An Adult Patient with a Rare Subform of Recessive Dystrophic Epidermolysis Bullosa Inversa (Gedde-Dahl)

A 53-year-old male patient was referred for evaluation of recurrent erosions of inguinal and anogenital areas, both lower legs and the oral mucosa. In addition, almost all nails and several teeth were lacking, and the residual teeth showed enamel defects. History revealed congenital absence of skin of large parts of the lower legs and widespread blistering in early childhood. Antigen mapping showed immunoreactivity against collagen XVII, laminin 332, collagen IV and collagen VII at the epidermal side of a skin split. Molecular analysis resulted in the identification of compound heterozygous mutations in exon 3 (c.425A>G) and exon 74 (p.Arg2069Cys) of the COL7A1 gene which has been reported in one family before. We conclude that our patient suffers from recessive dystrophic epidermolysis bullosa (EB) inversa, a rare subtype of dystrophic EB first described by Gedde-Dahl. Remarkable is the relatively mild course with clinical features formerly known as Bart syndrome.