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|The mounting cost of bandages is most often not covered by an EB family's health insurance.||89.4¢ of every dollar donated goes directly to EB patients, families, and research.|
|7||Other Healthcare Problems|
|7.9||Scarring, Contractures, and Syndactyly|
|7.12||What Does the Future Hold for a Patient with EB?|
|7.14||What Can Research Tell Us About EB?|
The following material describes a variety of problems that can be associated with EB. It is important to bear in mind, however, that not all of these problems occur in each EB patient. Some will have none or a few; others may have nearly all of these.
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.
Attention to the nutrition of the child may be important from the beginning. Immediately after birth, fluid and protein loss, which may cause chemical imbalances, can be a major complication in recessive and some dominant types of EB. Unless the baby requires isolation for medical reasons, closeness of the mother and child should be encouraged and will help make early feedings successful. Oral or breast feedings can begin as soon as the sucking reflex is demonstrated, unless the doctor indicates otherwise. If the infant has difficulty sucking because of blisters in the mouth, use a preemie nipple (a soft nipple having holes large enough to permit milk to drop into the mouth), a rubber-tipped medicine dropper or a syringe. Powdered nutritional amplifiers, which can add calories and protein, are now available that can be mixed with mother's milk, and there are formulas that have higher than average calorie and protein concentrations. Follow the physician and/or dietitian's instructions in the use of such products and in the selection of an appropriate formula.
When the child is about six months old and pureed food has been introduced, it can be helpful to add extra liquid to the pureed food to facilitate swallowing in those who have mouth blisters. Hot drinks or foods can be irritating; if so, beverages and foods should be served lukewarm, at room temperature, or cold.
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. If the child can tolerate milk, whole milk can be enriched by adding an "instant breakfast" mix or flavorings. A "fortified milk" can be prepared by adding nonfat dry milk powder to whole milk. "Fortified" milk can be served plain, flavors added or used to make sauces, cream soups, warm, not hot cereals, mashed potatoes, milkshakes, custards, puddings, and cocoa; it can be used in any recipe calling for milk to add extra calories and protein. If milk is not tolerated, liquid nutritional supplements may be recommended. These can be purchased at a pharmacy upon advice of a physician and/or dietitian. Most liquid supplements can be used in recipes such as custards, puddings, and soups and are available in a variety of flavors. It is wise to interchange products and flavors to offer variety so the child will not become bored. Some have found it helpful to start and complete each feeding with a cool, not cold, good tasting liquid including ice cream or cool liquid frozen yogurt.
Even when a child with EB does not have oral blistering or swallowing problems, he or she may need supplements of high-calorie, or high-protein drinks or of vitamins, minerals and trace elements.
The physician should be consulted as to whether a supplement is needed and, if so, the amount to be prescribed. Large doses of vitamins and minerals (megadoses) are not recommended. Caution should be exercised in terms of any diet or supplement that promises miraculous results. Such approaches are often attractive to parents of children with chronic diseases, but such alternatives to a varied, nutritious diet can result in malnutrition.
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.
In instances where esophageal stricturing is so severe, dilatation may not be helpful, a gastrostomy tube or gastric button device may be indicated to increase the individualÂ’s nutritional intake. A gastrostomy tube is inserted to an opening (stoma) into the stomach for the delivery of nutrients, fluids and medications. The procedure is usually done by a surgeon or a gastroenterology surgeon. In many instances feedings through the gastrostomy tube are given overnight using a pump. (Please note the head of the bed should be slightly elevated when infants/ children are receiving feedings.)
The use of gastrostomy tubes may be helpful in the nutritional management of infants and small children in EB who do not have esophageal involvement but need nutritional enhancement intake for growth purposes and wound healing.
If naso gastric tubes are used it is usually short term due to risks of esophageal erosions and infection.
Gastroesophageal reflux is the back up of stomach acid into the esopohagus in many instances this may cause discomfort and reduce desire to feed.
Symptoms of gastroesophageal reflux may include:
- Cranky and pushing away bottle after a few minutes of feeding.
- Reluctance to feed.
- Milk may be present in mouth between feeds.
If gastroesophageal reflux is suspected it is helpful to consult a Pediatric Gastreonterologist. Physician may order various diagnostic tests such as endoscopy, pH testing and/or various radiographic studies to rule out the presence of reflux.
Interventions may include the following:
- Feeding with head slightly elevated.
- Physician/ Gastroenterologist may prescribe various medications that decrease gastric acid production. ( Some medications that control acid reflux are sold over the counter, however, since dosages vary it is important to consult with physician prior to using over the counter medications.)
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.
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:
- Reluctance to feed
- Loss of appetite
- Abdominal discomfort
- Abdominal bloating
Goal: Soften stool to reduce discomfort and constipation.
