously known as EBS generalized-severe or EBS Köbner)- Noted Clinical Symptoms
    • Skin blistering begins at birth. The intra-epidermal blistering is superficial, leading to erosions and crusts, and is enhanced by heat, humidity and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Blisters may heal with hyperpigmentation.
    • Blistering is generalized, but less severe compared to Severe EBS.
    • Milia may occur in the first weeks of life.
    • Plantar keratoderma occurs and develops gradually, is painful, may reduce mobility, and may strongly impair quality of life.
    • EB naevi are common.
    • Nails may be thick and dystrophic.
  • Severe EBS (Previously known as EBS generalized severe or EBS Dowling-Meara) - Noted Clinical Symptoms
    • Skin blistering begins at birth. The intra-epidermal blistering is superficial, leading to erosions and crusts, and is enhanced by heat, humidity and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Blisters may heal with hyperpigmentation.
    • Milia may occur in the first weeks of life.
    • The oral mucosa is usually involved in infants.
    • Skin fragility is very prominent at birth, and congenital ulcerated areas on hands and feet as well as nail involvement are common. In the neonatal period, large tense blisters can occur after minimal mechanical trauma or spontaneously. The condition may be life threatening in the first year of life.
    • Plantar keratoderma occurs and develops gradually, is painful, may reduce mobility, and may strongly impair quality of life. Confluent palmoplantar keratoderma is mostly seen in severe EBS.
    • EB naevi are common.
    • Nails may be thick and dystrophic.
    • Gastro-oesophageal reflux may occur in infancy, often needing aggressive medical treatment.
    • Growth retardation is common in infants.
  • Rare EBS Subtypes
    • EBS with Mottled Pigmentation - Noted Clinical Symptoms
      • Skin blistering starts at birth and is generalized, of intermediate severity.
      • Mottled or reticulate pigmentation develops gradually
      • Focal keratoses of the palms and soles, and dystrophic, thickened nails occur over time.
      • Autosomal dominant inheritance.
    • EBS, Migratory Circinate Erythema - Noted Clinical Symptoms
      • Multiple vesicles are present from birth onwards and acquire over time a typical circinate migratory pattern on an erythematous background; post-inflammatory hyperpigmentation develops gradually and may have a mottled patter
      • Nails may be dystrophic.
      • Autosomal dominant inheritance.
    • EBS, Intermediate with Cardiomyopathy - Noted Clinical Symptoms
      • Extensive skin defects on the extremities are present at birth and heal with hypo- and hyperpigmentation and skin atrophy, initially resembling burn-like scars. Skin blistering diminishes in adulthood, but fragility persists, with erosions occurring after minimal mechanical trauma.
      • Diffuse or focal plantar keratoderma.
      • Nail thickening and onychogryphosis (discolored, elongated nails).
      • Diffuse alopecia (hair loss) has been reported in some adult patients.
      • Dilated cardiomyopathy has been reported in young adulthood. Laboratory screening (pro-BNP, creatine kinase, creatine kinase MB) should be started as early as the age of 2 years, with yearly follow-ups. If pathologic values are found, cardiologic examination, ECG and cardiac ultrasound should be performed.
      • Autosomal dominant inheritance.
      • High rate (50%) of de novo (new or novel) mutations.
    • Recessive EBS, Intermediate or Severe with Keratin 14 or 5 Pathogenic Variants - Noted Clincal Symptoms
