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

نویسندگان

  • Neil J Wilson
  • Mónica L Cárdenas Pérez
  • Anders Vahlquist
  • Mary E Schwartz
  • C David Hansen
  • W H Irwin McLean
  • Frances J D Smith
چکیده

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منابع مشابه

Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.

In this issue, Wilson et al. report the first case of homozygous dominant negative mutations in KRT17 in pachyonychia congenita (PC). Homozygous dominant negative mutations are a rare occurrence in keratin disorders and this is a first report in PC. These mutations cause a distinct sub-phenotype of PC that is more severe in the offspring of affected parents and has associated alopecia.

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Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.

Pachyonychia congenita type 2 (PC-2) is an autosomal dominant disorder characterized by hypertrophic nail dystrophy, focal keratoderma, multiple pilosebaceous cysts, and other features of ectodermal dysplasia. It has been demonstrated that PC-2 is caused by mutations in the keratin 17 and keratin 6b genes. In this report, we describe a missense mutation in the keratin 17 gene, M88T, in a Korean...

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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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Keratin 17 null mice exhibit age- and strain-dependent alopecia.

Onset of type I keratin 17 (K17) synthesis marks the adoption of an appendageal fate within embryonic ectoderm, and its expression persists in specific cell types within mature hair, glands, and nail. We report that K17 null mice develop severe alopecia during the first week postbirth, correlating with hair fragility, alterations in follicular histology, and apoptosis in matrix cells. These alt...

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A Research of Pachyonychia Congenita Type 1 and Literature Analysis

Pachyonychia congenital (PC), consist of a group of rare autosomal-dominant ectodermal disorders. Symmetrically thickened, dystrophic fingernails and toenails are the defining characteristic of pachyonychia congenita. There are two main clinical subtypes of pachyonychia congenita: Pachyonychia congenita-1 and pachyonychia congenita-2. Pachyonychia congenita-U is another subtypes of pachyonychia...

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عنوان ژورنال:
  • The Journal of investigative dermatology

دوره 132 7  شماره 

صفحات  -

تاریخ انتشار 2012