An alternative method for diagnosing suspected recessive dystrophic EB involves a biochemical test for enhanced expression of collagenase by fetal fibroblasts. Supportive treatment of EB is directed toward promotion of wound healing and prevention of complications. The use of occlusive dressings such as Duoderm may promote granulation tissue formation and wound healing. This drug may act by inhibiting the production or release of collagenase by dermal fibroblasts. Other systemic drugs that have been investigated include the retinoids, chloroquine, vitamin E, and systemic glucocorticoids.
Glucocorticoids also inhibit collagenase activity, but side effects preclude long-term use.
A multidisciplinary approach that includes genetic counseling, psychological or psychiatric counseling, and support systems for the patient and family is essential, particularly for managing the severe forms of the disease. The blisters, which are dermolytic, develop below the epidermis and heal with atrophic scars and malformation. They are usually confined to the extremities at sites of mechanical trauma. The condition may be difficult to distinguish from mild dominant dystrophic epidermolysis bullosa, and some cases may represent delayed onset of this disease. Underlying malignant, autoimmune, and inflammatory diseases may be associated with this condition.