EPIDERMOLYSIS BULLOSA

By Gary M. White, MD

Epidermolysis bullosa


Epidermolysis bullosa is a category of inherited diseases in which some defect in the skin leads to skin fragility, blistering and often scar formation. There are many different types, but the usual separation is into simplex, junctional and dystrophic. A full description of EB is beyond the scope of this website and clinicians should consult with a pediatric dermatologist trained in the diagnosis and care of patents with EB.

Treatment

A multidisciplinary approach is needed. Patients should be evaluated initially by an expert in EB.

Within the US there are a variety of centers that serve specific catchment areas. Therapy of the skin is often carried out by a pediatric dermatologist with expertise in this area.

Nutritional aspects are of key importance in patients with EB [An Bras Dermatol. 2015 Mar-Apr; 90(2): 217–223].

Patients often soak in the bath to gently remove bandages followed by application of new ones. (e.g. vaseline gauze). No tape should be applied to the skin. Antibiotics may be needed for infection.

For dystrophic EB, chronic malnutrition and growth failure are common features of severe disease. This is because the oropharyngeal mucosa, esophagus and anal canal are also affected. Increased nutritional requirements plus decreased intake due primarily to esophageal stricture can cause major problems. Several approaches have been taken.

SCC

Patients with EB are at increased risk for squamous cell carcinoma. Patents need routine surveillance and any suspicious growths should be biopsied. Unlike typical SCCs, EB-associated SCCs tend to arise at sites of chronic skin blistering, wounds and scarring. Additionally, EB-associated SCC tends to be more aggressive and can be a significant source or morbidity and mortality, especially in RDEB [BJD 2016;174;56].

Nevi and Melanoma in EB patients

Nevi in EB patients may mimic melanoma. Although the vast majority are benign, melanoma may occur. Thus, active surveillance of EB nevi is appropriate.

Additional Pictures

Epidermolysis bullosa simplex. Courtesy O. Dale Collins, MD
Epidermolysis bullosa simplex

Multiple milia in healed areas are seen.
Epidermolysis bullosa Epidermolysis bullosa

Erosions, bulla, milia and fragile skin.
Epidermolysis bullosa Epidermolysis bullosa Epidermolysis bullosa Epidermolysis bullosa

References

Significant peeling of the skin in a newborn with pyloric atrisia and EB. Peeling skin in newborn with abdominal distension. Indian J Paediatr Dermatol 2016;17:29-31

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