Ichthyosis hystrix Curth-Macklin

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Classification according to ICD-10
Q80.8 Other congenital ichthyosis
ICD-10 online (WHO version 2019)

The ichthyosis hystrix Curth-Macklin (IHCM) is a form of very rare, the ichthyosis counting congenital skin disease ichthyosis hystrix with the main characteristics of a distinct brown to gray hyperkeratosis with wart or spine-like plate training mainly at the extremities .

Synonyms are: English Disorder of Cornification 8, Curth-Macklin Type; DOC 8, Curth-Macklin Type

The name refers to the authors of the first description from 1954 by the German-American dermatologist Helen Ollendorff Curth (1899–1982) and the American human geneticist Madge Thurlow Macklin (1893–1962).

distribution

The frequency is given as less than 1 in 1,000,000, so far 6 families have been reported. The inheritance is autosomal dominant .

root cause

The disease are mutations in KRT1 - gene on chromosome 12 locus q13.13 based coding for keratin 1 coded.

Clinical manifestations

Clinical criteria are:

  • Normal skin at birth
  • Pronounced hyperkeratosis beginning in early childhood, yellow-brownish or gray with cobblestone-like, thorny or warty skin thickenings
  • Distribution pattern mostly diffuse, emphasized on the extensor sides of the extremities
  • As the disease progressed, it increased with cracks in the skin and bleeding
  • Tendency to infection
  • No erythroderma

Possible consequences can be contractures , gangrene and loss of fingers or toes, as well as nail dystrophy .

Differential diagnosis

The following are to be distinguished:

literature

Individual evidence

  1. ↑ a b c d Ichthyosis hystrix Curth-Macklin. In: Orphanet (Rare Disease Database).
  2. ↑ Encyclopedia Dermatology
  3. ^ HO Curth, MT Macklin: The genetic basis of various types of ichthyosis in a family group. In: American Journal of Human Genetics . Vol. 6, No. 4, December 1954, pp. 371-382, PMID 14349943 , PMC 1716585 (free full text).
  4. ^ WH Burgdorf, A. Scholz: Helen Ollendorff Curth and William Curth: from Breslau and Berlin to Bar Harbor. In: Journal of the American Academy of Dermatology. Vol. 51, No. 1, July 2004, pp. 84-89, doi : 10.1016 / j.jaad.2003.12.035 , PMID 15243529 .
  5. ↑ Ichthyosis hystrix, Curth-Macklin type.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ KID syndrome. In: Orphanet (Rare Disease Database).

Web links