      • Skin blistering starts at birth and is generalized and severe in most cases. No improvement of cutaneous fragility is expected with age. Healing of lesions leads to post-inflammatory hyperpigmentation.
      • Absence of keratin 5 leads to widespread blisters and erosions and early lethality.
      • Autosomal recessive inheritance.
    • EBS, Localized or Intermediate with BP230 Deficiency - Noted Clinical Symptoms
      • Skin blistering starts at birth or in childhood and is mostly localized to acral (hands, feet, the distal features) extremities.
      • Plantar keratoderma.
      • Nail dystrophy.
      • Autosomal recessive inheritance.
    • EBS, Localized or Intermediate with Exophilin 5 Deficiency - Noted Clinical Symptoms
      • Generalized skin blistering starts at birth or in infancy. Blistering tendency may diminish with age, while crusts and scabs reflect the fragility of the skin.
      • Mild mottled pigmentary changes may develop.
      • Autosomal recessive inheritance.
    • EBS, Intermediate with PLEC Pathogenic Variants - Noted Clincal Symptoms
      • Skin blistering starts at birth, is mainly acral but may be widespread. The autosomal dominant subtype is characterized by a mild course, mainly acral erosions and postlesional violaceous and hypopigmented macules. Only three cases with the autosomal recessive subtype have been published yet, all of intermediate severity.
      • Plantar keratoderma.
      • Dystrophic thickened nails, sometimes onychogryphosis.
      • No muscular dystrophy.
      • Autosomal dominant or recessive inheritance.
    • EBS, Intermediate with Muscular Dystrophy - Noted Clinical Symptoms
      • Generalized skin blistering starts at birth and is of intermediate severity. Blistering tendency diminishes with age.
      • Focal plantar keratoderma.
      • Nail dystrophy and loss.
      • Mucosal involvement including oral, ocular and urethral mucosae is common.
      • Dental anomalies.
      • Muscular dystrophy starts at a variable age, ranging from infancy to adulthood.
      • Cardiomyopathy may be associated.
      • Granulation tissue and stenosis (narrowing) of the upper respiratory tract and hoarseness may occur.
      • Muscular dystrophy is usually life-limiting in childhood or early adulthood.
      • Pyloric atresia (blockage between stomach and small intestine or actual seperation of the two) may be associated in rare cases.
      • Autosomal recessive inheritance.
    • EBS with Pyloric Atresia - Noted Clinical Symptoms
      • Widespread full-thickness congenital absence of skin.
      • Pyloric atresia.
      • Involvement of the oral mucosa.
      • Anemia and growth retardation.
      • Neonatal lethal course.
      • Autosomal recessive inheritance.
    • EBS, Localized with Nephropathy (Kidney Failure) with CD151 Deficiency - Noted Clinical Symptoms
      • Only a few individuals with this subtype have been reported so far in the literature.
      • Skin blistering starts at birth and is widespread primarily in the pretibial area but also scattered on other parts of the body, particularly those exposed to trauma.
      • Facial freckling, poikiloderma and atrophy of the skin, and acrogeria of the backs of the hands on the sun-exposed areas reported in one case.
      • Erosions of the oral mucous membranes.
      • Nail dystrophy.
      • Early-onset alopecia.
      • Nasolacrimal duct stenosis (Blocked tear ducts).
      • Oesophageal (food-pipe in layman's terms) webbing and strictures.
      • Nephropathy manifesting with proteinuria. The scarcity of reported cases precludes firm screening recommendations, but annual urinalysis and urea and electrolytes should probably be undertaken following diagnosis.
      • Autosomal recessive inheritance.

