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February 2002

Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa

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Copyright 2002 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2002

Arch Dermatol. 2002;138(2):269-271. doi:10.1001/archderm.138.2.266

Symptomatic nail abnormality is an important indicator for the accurate diagnosis of certain hereditary disorders. Thus, nail deformity should receive more careful attention during dermatological examinations. We examined 2 families with dystrophic epidermolysis bullosa (DEB) for mutations in COL7A1,1 the gene encoding type VII collagen, and identified 2 kindreds with familial dystrophic changes limited to the toenails but without skin fragility. These characteristics were inherited in an autosomal dominant manner. We searched for mutations in COL7A1 and found additional evidence for glycine substitutions in COL7A1 associated with dominant familial dystrophic toenail changes.

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