[Ultrastructural and genetic aspects of epidermolysis bullosa albo-papuloidea (author's transl)].

Abstract

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.

• Authors: D Lambert, C Effantin, E Justrabo, J Gavanou, J L Chapuis
• Journal: Annales de dermatologie et de venereologie (Ann Dermatol Venereol) Vol. 104 Issue 12 Pg. 841-4 (Dec 1977) ISSN: 0151-9638 [Print] France
• Vernacular Title: Aspects ultrastructuraux et génétiques de l'épidermolyse bulleuse albo-papuloïde.
• PMID: 613950 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Epidermolysis Bullosa (genetics, pathology)
• Humans
• Jaw Abnormalities (diagnostic imaging)
• Male
• Pedigree
• Radiography
• Skin (pathology)