EB Junctional
1625713597934.png

This form of AB is an autosomal recessive disorder characterized by moderate to severe skin blistering due to issues affecting the basement membrane, which is the structure that keeps the epidermis (outer) and dermis layers together, meaning the skin breaks apart easily causing blistering. The severity varies considerably with the most severe type leading to death between 6–24 months of life. This is the least common of the three main forms of EB.
  • Intermediate JEB (Previously known as JEB generalized intermediate or non-Herlitz JEB) - Noted Clinical Symptoms
    • Blistering begins at birth or shortly afterwards. Blisters tend to rupture leaving erosions, which can become extensive. Areas of ulcerated skin may be present at birth, most commonly on the lower limbs or dorsa of the feet and ankles. Blisters and ulcers may heal with atrophic scarring and variable hypo- or hyperpigmentation.
    • Blistering is generalized but less severe in intermediate JEB, usually without the tendency for developing chronic granulation tissue although this can occur in chronic wounds.
    • Development of cutaneous squamous cell carcinoma (SCC) can occur in adulthood.
    • EB naevi may occur.
    • Involvement of the oral mucosa occurs.
    • Ocular involvement with corneal blistering and erosions. Pannus formation, scarring and symblepharon (the conunctivi in the eye become fused) may follow episodes of blistering.
    • Involvement of the genitourinary tract can occur but most commonly presents in older individuals with urethral stricture disease.
    • Nails are usually lost or dystrophic with atrophy, thickening or ridging of the nail plate.
    • Scarring or non-scarring alopecia and diffuse hair loss can occur.
    • Dental enamel defects occur.
  • Severe JEB (Previously known as JEB generalized severe or Herlitz JEB)- Noted Clinical Symptoms
    • Blistering begins at birth or shortly afterwards. Blisters tend to rupture leaving erosions, which can become extensive. Areas of ulcerated skin may be present at birth, most commonly on the lower limbs or dorsa of the feet and ankles. Blisters and ulcers may heal with atrophic scarring and variable hypo- or hyperpigmentation.
    • Usually results in death in the first 24 months due to failure to thrive, airway involvement or sepsis.
    • Infants usually develop profound failure to thrive despite adequate nutritional intake.
    • Blisters may be few the first couple weeks of life and tend to occur on the buttocks, elbows, and around the nails; however, despite an initially mild clinical picture, JEB severe must be suspected. From a few weeks to months of age, wounds may become chronic with a bed of friable granulation tissue. This commonly affects the face, ears and distal digits. Persistent large gluteal (butt) wounds are common.
    • Involvement of the oral mucosa occurs. Typically associated with laryngeal mucosal involvement with blistering, erosions, granulation tissue and scarring giving rise to hoarseness, stridor and potentially life-threatening airway obstruction.
    • Ocular involvement with corneal blistering and erosions. Pannus formation, scarring and symblepharon may follow episodes of blistering.
    • Involvement of the genitourinary tract can occur.
    • Loss of all nails in the first few months of life with the development of friable granulation tissue and soft tissue swelling of the distal digits.
    • Scarring or non-scarring alopecia and diffuse hair loss can occur.
    • Anaemia is common.
    • Dental enamel defects occur.
  • Rare JEB Subtypes
    • JEB with Pyloric Atresia - Noted Clinical Symptoms
      • Full thickness skin loss over extensive areas of the head, trunk and limbs at birth.
      • Subsequent severe skin fragility.
      • Skin loss can cause deformity of structures such as the ears and nose. Severe phenotypes can present with rudimentary ears.
      • Nail dystrophy and loss.
      • Pyloric atresia is usually evident within the first days-week of life.
      • May have atresia at other gastrointestinal sites e.g. duodenal or anal.
      • Usually lethal within the first few weeks of life despite surgical correction of pyloric atresia.
      • Milder, non-lethal forms have less severe skin and nail involvement but with frequent genitourinary tract involvement.
    • JEB Localized - Noted Clinical Symptoms
      • Limited cutaneous fragility and blistering, often only acral
      • Variable nail dystrophy and mucosal involvement.
      • Variable dental enamel defects.
      • Normal hair.
      • Autosomal recessive inheritance.
    • JEB Inversa - Noted Clinical Symptoms
      • Onset of blistering from birth in flexural sites (joints and folds).
      • Atrophic scarring.
      • Dental enamel abnormalities.
      • Variable nail loss.
    • JEB Late Onset - Noted Clinical Symptoms
      • Onset of skin fragility in childhood often starting acrally.
      • Progressive fragility with age.
      • Healing with skin atrophy and loss of dermatoglyphs (fingerprints, etc.).
      • Scarring leading to flexion contractures of the fingers and reduction of mouth opening may occur with age.
      • Variable dental enamel and nail involvement.
      • Autosomal recessive inheritance.
    • JEB-laryngo-onycho-cutaneous (LOC) syndrome (Also known as Shabbir Syndrome) - Noted Clinical Symptoms
      • Onset of skin fragility from birth with blistered areas leaving erosions and granulation tissue (much more than JEB severe).
      • Predilection (preference) for the face and neck.
      • Nail dystrophy and loss with granulation tissue of the nail beds.
      • Conjunctival and eyelid granulation tissue leading to symblepharon, scarring and impaired vision.
      • Laryngeal granulation tissue leading to respiratory obstruction which can be lethal.
      • Profound Anaemia is a major feature due to bleeding from over granulating wounds.
      • Autosomal recessive inheritance.
      • Most cases in Punjabi Muslim individuals with a homozygous founder single nucleotide insertion mutation in exon 39 of LAMA3 which is specific to the LAMA3A isoform.
    • JEB with interstitial lung disease and nephrotic syndrome (Also Known as ILNEB) - Noted Clinical Symptoms
      • Variable cutaneous features with absence or presence of skin fragility from infancy.
      • Nails may be dystrophic and hair may be sparse.
      • Interstitial lung disease and nephrotic syndrome predominate the phenotype, and can be diagnosed soon after birth.
      • Death in infancy or early childhood is the norm.

