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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/06 22:19:46」(JST)

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Pachyonychia congenita is an autosomal dominant skin disorder.

Classification

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

Pachyonychia congenita type I (also known as "Jadassohn–Lewandowsky syndrome"^[2]) is an autosomal dominant keratoderma that principally involves the plantar surfaces, but also with nails changes that may be evident at birth but more commonly develop within the first few months of life.^[1]^:510^[2]^[3]^:569

Pachyonychia congenita type II (also known as "Jackson–Lawler pachyonychia congenita," and "Jackson–Sertoli syndrome") is an autosomal dominant keratoderma presenting with a limited focal plantar keratoderma that may be very minor, with nails changes that may be evident at birth, but more commonly develop within the first few months of life.^[1]^[3]^:569

Signs and 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

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^[4]^[5] with the fourth gene following in 1998.^[6]

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

^ ^a ^b ^c Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ ^a ^b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 740. ISBN 1-4160-2999-0.
^ ^a ^b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ 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.

External links

GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita
PC Project webpage [1]
OMIM: 260130 Pachyonychia congenita recessive at NIH's Office of Rare Diseases

UpToDate Contents

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1. 色素沈着過剰を有する患者へのアプローチ approach to the patient with hyperpigmentation disorders
2. 新生児および乳児における皮膚および頭皮の良性病変 benign skin and scalp lesions in the newborn and young infant
3. 脂腺母斑および脂腺母斑症候群 nevus sebaceous and nevus sebaceous syndrome
4. 基底細胞癌の疫学および臨床的特徴 epidemiology and clinical features of basal cell carcinoma

English Journal

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Kasparis C1, Reid D1, Wilson NJ2, Okur V3,4, Cole C2,5, Hansen CD6, Bosse K7,8, Betz RC7, Khan M1, Smith FJ2,9.
Clinical and experimental dermatology.Clin Exp Dermatol.2016 Dec;41(8):884-889. doi: 10.1111/ced.12934. Epub 2016 Oct 27.
Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been reco
PMID 27786367

Peripheral neuropathic changes in pachyonychia congenita.

Pan B1, Byrnes K, Schwartz M, Hansen CD, Campbell CM, Krupiczojc M, Caterina MJ, Polydefkis M.
Pain.Pain.2016 Dec;157(12):2843-2853.
We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the bal
PMID 27776012

A novel KRT6A mutation in a case of pachyonychia congenita from India.

Tiwary AK1, Wilson NJ2, Schwartz ME3, Smith FJ4.
Indian journal of dermatology, venereology and leprology.Indian J Dermatol Venereol Leprol.2016 Nov 11. doi: 10.4103/0378-6323.193620. [Epub ahead of print]
PMID 27852996

Japanese Journal

Pachyonychia congenita (Jadassohn-Lewandowsky syndrome) : A 17 member, 4-generation pedigree with unusual respiratory and dental involvement

STEIGLITZ JB
Am J Med Genet 14, 21-28, 1983
NAID 30001971738

「先天性厚硬爪甲症」

Pachyonychia congenita
Classification and external resources
Specialty	medical genetics
ICD-10	Q84.5 (ILDS Q84.520), (ILDS Q84.530)
ICD-9-CM	703.8 757.5
OMIM	167210 167200, 167210
DiseasesDB	32826
eMedicine	derm/812
MeSH	D009264

　　[★]

ラ: pachyonychia congenita
同: ヤーダッソン・レヴァンドフスキー症候群 Jadassohn-Lewandowsky syndrome

「syndrome」

　　[★]

n.

症候群

[FITZPATRICK2003-1] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Bolognia-2] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 740. ISBN 1-4160-2999-0.

[ANDREWS2006-3] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[4] 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.

[5] 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.

[6] 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.

匿名

検索

案内

案内

Jadassohn-Lewandowsky syndrome