Treatment for EB

• Genetic Counseling 
• Skin Care: Wound Care and Special Dressings 
• Nutritional Problems 
• Gastrointestinal Problems 
• Ocular Problems 
• Syndactyly 
• Psychological Counseling

Genetic information provided by mutation analyses on EB candidate genes provides an immediate benefit to families of EB patients. Siblings of an individual with recessive EB who contemplate having a child often want to know whether or not they are carriers of the abnormal allele. Fetal DNA can be obtained from either chorionic villus sampling as early as 8-10 weeks or amniocentesis in the second trimester of pregnancy.

Daily skin care is a mainstay of treatment in EB, with avoidance of trauma a primary goal. In EBS, maintenance of a cool environment and the use of soft, well-ventilated shoes are advisable. Blistered skin can be treated with modified Dakin's solution (diluted 1: 4 with water) or simple saline compresses followed by topical antibiotics; in inflamed lesions the use of topical steroids may produce some degree of relief. Topical treatment for severely affected junctional and dystrophic patients with the use of non-adhering dressings, such as Exu-Dry are extremely helpful in providing symptomatic relief. Gentle bathing and cleansing in modified Dakin's solution is best followed by application of the protective emollient and non-adherent dressing. 

In addressing the chronic hypertrophic granulation tissue seen in the periorificial regions of the face in JEB, the use of keratinocyte autographs may be worthy of consideration. Such autographs, however, have demonstrated no significant benefit in the treatment of non-hypertrophic granulation tissue wounds in RDEB. 

Management of cutaneous infections is an important part of EB patient care. Systemic antibiotics are frequently used for cutaneous infection and chronic wound colonization is managed best by regular cleansing and bathing in modified Dakin's solution and topical antibiotics as needed. Modified Dakin's solution is 2 teaspoons of Clorox per gallon of bath water.

Nutritional assessment and support for EB patients is critical for several reasons. Extensive cutaneous injury such as that which occurs in severe epidermolysis bullosa cases is associated with increased protein and caloric requirements. Children with EB who become anemic due to a chronic loss of blood from blisters and open skin lesions are often given iron supplements. 

Nutritional supplementation somewhat similar to that required for burn victims is important and a blenderized diet should be used for all patients with esophogeal symptoms (ex. esophogeal lesions). In addition, oral blistering, abnormal esophageal motility, strictures (narrowing), dysphagia (difficulty swallowing), diarrhea, malabsorption, and dental problems all can impair nutritional uptake. 

A very disabling complication in patients with severe EB is esophageal strictures, or narrowing of the esphagus. Surgically widening the esophagus (esophageal dilation) has been helpful in loosening strictures. In advanced cases, the removal of esophageal strictures by colonic interposition has proved effective. Colonic interposition is a surgical substitution of the non-functioning esophagus with a portion of the large intestine. Gastrostomy tube insertion has also proved effective in providing nutrition to individuals who are unable to consume an adequate amount of calories by mouth. 

Constipation is another common complication of EB that can be treated with increased fluid and fiber intake, and stool softeners.

Because many of the tissues of the eyes develop from the skin, the eyes may be involved in EB, especially in DEB. The most important treatment for EB patients with irritation of the ocular surface is the conscientious use of supplementary lubrication to aid in tear film maintenance. Abnormal lid function and/or reduced tear secretion often exacerbate the problem of ocular surface fragility. Therefore, it is essential to provide artificial tear solutions and lubricating ointments as wetting agents. Lateral tarsorrhapy or moisture chamber goggles may be necessary in patients with severe dry eyes.

Corneal abrasions should be treated with prophylactic topical antibiotic and pressure-patch dressing when appropriate.

Scarring of the eyelids is treated supportively with ocular lubricants. Symblepharon (abnormal tissue attachment of the eyelid to the eyeball) is often tolerated until it limits mobility of either the lid or globe. Surgical separation of the eyelid from the eyeball and appropriate reconstruction of the epithelial surfaces can prevent recurrence of adhesions. However, recurrent attachment often leads to recurrent surgeries.

The mitten deformity of the hand which occurs frequently in the severe recessive dystrophic patients is the result of repeated episodes of blistering and scarring with the resultant fusion of web spaces. As a result, fine manipulative skills and digital prehension are lost. 

• Placing custom-fitted splints between the fingers and toes may help slow down the fusion.
• Another method is to place strips of non-adherent gauze (ex. Vasoline-impregnated gauze) between the digits. 
• Surgical procedures can often correct mitten syndactyly. There is a high incidence of recurrence post surgery, but this can be delayed by the prolonged use of splinting in the interphalangeal spaces. 

Psychological Counseling

• Adult and family
• Pediatric