[Ultrastructural and genetic aspects of epidermolysis bullosa albo-papuloidea (author's transl)].
The authors report a case of epidermolysis bullosa dystrophica and albo-papuloidea, which led them to the discovery of eight similar cases in the same family. After analysing the main symptoms, including the histological ones, they underline the ultrastructural and genetic data. This disease can be described as a dermolysis bullosa with missing fibrils, abnormal connective tissue and an intense activity of fibroblasts. As far as we know, there is no genetic relationship with the HLA system in this dominant hereditary trouble, which is believed to be transmitted through different non-allelic genes.
D000328:Adult; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007569:Jaw Abnormalities / Q000000981:diagnostic imaging; D008297:Male; D010375:Pedigree; D011859:Radiography; D012867:Skin / Q000473:pathology
Aspects ultrastructuraux et génétiques de l'épidermolyse bulleuse albo-papuloïde.