Clouston Syndrome

Classification according to ICD-10
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

1. ↑ ^{a b c d e} Clouston syndrome. In: Orphanet (Rare Disease Database).
2. ↑ 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).
3. ^ Clouston syndrome.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !