Garrett's House is dedicated to the support, advice, and education of a genetic skin condition called Epidermolysis Bullosa or EB for short. Currently there is no cure or effective treatment for EB. Please take a moment to learn about EB, and how you can support others who struggle with EB everyday. Garrett's House also honors the memory of those who lost their brave fight against EB. Please check out the Garden of Angel to learn more about the precious butterfly angels.

April 13, 2010

Secondary Medical Issues Associated with EB

Secondary Medical Issues Associated with EB
(obtained from

Nutritional Concerns :

Good nutrition is essential for all children, but may be more difficult to achieve for a child with a chronic disease such as Epidermolysis Bullosa. 

Nutritional research on EB is in an early stage. However, knowledge gained from working with people with similar conditions, such as skin ulcers or burns, can be helpful for people with EB. Patients with skin ulcers or burns need increased protein and calories. Thus, a person with EB also may need to increase both calories and protein, depending on the severity of the disease. These extra nutritional demands on the body are due to tissue regeneration, fluid replacement and protein loss associated with blistering.

Gastroesophageal reflux is the back up of stomach acid into the esophagus in many instances this may cause discomfort and reduce desire to feed. 

Symptoms of gastroesophageal reflux may include:

1) Cranky and pushing away bottle after a few minutes of feeding.
2) Reluctance to feed.
3) Coughing.
4) Milk may be present in mouth between feeds.

If gastroesophageal reflux is suspected it is helpful to consult a Pediatric Gastroenterologist. Physician may order various diagnostic tests such as endoscopy, pH testing and/or various radiographic studies to rule out the presence of reflux. 

Constipation(is difficulty passing stool). Contributing factors may include discomfort during the passage of stool caused by blistering in the anal margin, suppression of bowel movements due to pain and a diet low in fiber and fluids.
Symptoms of constipation may include:
1) Reluctance to feed
2) Loss of appetite
3) Abdominal discomfort
4) Abdominal bloating

Goal: Soften stool to reduce discomfort and constipation.

Mirilax is commonly used by EB patients and is available over the counter. 

Lactose intolerance (or more properly, lactase deficiency, a condition in which enzyme production is insufficient to digest lactose, the sugar in milk products) has been observed in some children with EB. Milk can be treated with a commercial enzyme product called Lact Aid which, if added to a quart of milk, breaks down the sugar lactose and the milk can then be tolerated. Some stores also sell milk that has already been treated with the enzyme and is therefore more easily digested. In addition, in yogurt most of the lactose is broken down and thus is usually well tolerated Lactose-free formulas and liquid supplements are also available. Your physician and/or dietitian can help you in the selection of an appropriate product.

Eye Problems:
Because many of the tissues of the eyes develop from the same fetal tissue as the skin, the eyes can be involved in EB, particularly in the dystrophic forms of EB. The cornea (the clear outer layer) and the conjunctiva (the mucous membrane covering the eyeball and the underside of the lids) can be damaged. Symptoms are pain, excessive formation of tears or discharge. 

The goal of therapy for this problem is to protect the eye from irritation by increasing the amount of moisture. Eye drops can be useful as can lubrication with a specially prescribed antibiotic ointment. It may be helpful to put the ointment on the eye and patch it for a day or so.

Dental Problems
The infant or young child should begin to see the dentist (or pediatric dentist, if available) shortly after the teeth begin to emerge through the gums. Regular visits will ensure the most preventive care. When the teeth begin to appear, they should be brushed gently with a small, soft multi- tufted toothbrush. Discourage the child from eating sweets. If the water supply is not fluoridated, the dentist may suggest the use of nonirritating fluoride supplements. Some recommend oral swishes after the feeding at the completion of the meal to protect the dentition. 

Dysphagia (difficulty in swallowing) can be a major complication, as EB can cause blistering in the mouth and/or the esophagus. A parent should watch when hard-crusted foods such as toast or crackers are introduced in the child's diet to see if they provoke blistering or a problem when swallowing. Acidic foods and drinks can also be irritating when an ulcer in the mouth is active; therefore, tomatoes and citrus juices may need to be avoided

Anemia-(low red blood cell count)
Many children with EB become anemic due to a chronic loss of blood from blisters and open skin lesions and perhaps due to poor ingestion and absorption of blood-building substances. Specific treatment for iron deficiency anemia is often necessary. Many children have to keep taking supplemental iron even after the anemia has been corrected to prevent it from occurring again. Many commercial nutritional supplements contain iron. Use iron supplements only when recommended by the physician. An adequate intake of protein is also important.

Cardiomyopathy- which is a disease that weakens and enlarges your heart muscle.

Osteopenia and Osteoporosis- condition in which bone mineral density is lower than normal
 Esophageal stricturing :
may be experienced by the more severely affected individual. Scarring within the esophagus can reduce the size of the lumen, causing difficulty in the passage of food, even liquids. Many times children will experience episodes of food impaction with the expectoration of copious amounts of mucous. Though this problem is usually of no immediate danger to the child's airway. It is always helpful to contact the physician when in question. Poor toleration or the refusal to eat compromises nutritional status. Studies may be ordered by the gastroenterologist to assess the need for treatments such as esophageal dilatation. Dilatation is a procedure done under light sedation that incorporates the use of a small balloon to increase the size of the esophageal opening.

Immunizations :
Every child, including those with Epidermolysis Bullosa, should receive the normal immunization shots.
Please consult with physician if child is receiving steroid therapy or other immunosuppressive agents. Physician may reschedule live attenuated vaccinations such as Varicella and MMR for a later date if child is receiving immunosuppressive agents.

Scarring, Contractures and Syndactyly:
Though scarring may occur in rare instances in other types of EB it is important to keep in mind that these manifestations are more likely to occur in a person affected with Recessive Dystrophic Epidermolysis Bullosa.

Syndactyly- (the webbing of the fingers or toes) Repeated friction and trauma on hands and feet causes blistering, in the more severe forms of EB, these blisters heal causing scarring, side to side fusing or webbing together of fingers and toes.

Contractures (shortening of the skin) of the hands and feet may also contribute to loss of function.
Flexion contractures can occur on joints in the feet, knees and hips.

Muscle atrophy (weakening) develop as a result of disuse of a joint.

Microstomia- Scarring in the mouth may decrease opening of mouth.

Ankyloglossia- Scarring around the tongue may limit movement of the tongue. 
Skin Cancers and Dystrophic Epidermolysis Bullosa:
It is important to note that skin cancers usually react differently in a patient with EB. The more severely affected individual (RDEB) appears to be more at risk for developing squamous cell carcinoma. These localized skin cell tumors have the ability to grow faster and spread to other areas of the body more rapidly then they would on a less compromised individual. Patients and caregivers need to examine skin carefully for any changes. It is important to perform self examinations of your skin at home. Many times it is helpful to have family members look at areas that are not often viewed by the affected individual, such as the back or upon the scalp. Mirrors can be helpful in detecting growths on the back of trunk and extremities when you are self examining.

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