Pure hair-nail type ectodermal dysplasia
| Pure hair-nail type ectodermal dysplasia
| |
|---|---|
| Synonyms | Hair-nail ectodermal dysplasia
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Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type.[1] Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.[2]
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