title: Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
abstract: Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP63 gene mutation syndromes, often making an accurate diagnosis difficult. Long-term management and follow-up of the various sequelae of ectodermal dysplasia require an accurate diagnosis. We report a familial case of ADULT syndrome in a daughter, mother, and son and provide a brief review of the clinical characteristics of this syndrome.
authors.affiliation: Division of Dermatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, Illinois.
authors.forename: Adam
authors.initials: A
authors.lastname: Whittington
authors.affiliation: Section of Dermatology, University of Chicago, Chicago, Illinois.
authors.forename: Sarah
authors.initials: S
authors.lastname: Stein
authors.affiliation: Division of Dermatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, Illinois. bmkbell@gmail.com.
authors.forename: Brandi
authors.initials: B
authors.lastname: Kenner-Bell
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology; D000293:Adolescent; D000328:Adult; D000848:Anodontia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D001940:Breast / Q000002:abnormalities*; D002648:Child; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D009035:Mothers; D009154:Mutation; D009264:Nails, Malformed / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D035781:Siblings; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins