Epidermolysis Bullosa: The Pediatrician's Role

Epidermolysis bullosa (EB) refers to a group of genodermatoses that present with skin fragility. Patients with this condition present life-long blistering and bullae formation in their skin and mucosal membranes as a response to minor friction or trauma. A revised classification has recently been published and three major types of EB we are identified: simplex, junctional and dystrophic. In each of these subtypes a spectrum of clinical manifestations can be found, varying from very mild to disfiguring and disabling disease. Pediatricians are likely to be the first to encounter patients with EB. Patients may be born with findings suggestive of EB or develop these shortly after. The initial severity of presentation does not indicate prognosis, so clinical classification early on is discouraged. Regardless of the subtype of EB, pediatricians should be aware of the constellation of findings they might encounter when caring for these patients. Although many of the efforts are going to be directed to prevention of skin lesions and wound care, this is not a condition that is limited to the skin. Patients may develop systemic compromise, involving eyes, teeth, oral mucosa, gastrointestinal tract, genitourinary tract and respiratory, cardiovascular, musculoskeletal and hematological systems. In the absence of a cure for EB, efforts are targeted towards prevention and treatment of complications and towards improving patients' quality of life. In order to do this, pediatricians should be aware of possible complications, recognize them promptly and provide appropriate care.