Abstract
Pachyonychia congenita (PC), a rare autosomal dominant keratin disorder characterized by severe, painful, palmoplantar keratoderma (PPK), hypertrophic nail dystrophy, cysts and oral leukokeratosis is caused by mutations in keratin genes; KRT6A, KRT6B, KRT16 or KRT17. Mutations in KRT6C cause PPK with insignificant nail changes. The International Pachyonychia Congenita Research Registry has collected clinical and molecular data from 600 PC patients in 261 families worldwide. We report molecular analysis of families registered during the last 2 years of this expanding case collection.
Highlights
Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis
Mutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations
Samples were obtained by the International Pachyonychia Congenita Research Registry (IPCRR) with informed consent and ethical approval from Western Institutional Review Board (IRB), which complies with all principles of the Declaration of Helsinki (Western IRB study no. 20040468)
Summary
Funding sources F.J.D.S. and N.J.W. are supported by a grant from the Pachyonychia Congenita Project www. pachyonychia.org (to F.J.D.S.). The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z to W.H.I.M.). Conflicts of interest None declared.
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