Nevus comedonicus syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q82.5 Congenital non-neoplastic nevus
ICD-10 online (WHO version 2019)

The nevus comedonicus syndrome is a very rare special form of the epidermal nevus syndrome . This is a familial accumulation of comedones - nevi in combination with involvement of internal organs such as the central nervous system , skeleton , eyes and nerves .

Synonyms are: English Nevus comedonicus, somatic

The first description comes from 1978 by the American dermatologist Peter B. Engber and colleagues.

distribution

The frequency is given as 1 in 45,000 to 1 in 100,000.

root cause

Of the disease are - at least partly - mutations in NEK9 - gene on chromosome 14 locus q24.3 based encoding a tyrosine kinase receptor.

Clinical manifestations

Clinical criteria are:

  • Preferably the face and neck are affected
  • Manifestation usually within the first decade of life
  • Komedonennaevi with enlarged, blocked skin follicles, arranged like a honeycomb

literature

  • T. Ito, Y. Mitamura, Y. Tsuji, K. Harada, K. Urabe: Bilateral nevus comedonicus syndrome. In: Yonago acta medica. Vol. 56, No. 2, June 2013, pp. 59-61, PMID 24031154 , PMC 3771205 (free full text).
  • S. Pavithra, H. Pai, H. Mallya, GS Pai: Nevus comedonicus syndrome. In: Indian journal of dermatology. Vol. 56, No. 6, November 2011, pp. 771-772, doi: 10.4103 / 0019-5154.91853 , PMID 22345795 , PMC 3276921 (free full text).
  • F. Kaliyadan, S. Nampoothiri, V. Sunitha, VE Kuruvilla: Nevus comedonicus syndrome – nevus comedonicus associated with ipsilateral polysyndactyly and bilateral oligodontia. In: Pediatric dermatology. Vol. 27, No. 4, 2010 Jul-Aug, pp. 377-379, doi: 10.1111 / j.1525-1470.2010.01170.x , PMID 20653857 .

Individual evidence

  1. ↑ Encyclopedia Dermatology
  2. ↑ nevus syndrome comedonicus. In: Orphanet (Rare Disease Database).
  3. ↑ P. Yadav, V. Mendiratta, S. Rana, R. Chander: Nevus Syndrome comedonicus. In: Indian journal of dermatology. Vol. 60, No. 4, 2015 Jul-Aug, p. 421, doi: 10.4103 / 0019-5154.160523 , PMID 26288437 , PMC 4533567 (free full text).
  4. ↑ PB Engber: The nevus syndrome comedonicus: a case report with emphasis on associated internal manifestations. In: International journal of dermatology. Vol. 17, No. 9, November 1978, pp. 745-749, PMID 730460 .
  5. Jump up ↑ G. Tchernev, J. Ananiev, K. Semkova, LA Dourmishev, J. Schönlebe, U. Wollina: Nevus comedonicus: an updated review. In: Dermatology and therapy. Vol. 3, No. 1, June 2013, pp. 33-40, doi: 10.1007 / s13555-013-0027-9 , PMID 23888253 , PMC 3680637 (free full text).
  6. ↑ a b Nevus comedonicus, somatic.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ JL Levinsohn, JL Sugarman, JM McNiff, RJ Antaya, KA Ch: Somatic Mutations in NEK9 Cause Nevus Comedonicus. In: American Journal of Human Genetics . Vol. 98, No. 5, May 2016, pp. 1030-1037, doi: 10.1016 / j.ajhg.2016.03.019 , PMID 27153399 , PMC 4863661 (free full text).