Scalp-ear-nipple syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The scalp-ear-nipple syndrome is a very rare congenital disease consisting of a combination of hairless areas on the scalp, protruding ears with almost completely missing auricles, and a lack of mammary glands on both sides.

Synonyms are: Finlay syndrome , Finlay-Markes syndrome, engl. Scalp-ear-nipple syndrome, (SEN), Finlay-Marks syndrome

The names refer to the authors of the 1978 original publication by AY Finlay and R. Marks .

distribution

The frequency is given as less than 1 in 1,000,000, so far 30 cases have been described. The inheritance is autosomal dominant .

root cause

The disease is caused by mutations in the KCTD1 gene at location 18q11.2.

Clinical manifestations

Diagnostic criteria are:

  • Circumscribed alopecia of the head with inflammation detectable at birth that heals during childhood
  • Auricular malformation with subtotal auricular hypoplasia and protruding ears
  • Amasty on both sides

In addition, malformations of the kidneys and urinary tract and a cataract can occur.

literature

  • P. Naik, P. Kini, D. Chopra, Y. Gupta: Finlay-Marks syndrome: report of two siblings and review of literature. In: American journal of medical genetics. Part A. Vol. 158A, No. 7, July 2012, pp. 1696-1701, ISSN  1552-4833 . doi : 10.1002 / ajmg.a.35389 . PMID 22639454 . (Review).

Individual evidence

  1. ↑ a b c Scalp-ear-nipple syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Scalp-ear-nipple syndrome.  In: Online Mendelian Inheritance in Man . (English)
  3. ^ AY Finlay, R. Marks: An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples. In: The British journal of dermatology. Vol. 99, No. 4, October 1978, pp. 423-430, ISSN  0007-0963 . PMID 708615 .

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