Epidermolysis Bullosa Hereditaria Dystrophica et Polydysplasticaの1重症例

Abstract

A baby girl, at the age of 5 days, has had a widespread bullous eruption and defect of epithelium involving the mouth, elbows, feet, knees, and ankles, since her birth. The nails were thickened and clawlike. There is no family history of this condition. The baby was quite well nourished, and at first, three was some improvement, but fresh bullae continued to appear. She stopped eating and lost weight, and died at the age of 82 days, autopsy was performed. Autopsy findings: The death of the patient was due to bronchopneumonia directly. The significant microscopic changes were hypoplasia of the thymus, lymphfollicls of the spleen and other lymp happaratus. Histopathologic specimen of the skin showed that the bullae were formed between the epidermis and the corium. PAS-positive basement membrane was located on the side of the epidermis, not corium. We think that epidermolysis bullosa hereditaria dystrophica et polysplastica in the newborn have to be differentiated from epidermolysis bullosa letalis clinically or histologically.