EB Dystrophic
1625756574611.png

This form of EB is characterized by a plane of skin cleavage in the lowest section of the skin. This corresponds to the level of the anchoring fibrils, reflecting the underlying molecular pathology in the gene coding for the main component of these structures, type VII collagen. This may be inherited as a dominant or recessive trait; generally, the recessive form is more severe.
  • Localized DDEB - Noted Clinical Symptoms
    • Onset of skin fragility is usually from birth or early childhood and is limited in anatomical extent. This may be predominantly acral in distribution or just affect the nails with progressive dystrophy and loss, mainly of the toenails. Some individuals have a predominantly pretibial distribution of blistering and scarring; in this form symptoms may not develop until later childhood or adulthood.
    • May present solely with loss or dystrophy of the nails, most commonly the toenails.
    • EB naevi may occur.
    • The oral mucosa may be involved with blistering, erosions and scarring.
    • Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
    • Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.
  • Intermediate DDEB (Previously known as Generalized DDEB) - Noted Clinical Symptoms
    • Manifest with more generalized skin fragility, scarring and milia from birth or early childhood, with a predilection for bony prominences including the elbows, knees, ankles and dorsa of the hands and feet.
    • The risk of developing SCC (cutaneous squamous cell carcinoma) is also increased in intermediate DDEB, RDEB and, to a lesser extent, localized DDEB, but is less common than in severe RDEB and occurs later in adulthood.
    • EB naevi may occur.
    • The oral mucosa may be involved with blistering, erosions and scarring.
    • Oesophageal blistering and scarring are common in severe and intermediate forms of DEB. Left untreated, progressive strictures can significantly limit oral nutritional intake.
    • Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
    • Involvement of the conjunctiva and cornea is common, leading to corneal erosions, scarring, pannus, symblepharon formation and reduced visual acuity.
    • Nail dystrophy and loss secondary to trauma are common.
    • Nutritional impairment may occur; it results from reduced intake due to factors such as microstomia, dental caries and oesophageal stricture disease, in combination with increased metabolic demands due to chronic wounds, infection and inflammation.
    • Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.
  • Intermediate RDEB (Previously called RDEB generalized intermediate or non-Hallopeau-Siemens RDEB)- Noted Clinical Symptoms
    • Manifest with more generalized skin fragility, scarring and milia from birth or early childhood, with a predilection for bony prominences including the elbows, knees, ankles and dorsa of the hands and feet.
    • Mild flexion contractures or a striate-pattern of keratoderma of the fingers and limited digital fusion in the proximal digital web spaces may occur.
    • The risk of developing SCC is also increased in intermediate DDEB, RDEB and, to a lesser extent, localized DDEB, but is less common than in severe RDEB and occurs later in adulthood.
    • EB naevi may occur.
    • The oral mucosa may be involved with blistering, erosions and scarring.
    • Oesophageal blistering and scarring are common in severe and intermediate forms of DEB. Left untreated, progressive strictures can significantly limit oral nutritional intake.
    • Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
    • Involvement of the conjunctiva and cornea is common, leading to corneal erosions, scarring, pannus, symblepharon formation and reduced visual acuity.
    • Nail dystrophy and loss secondary to trauma are common.
    • Nutritional impairment may occur; it results from reduced intake due to factors such as microstomia, dental caries and oesophageal stricture disease, in combination with increased metabolic demands due to chronic wounds, infection and inflammation.
    • Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.
  • Severe RDEB (Previously known as RDEB generalized severe or Hallopeau-Siemens RDEB)- Noted Clinical Symptoms
    • Skin blistering is widespread and manifests from birth with significant fragility from minor skin trauma. From infancy, blistering is more marked over bony prominences and causes extensive scarring which can lead to flexion contractures of the large joints.
    • Progressive pseudosyndactyly (digital fusion), flexion contractures and distal resorption of the digits lead to mitten deformities of the hands and feet.
    • Chronic wounds are frequent at sites of repeated blistering.
    • Congenital skin ulceration is a common presenting feature in neonates.
