[Epidermolysis bullosa dystrophica inversa: report on 2 sisters].
Two sister cases of epidermolysis bullosa dystrophica inversa are reported. This type, first described by Gedde-Dahl (1971), is characterized by the inverse site of skin involvement, the intermittent course, frequent traumatic corneal erosions, retarded development of skin atrophy and absence of milia formation. Our present cases had all these characteristics except the corneal involvement. The pedigree of this family favors an autosomal recessive mode of inheritance; no consanguinity is demonstrable in the ancestors over four generations. Electron microscopic examination in one of the patients reveals the blistering beneath the basal lamina, which suggests that the pathogenesis may be similar to the Hallopeau-Siemens type rather than to the junctional type of epidermolysis bullosa.
D004820:Epidermolysis Bullosa / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004940:Esophageal Stenosis / Q000150:complications; D005260:Female; D006225:Hand; D006801:Humans; D008875:Middle Aged; D009262:Nails; D010375:Pedigree; D012867:Skin / Q000473:pathology / Q000648:ultrastructure
Epidermolysis bullosa dystrophica inversa: Bericht über zwei Geschwisterfälle