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Pachyonychia congenita is an autosomal dominant skin disorder.

Symptoms

Common symptoms include:

Excess keratin in nail beds and thickening of the nails
Hyperkeratosis on hands and feet
Oral lesions that look like thick white plaques
Steatocystoma multiplex
Pain
Blisters

Types

Pachyonychia congenita may be divided into the following types^[1]^:510:

Pachyonychia congenita type I (Jadassohn–Lewandowsky syndrome)
Pachyonychia congenita type II (Jackson–Lawler pachyonychia congenita, Jackson–Sertoli syndrome)

Pathophysiology

The condition is caused by genetic mutations in one of four genes that encode keratin proteins specific to the epithelial tissues affected in the two forms of the disorder. PC1 is caused by mutations in keratin 6A (protein name K6A; gene name KRT6A) or keratin 16 (protein K16; gene KRT16). The PC2 form is due to mutations in the genes encoding keratin 6B (protein name K6B; gene name KRT6B) or keratin 17 (protein K17; gene KRT17). Three of the genes causing PC were identified in 1995^[2]^[3] with the fourth gene following in 1998.^[4]

Inheritance

Pachyonychia congenita has an autosomal dominant pattern of inheritance.

Pachyonychia congenita follows an autosomal dominant pattern of inheritance, which means the defective gene is located on an autosome, and only one copy of the gene is required to inherit the disorder from a parent who has the disorder. On average, 50% of the offspring of an affected person will inherit the disorder, regardless of gender.

Occasionally, however, a solitary case can emerge in a family with no prior history of the disorder due to the occurrence of a new mutation (often referred to as a sporadic or spontaneous mutation).

References

^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ McLean WH, Rugg EL, Lunny DP et al. (1995). "Keratin 16 and keratin 17 mutations cause pachyonychia congenita". Nat. Genet. 9 (3): 273–278. doi:10.1038/ng0395-273. PMID 7539673.
^ Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ (1995). "Mutation of a type II keratin gene (K6a) in pachyonychia congenita". Nat. Genet. 10 (3): 363–365. doi:10.1038/ng0795-363. PMID 7545493.
^ Smith FJ, Jonkman MF, van Goor H et al. (1998). "A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2". Hum. Mol. Genet. 7 (7): 1143–1148. doi:10.1093/hmg/7.7.1143. PMID 9618173. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9618173.

External links

GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita
PC Project webpage [1]
OMIM: 167200 Pachyonychia congenita type 1; Jadassohn Lewandowsky syndrome at NIH's Office of Rare Diseases
OMIM: 167210 Pachyonychia congenita Jackson Lawler type at NIH's Office of Rare Diseases
OMIM: 260130 Pachyonychia congenita recessive at NIH's Office of Rare Diseases

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UpToDate Contents

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1. 遺伝性皮膚症 the genodermatoses
2. アトピー性皮膚炎（湿疹）の病因、臨床症状、および診断 pathogenesis clinical manifestations and diagnosis of atopic dermatitis eczema
3. 爪疾患の概要 overview of nail disorders
4. 歯の発達障害 developmental defects of the teeth
5. Kindler syndrome

English Journal

Non-Invasive Intravital Imaging of siRNA-Mediated Mutant Keratin Gene Repression in Skin.

Hickerson RP1, Speaker TJ, Lara MF, González-González E, Flores MA, Contag CH, Kaspar RL.
Molecular imaging and biology : MIB : the official publication of the Academy of Molecular Imaging.Mol Imaging Biol.2015 Jul 14. [Epub ahead of print]
PURPOSE: Small interfering RNAs (siRNAs) specifically and potently inhibit target gene expression. Pachyonychia congenita (PC) is a skin disorder caused by mutations in genes encoding keratin (K) 6a/b, K16, and K17, resulting in faulty intermediate filaments. A siRNA targeting a single nucleotide, P
PMID 26169581

A novel H1 mutation in keratin 6a in an infant with pachyonychia congenita.

Luo S, Luo Q, Zhang H, Wan C1.
Indian journal of dermatology, venereology and leprology.Indian J Dermatol Venereol Leprol.2015 Jul-Aug;81(4):385-7. doi: 10.4103/0378-6323.158651.
Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p.Ser143Asn) in a Chinese infant patient. The mutation is concurrent with a single-nucleotide polymorphism and resulted i
PMID 26087092

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients.

Kaplan FS1,2,3, Kobori JA4, Orellana C5, Calvo I6, Rosello M5, Martinez F5, Lopez B6, Xu M1,2,3, Pignolo RJ1,2,3, Shore EM1,3,7, Groppe JC8.
American journal of medical genetics. Part A.Am J Med Genet A.2015 Jun 11. doi: 10.1002/ajmg.a.37205. [Epub ahead of print]
Severe variants of fibrodysplasia ossificans progressiva (FOP) affect <2% of all FOP patients worldwide, but provide an unprecedented opportunity to probe the phenotype-genotype relationships that propel the pathology of this disabling disease. We evaluated two unrelated children who had severe r
PMID 26097044