    • The development of aggressive cutaneous SCC is very common and a frequent cause of death, increasing in incidence from the teen years onwards, arising in areas of repeated trauma, wounds and scarring.
    • EB naevi may occur.
    • The oral mucosa may be involved in all forms of DEB with blistering, erosions and scarring but changes are most extensive and marked in severe RDEB.
    • Progressive scarring leads to microstomia (small oral opening and mouth) and ankyloglossia (tongue tie) , which can result in dental overcrowding and malalignment, and the development of secondary caries.
    • Oesophageal blistering and scarring are common in severe and intermediate forms of DEB. Left untreated, progressive strictures can significantly limit oral nutritional intake.
    • Recurrent blistering and fissuring around the anal margin are common in all forms of DEB.
    • Involvement of the conjunctiva and cornea is common, leading to corneal erosions, scarring, pannus, symblepharon formation and reduced visual acuity.
    • Urethral strictures may occur.
    • Nail dystrophy and loss secondary to trauma are common. Nails are usually lost progressively during the first several years of life.
    • Scarring alopecia and crusting are common with increasing age.
    • Nutritional impairment is common; it results from reduced intake due to factors such as microstomia, dental caries and oesophageal stricture disease, in combination with increased metabolic demands due to chronic wounds, infection and inflammation.
    • Constipation is common due to pain on defection resulting from anal fissuring and blistering, exacerbated by poor intake of fibre-rich foods when intake is compromised.
    • A mixed picture of Anaemia due to iron deficiency and inflammation is common.
    • Osteopenia, osteoporosis and vertebral fractures are common and may be due to reduced mobility, chronic inflammation, vitamin D and calcium deficiency, and pubertal delay.
    • Renal impairment and failure may occur as a result of acute kidney injury, post-streptococcal glomerulonephritis, renal amyloid or IgA nephropathy.
    • Cardiomyopathy may rarely arise.
  • Rare DEB Subtypes
    • DDEB, pruriginosa and RDEB, pruriginosa - Noted Clinical Symptoms
      • Prurigo presents like eczema.
      • Usually presents initially as localized or intermediate DDEB or RDEB in childhood and early adulthood.
      • Characterized by intensely pruritic (itchy), excoriated violaceous papules or linear plaques and scars particularly on the lower legs, thighs and arms which can become more progressive from adolescence through adulthood.
      • Nail dystrophy and milia are common.
      • May co-exist with non-pruriginosa DEB within families.
      • Autosomal dominant or autosomal recessive inheritance.
    • DDEB, self-improving and RDEB, self-improving (Bullous Dermolysis of the Newborn)- Noted Clinical Symptoms
      • Skin blistering presents at or shortly after birth, usually on the extremities.
      • Aplasia cutis (absense of skin) of the lower limbs may be present.
      • Scarring and milia occur at sites of blistering.
      • Skin fragility improves spontaneously and may resolve completely over the first year or two of life although nail dystrophy, particularly of the toenails, may persist throughout life.
      • Autosomal dominant or autosomal recessive.
    • RDEB, Inversa - Noted Clinical Symptoms
      • In the neonatal period and childhood skin blistering is usually generalized and of intermediate severity.
      • From adolescence to early adulthood, a predilection for flexural sites develops, specifically in the axillae, groins, perianal area and natal cleft. In women, there may be marked vulvovaginal and inframammary skin blistering.
      • Mucosal disease with blistering and scarring in the mouth and oesophagus is characteristic.
      • Involvement of the external auditory canal may lead to narrowing or complete occlusion.
      • Nail involvement is common.
      • Autosomal recessive inheritance.
    • RDEB, Localized - Noted Clinical Symptoms
      • Skin fragility usually presents at or shortly after birth but may rarely be of late onset in adulthood.
      • Blistering is limited in extent; it may affect predominantly the hands and feet, but in others may be restricted to the pretibial area.
      • Nail dystrophy and loss are common.
      • Oral and esophageal mucosal involvement are usually mild or absent.
      • Autosomal recessive inheritance.
    • Dominant and recessive compound heterozygous DEB - Noted Clinical Symptoms
      • Severe skin and mucosal fragility presenting from birth indistinguishable from severe RDEB.
      • May have a family history of DDEB in family members.

