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March 1969

Epidermolysis Bullosa of the Esophagus

Am J Dis Child. 1969;117(3):349-351. doi:10.1001/archpedi.1969.02100030351021

EPIDERMOLYSIS bullosa is a rare chronic hereditary disease of the skin and mucous membranes characterized by development of bullae following slight trauma. Newcomber et al1 described two main forms of the disease: simplex and dystrophic, the latter occurring in both dominant and recessive forms. This disease may involve internal organs lined with squamous epithelium as well as the skin. Esophageal changes have been described only in the recessive dystrophic form. To our knowledge only 19 children with the dystrophic form of epidermolysis bullosa have been reported, and none of these reports have appeared in the pediatric literature.2-5 The purpose of this report is to describe this complication in two siblings.

Report of Cases  Case 1.—A 14-year-old white boy was the product of an uncomplicated pregnancy and delivery with a birth weight of 3,175 gm (7 lb). At birth he was denuded of epithelium distal to the knees, and