Cole disease

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Classification according to ICD-10
Q82.8 Other specified congenital skin malformations
ICD-10 online (WHO version 2019)

The Cole's disease is one of the very rare congenital diseases with point keratoderma , a keratinization concerned the skin ( hyperkeratosis ) on the palms and soles.

Synonyms are: Cole disease ( COLED ); english GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION

The name refers to the author of the first description from 1976, Lonnie A. Cole .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on mutations in the ENPP1 gene at gene location 6q23.2.

Individual evidence

  1. ↑ a b Cole's disease. In: Orphanet (Rare Disease Database).
  2. ↑ LA Cole: Hypopigmentation with punctate keratosis of the palms and soles. In: Archives of Dermatology . Vol. 112, No. 7, July 1976, pp. 998-100, PMID 132904 .
  3. ^ Cole disease.  In: Online Mendelian Inheritance in Man . (English).

Web links