Kinder
1625771281702.png

This is a rare type of EB with about 250 affected individuals reported worldwide since the first description in 1954. It is more common in isolated or consanguineous populations.
  • Skin blistering begins at birth and is generalized with predilection for the extremities. The tendency to blistering decreases with age.
  • Skin atrophy and poikiloderma (discolored and broken down) start on the dorsal aspects of the hands and on the neck during childhood and extend to the entire integument. Diffuse palmoplantar keratoderma and loss of dermatoglyphs.
  • Photosensitivity is of variable severity.
  • SCC on extremities, lips or oral cavity develop in young adulthood, have a severe course and cause premature death related to the disease.
  • Gingivitis with tooth loss, gingival hyperplasia, oesophageal strictures and colitis in a few cases.
  • Urogenital strictures.
  • Ectropion (lower eyelids drop and turn outwards), corneal erosions.
  • Nail dystrophy.
EB Acquisita (EBA)
  • Rarest Form of EB
  • Only form of EB not caused by gene mutations
  • Autoimmune disease whereby the body starts to attack its own healthy body tissue.
Any trauma, no matter how minimal it may seem, is likely to cause the skin of an EB child or adult to tear or blister. The following are recommended ways to avoid or minimize this problem:
  • Reducing friction: Extreme care should be employed in handling the skin of any patient with EB.
  • Non-adhesive bandages and dressings: Adhesive or semi-adhesive dressings, bandages, Band-aids, or tape should not be used on the surface of the skin. Instead, wounds should be covered with an appropriate non-adhesive dressing and then further wrapped loosely with rolled gauze. This can be secured by using a tubular dressing retainer.
  • Keeping the skin cool: Nothing hot should ever be applied to the skin of a patient with EB. In particular, bath water should be no warmer than body temperature. Patients should avoid prolonged exposure to ambient heat and humidity. If possible, air conditioned environments should be sought whenever possible.
  • Managing blisters: Because blisters in EB are not self-limiting, and can fill with fluid and grow quite large, they need to be drained.
  • Clothing: In younger children, diapers may require additional padding at the legs and waist. Whenever possible, loose-fitting garments should be worn. If blisters develop from the seams of clothing, garments may be worn inside-out and tags, cuffs and necklines may be removed. Loosely-fitted, padded shoes are generally better tolerated.
  • Nutritional deficiencies: Many children with EB become anemic due to a chronic loss of blood through wounds, poor nutritional intake, poor absorption of iron and bone marrow suppression from chronic inflammation. It is important to work with a nutritionist experienced in the care of special needs patients. Treatment for iron deficiency anemia is often necessary. Other patients have selenium and carnitine or vitamin D deficiencies which may predispose them to cardiomyopathy and osteoporosis. Many patients develop failure to thrive and require feeding gastrostomies.
  • Monitoring for cancer: Squamous cell carcinoma is the leading cause of death in EB usually occurring after the 2nd decade of life. Patients with RDEB and JEB are at increased risk of developing skin cancers during their lifetimes. It is very important that all EB patients have at least yearly examination of all skin areas.

