[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect]
- PMID: 10464680
- DOI: 10.1007/s001050050947
[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect]
Abstract
Pachyonychia congenita (PC) comprises a heterogeneous group of autosomal dominantly inherited conditions showing characteristic nail thickening and associated signs such as palmoplantar keratoderma, follicular keratoses, and mucosal leukokeratoses. Less frequently epidermal cysts, hairshaft abnormalities, natal teeth and laryngeal involvement may be seen. Phenotypically and genetically two major forms of PC are recognized, pachyonychia congenita Jadassohn-Lewandowsky/PC type I (Medelian inheritance in man-MIM-167200) and pachyonychia congenita Jackson-Lawler/PC type II (MIM 167210). Both conditions show nail deformities, focal palmoplantar keratoderma, and follicular hyperkeratoses. Diagnostically relevant are leukokeratoses of the oral mucosa in patients with PC type I. In contrast individuals affected with PC type II show premature dentition and multiple pilosebaceous cysts predominantly affecting the upper trunk. The latter closely resemble eruptive vellus hair cysts and steatocystoma multiplex. By mutational analysis keratin K6a and K16 gene mutations have been detected in patients with PC type I, and keratin K6b and K17 gene mutations have been shown to be the underlying genetic defect in patients with PC type II.
Similar articles
-
Mutation of a type II keratin gene (K6a) in pachyonychia congenita.Nat Genet. 1995 Jul;10(3):363-5. doi: 10.1038/ng0795-363. Nat Genet. 1995. PMID: 7545493
-
Clinical and pathological features of pachyonychia congenita.J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250204 Review.
-
The genetic basis of pachyonychia congenita.J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. doi: 10.1111/j.1087-0024.2005.10204.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250206 Review.
-
[Type I pachyonychia congenita (Jadarssohn-Lewandowsky)].Klin Padiatr. 1999 May-Jun;211(3):179-83. doi: 10.1055/s-2008-1043783. Klin Padiatr. 1999. PMID: 10412130 German.
-
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.J Invest Dermatol. 2001 Dec;117(6):1391-6. doi: 10.1046/j.0022-202x.2001.01565.x. J Invest Dermatol. 2001. PMID: 11886499
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Research Materials
