Keratin 17 mutations in four families from India with pachyonychia congenita

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Ind...

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Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Pachyonychia congenita type 2 (PC-2; Jackson-Lawler syndrome) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, mild focal keratoderma, multiple pilosebaceous cysts and other features of ectodermal dysplasia. Keratin 17 (K17) is a differentiation-specific keratin expressed in the nail bed, hair follicle, sebaceous gland and other epidermal appendages. Previously, w...

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Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

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Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17.

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Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.

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Keratin 17 mutations in four families from India with pachyonychia congenita

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