Hay-Wells Syndrome
Classification according to ICD-10 | |
---|---|
Q82.4 | Ectodermal dysplasia (anhidrotic) |
ICD-10 online (WHO version 2019) |
The Hay-Wells syndrome is a very rare congenital disease with a combination of bonded eyelid after birth ( A nkyloblepharon), E ktodermale defects and cleft lip and palate ( C left), hence the acronym AEC syndrome .
The name refers to the first author of the first description from 1976 by RJ Hay and RS Wells .
distribution
The frequency is given as less than 1 in 1,000,000, so far fewer than 20 patients have been described. Inheritance is mostly autosomal dominant , autosomal - recessive should also be possible.
root cause
The disease is based on mutations in the TP63 gene at gene location 3q28.
Clinical manifestations
Clinical criteria are:
- Wiry, sparse hair, infections of the scalp
- Nail dystrophy
- Hypohidrosis
- Ankyloblepharon with string-like adhesions
- Hypodontia
- Hypoplasia of the upper jaw and cleft lip and palate
Differential diagnosis
There are other syndromes with ectodermal dysplasia, in particular the EEC syndrome .
history
Formerly that was Rapp-Hodgkin syndrome considered a separate syndrome, now are both considered a disease. This name refers to the authors of the description from 1968 by the American paediatricians Robert S. Rapp and William E. Hodgkin .
literature
- VM Tonolli, HO Stolf, CS Tonello, RB Pires, LP Abbade: Syndrome in question. Hay-Wells syndrome. In: Anais Brasileiros de Dermatologia . Vol. 89, No. 2, 2014 Mar-Apr, pp. 363-364, PMID 24770526 , PMC 4008080 (free full text).
- NB Nagaveni, KV Umashankara: Hay-Wells syndrome of ectodermal dysplasia: A rare autosomal dominant disorder. In: Indian journal of human genetics. Vol. 17, No. 3, September 2011, pp. 245-246, doi: 10.4103 / 0971-6866.92084 , PMID 22346004 , PMC 3277001 (free full text).
Individual evidence
- ↑ a b c d Ankyloblepharon - ectodermal defects - cleft lip and palate. In: Orphanet (Rare Disease Database).
- ^ RJ Hay, RS Wells: The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. In: British Journal of Dermatology . Vol. 94, No. 3, March 1976, pp. 287-289, PMID 946410 .
- ↑ Hay-Wells syndrome. In: Online Mendelian Inheritance in Man . (English)
- Jump up ↑ SE Clements, T. Techanukul, ST Holden, JE Mellerio, H. Dorkins, F. Escande, JA McGrath: Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. In: The British journal of dermatology. Vol. 163, No. 3, September 2010, pp. 624-629, doi: 10.1111 / j.1365-2133.2010.09859.x , PMID 20491771 (review).
- ^ Rapp-Hodgkin syndrome. In: Orphanet (Rare Disease Database).
- ↑ RS Rapp, WE Hodgkin: Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies. In: Journal of medical genetics. Vol. 5, No. 4, December 1968, pp. 269-272, PMID 5713637 , PMC 1468665 (free full text).