Article
Clinical and pathological features of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings - 1 Oct 2005
Leachman Sancy A, Kaspar Roger L, Fleckman Philip, Florell Scott R, Smith Frances J D, McLean W H Irwin, Lunny Declan P, Milstone Leonard M, van Steensel Maurice A M, Munro Colin S, O'Toole Edel A, Celebi Julide T, Kansky Aleksej, Lane E Birgitte
Abstract excerpt
Pachyonychia congenita (PC) is a rare genodermatosis affecting the nails, skin, oral mucosae, larynx, hair, and teeth. Pathogenic mutations in keratins K6a or K16 are associated with the PC-1 phenotype whereas K6b and K17 mutations are associated with the PC-2 phenotype. Analysis of clinical, pathological, and genetic data from the literature and two research registries reveal that >97% of PC cases exhibit...
Topics
- Darier Disease
- Ectodermal Dysplasia
- Female
- Genes, Dominant
- Genotype
- Humans
- Keratins
- Keratoderma, Palmoplantar
- Male
- Mutation
- Nails, Malformed
- Phenotype