先天性厚硬爪甲症
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/22 21:44:45」(JST)
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| 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 |
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[edit on Wikidata]
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Pachyonychia congenita is an autosomal dominant skin disorder.
Contents
- 1 Classification
- 2 Signs and symptoms
- 3 Pathophysiology
- 4 See also
- 5 References
- 6 External links
Classification
Pachyonychia congenita may be divided into these 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).
See also
- Unilateral palmoplantar verrucous nevus
- List of cutaneous conditions
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
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Congenital malformations and deformations of skin appendages (Q84, 757.4–757.5)
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| Nail disease |
- Anonychia
- Leukonychia
- Pachyonychia congenita/Onychauxis
- Koilonychia
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| Hair disease |
- hypotrichosis/abnormalities: keratin disease
- IBIDS syndrome
- Sabinas brittle hair syndrome
- Pili annulati
- Pili torti
- Uncombable hair syndrome
- Björnstad syndrome
- Giant axonal neuropathy with curly hair
- hypertrichosis: Zimmermann–Laband syndrome
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Diseases of collagen, laminin and other scleroproteins
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| Collagen disease |
| COL1: |
- Osteogenesis imperfecta
- Ehlers–Danlos syndrome, types 1, 2, 7
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| COL2: |
- Hypochondrogenesis
- Achondrogenesis type 2
- Stickler syndrome
- Marshall syndrome
- Spondyloepiphyseal dysplasia congenita
- Spondyloepimetaphyseal dysplasia, Strudwick type
- Kniest dysplasia (see also C2/11)
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| COL3: |
- Ehlers–Danlos syndrome, types 3 & 4
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| COL4: |
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| COL5: |
- Ehlers–Danlos syndrome, types 1 & 2
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| COL6: |
- Bethlem myopathy
- Ullrich congenital muscular dystrophy
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| COL7: |
- Epidermolysis bullosa dystrophica
- Recessive dystrophic epidermolysis bullosa
- Bart syndrome
- Transient bullous dermolysis of the newborn
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| COL8: |
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| COL9: |
- Multiple epiphyseal dysplasia 2, 3, 6
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| COL10: |
- Schmid metaphyseal chondrodysplasia
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| COL11: |
- Weissenbacher–Zweymüller syndrome
- Otospondylomegaepiphyseal dysplasia (see also C2/11)
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| COL17: |
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| Laminin |
- Junctional epidermolysis bullosa
- Laryngoonychocutaneous syndrome
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| Other |
- Congenital stromal corneal dystrophy
- Raine syndrome
- Urbach–Wiethe disease
- TECTA
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see also fibrous proteins
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UpToDate Contents
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- 1. 爪疾患の概要 overview of nail disorders
- 2. 遺伝性皮膚症 the genodermatoses
- 3. 歯の発達障害 developmental defects of the teeth
- 4. 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
- 5. 新生児の評価 assessment of the newborn infant
English Journal
- Nail removal in pachyonychia congenita: Patient-reported survey outcomes.
- DeKlotz CMC1, Schwartz ME2, Milstone LM3.
- Journal of the American Academy of Dermatology.J Am Acad Dermatol.2017 May;76(5):990-992. doi: 10.1016/j.jaad.2016.08.060.
- PMID 28411774
- Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.
- Rittié L1, Kaspar RL2, Sprecher E3, Smith FJ4.
- The British journal of dermatology.Br J Dermatol.2017 Mar 27. doi: 10.1111/bjd.15417. [Epub ahead of print]
- PMID 28345191
- Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.
- Cammarata-Scalisi F1, Natsuga K2, Toyonaga E2, Nishie W2, Shimizu H2, Avendaño A1, Araque D1, Da Silva G1, Bellacchio E3, Callea M4.
- Journal of the European Academy of Dermatology and Venereology : JEADV.J Eur Acad Dermatol Venereol.2017 Feb;31(2):e94-e96. doi: 10.1111/jdv.13800. Epub 2016 Jul 21.
- PMID 27445120
Japanese Journal
- 症例 ケラチン16遺伝子にp.Leu132Pro変異を認めたPachyonychia Congenita
- 神田 真聡,夏賀 健,秋山 真志,清水 宏
- 日本小児皮膚科学会雑誌 = Journal of pediatric dermatology 28(2), 211-213, 2009-11-30
- NAID 10026418354
Related Links
- 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.
- Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life, although a rare form of the condition known as pachyonychia ...
★リンクテーブル★
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- 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
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- 英
- pachyonychia congenita
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- 関
- congenital、congenitally