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Hay‐Wells syndrome in a child with mutation in the TP73L gene
Author(s) -
Garcia Bartels Natalie,
Neumann Luitgard M.,
Mleczko Anna,
Rubach Katharina,
Peters Hartmut,
Rossi Rainer,
Sterry Wolfram,
BlumePeytavi Ulrike
Publication year - 2007
Publication title -
jddg: journal der deutschen dermatologischen gesellschaft
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 60
eISSN - 1610-0387
pISSN - 1610-0379
DOI - 10.1111/j.1610-0387.2007.06379.x
Subject(s) - ectodermal dysplasia , medicine , epidermolysis bullosa , dermatology , variable expression , dysplasia , nail (fastener) , pathology , gene , genetics , biology , materials science , metallurgy
Summary 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.