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Late‐onset pretibial recessive dystrophic epidermolysis bullosa
Author(s) -
Mahto A.,
McGrath J. A.,
Deroide F.,
Rustin M. H. A.
Publication year - 2013
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12072
Subject(s) - dermatology , medicine , compound heterozygosity , epidermolysis bullosa , genetic disorder , genetic counseling , disease , genodermatosis , loss of heterozygosity , pathology , epidermolysis bullosa dystrophica , mutation , genetics , gene , biology , allele
Summary Pretibial epidermolysis bullosa ( EB ) is a rare form of localized dystrophic EB , characterized by recurrent blistering and scarring plaques occurring predominantly in the pretibial area. In most cases, nail dystrophy, especially of the toenails, is also present. Often there are no clinical abnormalities at birth, and the disorder may only appear after several years. We report a patient who developed symptoms in his fifth decade. Genetic testing identified compound heterozygosity for two pathogenic mutations in the COL 7A1 gene. This case highlights a rare variant of mechanobullous disease, and stresses the importance of molecular screening in establishing a correct diagnosis. Precisely why the disorder specifically localizes to the shins or why it may only become apparent in later life is not known.