ADULT syndrome due to an R243W mutation in TP63.

David R Berk, Nicole L Armstrong, Marwan Shinawi, Alison J Whelan

Departments of Internal Medicine and Pediatrics, Division of Dermatology and Division of Genetics and Genomic Medicine, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO 63110, USA. dberk@dom.wustl.edu

International journal of dermatology 2012 Jun

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Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare, autosomal dominant form of ectodermal dysplasia due to TP63 mutations. ADULT syndrome is much less common than the more classical forms of TP63-associated ectodermal dysplasias, such as ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome and ankyloblepharon-ectodermal defects-cleft lip/pala te syndrome. ADULT syndrome is characterized by ectrodactyly, syndactyly, and excessive freckling, in addition to more typical ectodermal defects, including hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Unlike some of the other TP63-associated ectodermal dysplasias, ADULT syndrome lacks clefting and ankyloblepharon. Here, we report a three-generation family with ADULT syndrome due to an R243W mutation in TP63, a mutation that has previously been described in one patient with ADULT syndrome and eight unrelated patients with EEC syndrome. © 2012 The International Society of Dermatology.

Citation

David R Berk, Nicole L Armstrong, Marwan Shinawi, Alison J Whelan. ADULT syndrome due to an R243W mutation in TP63. International journal of dermatology. 2012 Jun;51(6):693-6