Clouston Syndrome
Classification according to ICD-10 | |
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Q82.8 | Other specified congenital skin malformations |
ICD-10 online (WHO version 2019) |
The Clouston syndrome or Hidrotic ectodermal dysplasia , also Ectodermal dysplasia II is a rare congenital disorder characterized by the triad of nail dystrophy , alopecia (hair loss) and increased callus formation ( hyperkeratosis ) on the palms.
The name refers to the first description in 1929 by the Canadian doctor HR Clouston .
distribution
The frequency is given as 1–9 per 100,000, inheritance is autosomal dominant .
root cause
The disease is based on mutations in the GJB6 gene at location 13q12, which codes for the gap junction protein connexin-30 (Cx30).
Clinical manifestations
Clinical criteria are:
- Nail changes already during or shortly after birth: thickened, brittle and discolored nails as well as microonychia , onycholysis and paronychia
- Alopecia of varying degrees in infancy or childhood on all hairy parts of the body
- However, not always palmoplantar hyperkeratosis
- Sweating is normally possible
diagnosis
The diagnosis results from the clinical symptoms and can be confirmed by the mutation detection. A prenatal diagnosis is possible.
Differential diagnosis
Must be distinguished are the pachyonychia congenita and other forms of ectodermal dysplasia .
Therapy and prognosis
A causal treatment is not known. The life expectancy of the patient is not restricted.
literature
- HR Clouston: THE MAJOR FORMS OF HEREDITARY ECTODERMAL DYSPLASIA: (With an Autopsy and Biopsies on the Anhydrotic Type). In: Canadian Medical Association journal. Vol. 40, No. 1, January 1939, ISSN 0008-4409 , pp. 1-7, PMID 20321205 , PMC 536929 (free full text).
- P. Koch, P. Foss, HP Baum, H. Zaun: Wart-shaped palmoplantar keratoderma as a characteristic feature of hidrotic ectodermal dysplasia of the Clouston type. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 46, No. 4, April 1995, ISSN 0017-8470 , pp. 272-275, PMID 7790195 .
Individual evidence
- ↑ a b c d e Clouston syndrome. In: Orphanet (Rare Disease Database).
- ↑ HR Clouston: A Hereditary Ectodermal Dystrophy. In: Canadian Medical Association journal. Vol. 21, No. 1, July 1929, ISSN 0008-4409 , pp. 18-31, PMID 20317409 , PMC 1710564 (free full text).
- ^ Clouston syndrome. In: Online Mendelian Inheritance in Man . (English)