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).

Web links

[Orpha-1] Ankyloblepharon - ectodermal defects - cleft lip and palate. In: Orphanet (Rare Disease Database).

[2] 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 .

[3] Hay-Wells syndrome. In: Online Mendelian Inheritance in Man . (English)

[4] 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).

[5] Rapp-Hodgkin syndrome. In: Orphanet (Rare Disease Database).

[6] 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).