Steatocystoma multiplex

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Classification according to ICD-10
L72.2 Steatocystoma multiplex
ICD-10 online (WHO version 2019)
Steatocystoma multiplex.jpg

The Steatocystoma multiplex is a rare congenital skin disease ( genodermatosis ) with numerous filled with sebum skin cysts in the region of the sternum and the upper part of the back, in the armpits, the upper arms and thighs.

Synonyms are: steatocystoma multiplex; Sebocystomatosis; Sebum retention cysts; Sebocystomatosis Günther; English SEBACEOUS CYSTS, MULTIPLE

It was first described in 1873 by the dermatologist W. Allan Jamieson .

distribution

The frequency is not known, more than 30 patients have been described to date, the inheritance is presumably autosomal dominant .

root cause

The disease are mutations in KRT17 - gene at the location 17q21.1 basis, which encodes keratin 17th However, most diseases occur sporadically.

There is an association with eruptive vellus hair .

Identical mutations are also found in Pachyonychia congenita type II, so that the independence of the disease is being discussed.

Clinical manifestations

Symptoms of sebocystomatosis usually appear in the first or second decade of life.

If chronic inflammation occurs as a complication , one speaks of a steatocystoma multiplex conglobatum .

Differential diagnosis

The following must be distinguished from the differential diagnosis:

history

Described by Pringle in 1899 as "steatocystoma multiplex" and later by Günther as "Sebocystomatosis"

literature

  • AV Beyer, D. Vossmann: Steatocystoma multiplex. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 47, No. 6, June 1996, pp. 469-471, PMID 8767665 .
  • Q. Liu, W. Wu, J. Lu, P. Wang, F. Qiao: Steatocystoma multiplex is associated with the R94C mutation in the KRT17 gene. In: Molecular medicine reports. Vol. 12, No. 4, October 2015, pp. 5072–5076, doi: 10.3892 / mmr.2015.4063 , PMID 26165312 , PMC 4581757 (free full text).
  • HT Kamra, PA Gadgil, AG Ovhal, RR Narkhede: Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature. In: Journal of clinical and diagnostic research: JCDR. Vol. 7, No. 1, January 2013, pp. 166-168, doi: 10.7860 / JCDR / 2012 / 4691.2698 , PMID 23449619 , PMC 3576779 (free full text).

Individual evidence

  1. ↑ a b c Sebokystomatose. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d Encyclopedia Dermatology
  3. ↑ WA Jamieson: Case of numerous cutaneous cysts scattered over the body. In: Edinbourgh Medical Journal , Vol. 19, 1873, pp. 223-5.
  4. ↑ Steatocystoma multiplex.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ emedicine
  6. ↑ R. Klaber: Sebocystomatosis (Gunther). In: Proceedings of the Royal Society of Medicine. Vol. 30, No. 8, June 1937, pp. 976-977, PMID 19991165 , PMC 2076320 (free full text).

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