title: Hay-Wells syndrome in a child with mutation in the TP73L gene.
abstract: 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.
authors.affiliation: Department of Dermatology and Allergy, Charité- Universitätsmedizin Berlin, Germany. natalie.garcia-bartels@charite.de
authors.forename: Natalie
authors.initials: N
authors.lastname: Garcia Bartels
authors.forename: Luitgard M
authors.initials: LM
authors.lastname: Neumann
authors.forename: Anna
authors.initials: A
authors.lastname: Mleczko
authors.forename: Katharina
authors.initials: K
authors.lastname: Rubach
authors.forename: Hartmut
authors.initials: H
authors.lastname: Peters
authors.forename: Rainer
authors.initials: R
authors.lastname: Rossi
authors.forename: Wolfram
authors.initials: W
authors.lastname: Sterry
authors.forename: Ulrike
authors.initials: U
authors.lastname: Blume-Peytavi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002971:Cleft Lip / Q000175:diagnosis* / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins