Salamon Syndrome

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Classification according to ICD-10
Q84.1 Congenital morphological disorders of hair, not elsewhere classified
ICD-10 online (WHO version 2019)

The Salamon syndrome is a very rare congenital disease with the main features of wool hair, Hypotrichose , everted lower lip, prominent ears.

The name refers to the first author of the first description from 1963 by the German doctor T. Salamon.

distribution

The frequency is unknown; only one family has been reported to date. Inheritance is autosomal - recessive .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

  • Wool hair
  • Hypotrichosis
  • everted lower lip
  • Tooth abnormalities such as microdontics
  • protruding ears

Differential diagnosis

Different woolen hair syndromes must be distinguished:

  • Familial woolly hair syndrome
  • Hypotrochosis simplex

Individual evidence

  1. ↑ Woolly hair - hypotrichosis - everted lower lip - protruding ears. In: Orphanet (Rare Disease Database).
  2. ↑ a b c T. Salamon: About a family with recessive curly hair, hypotrichosis and other anomalies. In: The dermatologist; Journal of Dermatology, Venereology, and Allied Fields. Volume 14, December 1963, pp. 540-544, PMID 14113527 .
  3. ↑ Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ wool hair. In: Orphanet (Rare Disease Database).
  5. ↑ Woolly hair, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Hypotrichosis simplex. In: Orphanet (Rare Disease Database).
  7. ^ Hypotrichosis 8th  In: Online Mendelian Inheritance in Man . (English)