Constipation may be due to:
- Erratic eating patterns, low fluid and fiber intake.
- Soft tissue injury in mouth, trouble chewing, swallowing, problems with dentition, esophageal scarring and/or webbing all contribute to poor dietary intake of fiber containing foods such as cereals, breads, fruits and vegetables.
- Most iron supplements have been known to contribute to constipation.
- Since the gastrocolonic reflex is stimulated by ingestion of food, avoidance of eating, apathy and loss of appetite worsen the nutritional status.
- Extensive blistering leads to increased fluid requirements.
Interventions may include the following:
- Input by a pediatric dietitian/nutritionist many times can be helpful in formulating a dietary regimen that reduces constipation and/or fecal impaction.
- For infants it may be helpful to offer fluids such as cooled boiled water. If you want to add flavor, try one teaspoon of fruit juice in 100 milliliters of water.
- Liquid enteral formulas like Pediasure with fiber may improve gastro-intestinal function.
- Offer fruits such as prunes, pears, peaches and apricots.
- Prepare foods in forms that are easier to swallow such as broth, pureed meats, vegetables and fruits.
- Some have found it enjoyable to liquefy depitted fruits and freeze them into the form of an ice pop.
- Try not to sieve foods, it will decrease the fiber content.
Below is a list of various medications used for constipation. Please consult physician prior to using any medications. Though some of these may be sold over the counter it is important to check with the physician for specific dosages, possible interactions and side effects.
- Stool softeners such as (Docusate Sodium) allow for easier passage of stool.
- Hyperosmotic laxatives such as (Lactulose) and osmotic agents such as (Miralax) help move water into intestines, soften stool and stimulate peristalsis.
- Stimulant laxatives such as (Senekot, Bisacodyl) stimulate peristalsis allowing for the movement of feces through the intestines.
- Psyllium containing bulk laxatives such as (Metamucil)when in contact with water produces a lubricating gelatinous bulk which promotes peristalsis and natural elimination.
- Fiber and bulk laxatives need to be taken with good amounts of fluid in diet to mobilize the bulk through the intestines.
- Discuss different types of iron supplementation with physician. Some iron complexes were found to be less irritating to the gastrointestinal tract than others.
- If a medication for constipation is prescribed by a physician, it is helpful to administer them regularly to avoid worsening of the problem.
Sometimes a child may be fecally impacted, but have diarrhea. If laxatives and stool softeners are discontinued (due to the diarrhea) this will worsen the problem. Consult your child’s physician when in doubt.
Hard stools lodged in the large intestine (fecal impaction) usually requires a hospital visit. Fecal impaction is usually seen on abdominal xray.
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.
|7.8||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.
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 (syndactyly).
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. Scarring may decrease opening of mouth (microstomia). Scarring may limit movement of the tongue (ankyloglossia).
Interventions may include the following:
- Wrapping in between digits using strips of contact layers such as Mepitel (Molnlycke Health Care) and/or impregnated gauze such as Vaseline gauze (Kendall) may help delay the process of webbing.
- Whenever possible during the day, infants should be encouraged to discover and manipulate their hands to allow for better movement. Due to the possibility of rubbing and potential injury this should be done under supervision. During night time hands may be re-wrapped.
- Some people have found it helpful to use splints during the night to reduce chance of contractures. Splinting varies with age of person affected. Splints are made using a very heat labile moldable material.
- Consult with an Occupational therapist. They are very helpful in creating programs of activity that optimize hand function. The OT may be helpful in teaching methods of wrapping that allow for range of motion of fingers and hands. Ask the OT about range of motion exercises that you can perform on your infant/child throughout the day. Specially designed equipment such as scissors and pencils with foam padding reduce discomfort while children participate in arts and crafts.
- If the function of the hand is impaired it is advisable to consult with either a Plastic Surgeon or a Hand Surgeon. The Surgeon will determine if it is in fact necessary to perform surgery or to wait. The surgical procedure involves separating the fused digits and releasing contractures while under anesthesia. Skin grafts or various bioengineered skin products may be used to cover wounds and/or donor sites. Hand splints are used to help keep fingers separated and hands in extended position post surgically. Careful instructions for post care should be given by the surgeon. Healing usually takes several months for this reason, only one hand is done at a time.
- The child with EB should be encouraged to be as active as possible, and physical therapy is often beneficial. Swimming is a good form of exercise for children with EB.
- If child has difficulty speaking and/or eating parents may consult with a speech therapist. Mouth and tongue excercises can help improve speech. (Early intervention programs provide occupational therapists, speech therapists and physical therapists for children under three years of age. For more information contact early intervention
in your state.)
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.
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.