There is a clinical trial being done to use bone marrow transplants to help the most debiliating and extreme form of EB a documentary on this can be found here:


1625775414527.png
1625777174861.png
1625777207922.png
1625777266396.png
1625777303148.png
1625777510770.png

1625777544973.png
1625777558497.png
1625777725913.png
1625777877454.png
1625777891901.png


I really reccomend the documentary about Johnny Kennedy the dude has a very realistic view of his impending death and a good attitude towards his life.

Resources:
https://www.debra.org
https://www.debra.org.uk
https://www.ebmrf.org/
EB Partnership Youtube
Debra UK Youtube
 
Last edited:

Frank D'arbo

mods are gay
True & Honest Fan
kiwifarms.net
Fatal Familial Insomnia is probably the only other condition that terrifies me as much as Fibrodysplasia Ossificans Progressiva. It's a prion disease that causes brain degeneration and like other prion diseases our understanding of its causes is minimal (other than there is a genetic factor, but not everyone with the gene gets it - something methylates the gene and we have no idea what) and there is no cure, and barely any treatment - some animal trials suggest amphetamines might slow it down a bit. That's all. Fortunately the mutation is vanishingly rare (only 40 families worldwide are believed to carry it) and if you don't have that gene you won't get this disease. Thank fuck.

In short: you stay awake until you go insane and die. The part of your brain that governs sleep has turned into useless sponge, so you 100% are physiologically incapable of sleep. On average, people who die from this will not have slept, at all, for nine months. They will have slept very badly for about 9 months before that as well. By the end, most people are in a permanent mute, catatonic state after months of 24/7 panic and madness. Whilst on average it takes 18 months to kill you after diagnosis, some people survive for six years.

Medically-induced comas don't work. Whilst they will knock you unconscious, the brain is not asleep and does not perform the regenerative functions that sleep provides, and they will be just as insane on being roused - and probably dreaming equally awful things as they would when awake.

There are two diseases that if I were diagnosed with them would cause me to suck-start a shotgun while I still could - FOP and this. Whilst mankind has come up with many brutal, horrifying and drawn-out ways of torturing and killing each other, it seems that out own biology makes even the most sadistic torquemadas seem like a gentle little kitten.
re-reading this thread, this is the one that scares the fuck out of me the most

edit, also what I said earlier about similar diseases still applies rn
 
Last edited:

Chester Rigby

Eventually relevant. Trust me.
kiwifarms.net
Bosma Arhinia Microphthalmia Syndrome - BAM Syndrome
(Less then 100 cases have ever been reported)

This disorder has 3 main featres:
  • Complete absence of the nose​
  • Eye defects​
  • Absent sexual maturation​
Examples of the eye problems an include having no tear ducts to Microphthalmia (very small eyes with blindness). Boys may be born with micropenis and/or undescended testes. Girls will not develop breasts or have menstrual periods. There is no effect on intelligence nor decrease in life expectancy, This disorder occurs spontaneously in the egg or sperm cell and is not inherited from the parents.

Children with this disorder have a very small (hypoplastic) nose or usually no nose at all. They also lack the internal parts of the olfactory system so cannot smell, those with hypoplastic nose may in rare cases be able to detect very strong, irritating odors.

An issue occurs when babies are born without a nose since babies do not instinctively use their mouths to breath or use their noses to breath when eating. Some will need temporary tracheotomies and oxygen to breath, it is also possible that there will be blockage of lower airways requiring surgery. They may also need extra support with feeding due to this. Children with this disorder may have abnormally small or missing eyes, issues with the iris, issues with the pupils, cleft eyeball, cataracts and all have no tear ducts. They may also have issues with the retina and most will have progressive vision loss if born with sight. They may have other facial differences such as cleft lip or cleft palate, abnormal external ears (too large or too small), and crowded or missing teeth. The reproduction system anomalies are caused by the hypothalamus which does not make the hormone GnRH (gonadotropin-releasing hormone) with this disorder.

Also known as Voldemort Syndrome.
 
Top