title: Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.
abstract: The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.
authors: Department of Dermatology, Eberhard Karls University, Liebermeisterstrasse 25, D-72076 Tübingen, Germany.
authors: Björn
authors: B
authors: Knaudt
authors: Thomas
authors: T
authors: Volz
authors: Markus
authors: M
authors: Krug
authors: Walter
authors: W
authors: Burgdorf
authors: Martin
authors: M
authors: Röcken
authors: Mark
authors: M
authors: Berneburg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis*; D002972:Cleft Palate / Q000175:diagnosis*; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed; D055815:Young Adult