Ambras syndrome

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Classification according to ICD-10
Q84.2 Other congenital malformations of the hair
ICD-10 online (WHO version 2019)

The Ambras syndrome is a very rare congenital form of congenital generalized hypertrichosis .

Synonyms are: Latin Hypertrichosis universalis congenita ; Hypertrichosis universalis congenita, Ambras type; Congenital generalized hypertrichosis type Ambras

The name "Ambras Syndrome" was proposed in 1993 by the Munich pediatricians FAM Baumeister, J. Egger, MT Schildhauer and S. Stengel-Rutkowski.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 50 people have been reported. The inheritance is autosomal dominant .

root cause

The disease is based on mutations on chromosome 8 locus q22.

Clinical manifestations

Clinical criteria are:

  • Manifestation at birth
  • Downy hair all over the body, especially on the face, ears and shoulders. Palms, soles and mucous membranes are spared

There can also be facial dysmorphisms such as triangular, roughly structured face, bulbous nose tip, long eyelid slits and disorders of tooth development.

literature

  • VK Reddy Kundoor, KN Maloth, S. Kesidi, T. Moni: Ambras Syndrome with Gingival Hyperplasia: A Rare Entity. In: International journal of trichology. Volume 8, number 2, 2016 Apr-Jun, pp. 81-83, doi : 10.4103 / 0974-7753.188036 , PMID 27601862 , PMC 4989393 (free full text).
  • A. Ishita, GP Sujatha, GV Pramod, L. Ashok: Ambras syndrome: A rare case report. In: Journal of the Indian Society of Pedodontics and Preventive Dentistry. Volume 34, number 2, 2016 Apr-Jun, pp. 189-191, doi : 10.4103 / 0970-4388.180452 , PMID 27080973 .
  • W. Chen, J. Ring, R. Happle: Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome". In: European journal of dermatology: EJD. Volume 25, number 3, 2015 May-Jun, pp. 223-227, doi : 10.1684 / ejd.2015.2529 , PMID 25961852 .
  • M. Boui, M. Ghfir, O. Sedrati: Hypertrichose ciliaire et dysmorphie au cours d'une hypertrichose universal congénitale: syndrome d'Ambras? In: Annales de dermatologie et de venereologie. Volume 136, Number 5, May 2009, pp. 481-482, doi : 10.1016 / j.annder.2008.11.019 , PMID 19442813 .

Individual evidence

  1. ↑ Encyclopedia Dermatology
  2. ↑ a b c Congenital generalized hypertrichosis type Ambras. In: Orphanet (Rare Disease Database).
  3. ↑ FA Baumeister, J. Egger, MT Schildhauer, S. Stengel-Rutkowski: Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22) In: Clinical genetics. Volume 44, Number 3, September 1993, pp. 121-128, PMID 8275569 (review).
  4. ↑ Hypertrichosis universalis congenita, Ambras type.  In: Online Mendelian Inheritance in Man . (English)

Web links