title: ADULT syndrome caused by a mutation previously associated with EEC syndrome.
abstract: Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, dysplastic nails, lacrimal duct atresia, primary hypodontia and early loss of permanent teeth. ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. Until now, only four families and three individuals with ADULT syndrome have been reported in the English literature. We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes.
authors.affiliation: Department of Dermatology, Rambam Health Care Campus, Haifa, Israel. e_avitan@rambam.health.gov.il
authors.forename: Emily
authors.initials: E
authors.lastname: Avitan-Hersh
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D000293:Adolescent; D000848:Anodontia / Q000235:genetics / Q000473:pathology; D001940:Breast / Q000002:abnormalities / Q000473:pathology; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D007585:Jews / Q000235:genetics; D007767:Lacrimal Duct Obstruction / Q000235:genetics / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology; D009264:Nails, Malformed / Q000235:genetics / Q000473:pathology; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins