In:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Wiley, Vol. 5, No. 10 ( 2007-10), p. 919-923
Kurzfassung:
Hay‐Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three‐month‐old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C 〉 T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp‐Hodgkin syndrome, Bowen‐Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.
Materialart:
Online-Ressource
ISSN:
1610-0379
,
1610-0387
DOI:
10.1111/ddg.2007.5.issue-10
DOI:
10.1111/j.1610-0387.2007.06379.x
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
2007
ZDB Id:
2099463-1
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