Autosomal recessive epidermolysis bullosa simplex. A case report
- 1 January 1994
- journal article
- case report
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 130 (1) , 115-117
- https://doi.org/10.1111/j.1365-2133.1994.tb06895.x
Abstract
We report a male child with autosomal recessive epidermolysis bullosa simplex presenting at birth. The patient subsequently developed cutaneous atrophy, nail dystrophy, milia and alopecia. He had growth retardation and anaemia, but there were no other associated abnormalities. Electron microscopy showed epidermolytic cleavage. The family history indicated an autosomal recessive mode of inheritance.Keywords
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