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.
|7.12||What Does the Future Hold For a Patient With EB?|
As described earlier, EB can range from a relatively mild condition to a severely disabling, and sometimes fatal, disease. Patients with milder forms may have periods of "temporary disability," but can lead a relatively normal life. In more severe forms, EB can be emotionally and physically devastating and cause the person to be disabled and deformed. Proper care and family support, however, can greatly enhance the quality of life for EB patients.
Despite the physical problems the disorder can cause, there is no impairment of intelligence.
There are many psychological problems that patients with EB must learn to cope with: the teasing of classmates, the stares from others, the jokes, the loneliness of being different. Many patients overcome these problems with the support of well-informed, caring parents and friends. As all children do, those with EB need love and acceptance.
Children's tissues become less delicate with age; many forms of EB begin to lessen to some degree as the child gets older. Patients given good, consistent, and intensive care early on have the best chances of doing well.
When one or more children in a family has a chronic disease that requires constant or almost around-the-clock care, the entire family is affected. Family therapy or support groups can:
- Help each member of the family accept and deal with long-term chronic illness;
- Help relieve guilt;
- Make it easier to cope with the child's and the parents' feelings;
- Make a difference because the parents, attitude can affect the way a child copes, handles his own care, and interacts socially with peers and people in general.
- Help to deal with siblings and spouses, feelings.
Click on (Support Groups) for a listing of Debra support groups.
|7.13||What Can Research Tell us About EB?|
By Alan Moshell MD, Skin Diseases Program Director - National Institutes of Arthritis and Musculoskeletal and Skin Diseases.
Research in Epidermolysis Bullosa and related areas are being supported by the National Institute of Arthritis and Musculoskelatal and Skin Diseases, other components of the federal governmentÂ’s National Institutes of Health, and voluntary agencies such as Debra of America.
Essentially all forms of hereditary Epidermolysis Bullosa are due to structural molecule abnormalities in the skin. These molecules may either be present but abnormal in structure, or greatly reduced or absent. Skin has two principal layers, the outermost layer known as the epidermis and the lower layer known as the dermis. The area where these layers come together is called the basement membrane zone. The molecules involved and abnormal in Epidermolysis Bullosa are located either in the bottommost portion of the epidermis, the basal layer, within the basement membrane zone, or in the uppermost part of the dermis.
Under the microscope, skin from patients with the simplex or epidermal forms of EB develop blisters within the basal layer of the epidermis. In most of these forms of EB the abnormality is in a molecule called keratin which forms the internal structure of the basal cell. The abnormalities in these proteins result in a weakness in the cells and they disintegrate under mechanical stress resulting in the blister in this area.
The basement membrane zone of skin is a very molecule rich area with many molecules involved in the attachment of the epidermis above to the dermis below. Defects in quite a number of these molecules have been associated with the junctional forms of Epidermolysis Bullosa. The most severe forms are usually associated with defects in a molecule called laminin 5. Less severe forms of the disease may be associated with a variety of other molecules found in this area.
The dystrophic forms of EB, both recessive and dominant, are usually due to defects in a molecule of the upper dermis called collagen VII. Under the electron microscope, this molecule forms a structure called anchoring fibrils. In the recessive form of the disease, the defect is usually more severe than in the dominant form of the disease.
A variety of techniques have been developed and used over the years to visualize these molecules and assist in the diagnosis of patients with hereditary blistering diseases. Electron microscopic techniques along with immunofluorescence and immunoelectromicroscopy were the mainstays of research until these specific genes for these various molecules were identified. With the identification of the genes, it is now possible to specifically and directly examine the various potential genes involved and identify specific defects in individual patients and in families. This allows for both a much more specific diagnosis and for the further studies now ongoing to correlate specific gene defects with the protein abnormalities that they produce. These investigations will allow a better understanding of exactly how the molecules function and make interventions designed to strengthen these molecular interactions or bypass them by getting other molecules to take their place possible. These studies are still in their infancy but therapeutically useful approaches can result from these investigations.
With the specific genes known, it is possible to very accurately perform prenatal diagnoses on infants at risk to assist those families who want such information in making decisions. There is also research making use of this technology as part of in vitro fertilization to select embryos that do not contain the abnormal gene for implantation in an attempt to assure normal offspring in families at risk without the need for abortions.
In addition, there is investigation of gene therapy approaches for the treatment of these diseases. These are still at the preclinical stage meaning that the baseline studies have been done proving feasibility but as yet no human trials have resulted. Human trials are to be expected in the near future but when and even if this approach ever proves feasible as a corrective therapy for any form of Epidermolysis Bullosa is still an open question.
Much of science is unpredictable. There is no way to know when and from where useful approaches will be forthcoming. Basic research advances are constantly reshaping science and its application. The cardinal objectives are to understand the basic underlying mechanism that lead to this distressing disabling disease and to develop therapies directed at correcting these mechanisms or developing interventions that improve the resistance to blistering by other means.
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