Epidermolysis Bullosa. Presented by Arron B. Lerner, MD, Mendall Jordan, MD.
A 7-year-old boy has had a blistering disorder since one day after birth. At 1 year of age he developed dysphagia; a barium swallow showed constriction of the middle third of the esophagus. He has had pruritus, which was relieved by systemically administered steroids but not by antihistamines. Recently, he has had difficulty passing stools and developed rectal fissures. The slightest trauma caused bullae; healing was associated with scarring and milia formation. There was no history of consanguinity. The patient's father has occasional blisters on his knuckles, hands, and ankles as well as violaceous plaques and milia over his knuckles. The development of the father's skin disease was concomitant with a flare of regional ileitis and was thought to represent acquired epidermolysis bullosa.An examination of the boy showed generalized