Epidermolysis Bullosa Letalis

Abstract

Three cases of epidermolysis bulbosa letalis are described. The infants were born within 10 miles of one another and the three mothers were related, but showed no evidence of the disease. The fathers also were apparently healthy. At birth all the infants had bullous skin lesions. These progressed in spite of meticulous nursing care, massive doses of antibiotics, corticosteroid therapy and increased dietary protein. The babies became pyrexial and the levels of serum albumin decreased markedly. At necropsy none of the infants had any significant lesions apart from the skin. It therefore seems that loss of serum albumin and electrolytes, and dermal sepsis were responsible for the deaths. Corticosteroid therapy appeared to be of no value. Replacement of lost fluids, on the other hand, would seem to be logical in such cases and should probably be a routine procedure. Abnormalities were observed in the histology of the skin. The earliest lesion was a vesicular degeneration of the basal cells of the epidermis, followed by cleavage at the dermoepidermal junction. In the opinion of the authors, these early lesions produce a diagnostic histologic picture differing from other bullous dermatoses, except possibly some of the other variants of epidermolysis bullosa. A study of the epidermis in future cases of this disease by histochemistry or electron microscopy is likely to elucidate further the nature of the congenital defect in the basal part of the epidermis.