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Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis Bullosa
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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.
Report of Cases
Case 1
A 35-year-old Japanese man complained of toenail deformity since childhood
(Figure 1 E). He had no obvious
dermatologic disorders and had never noted any skin fragility. Further examination
revealed the nail plates of the toes buried in the nail bed, and the free
edge of the toenail was deformed and narrow. The deformity was most severe
on . . . [Full Text of this Article] Case 2
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