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ADULT syndrome due to an R243W mutation in TP63
Author(s) -
Berk David R.,
Armstrong Nicole L.,
Shinawi Marwan,
Whelan Alison J.
Publication year - 2012
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2011.05375.x
Subject(s) - ectodermal dysplasia , ectrodactyly , medicine , syndactyly , hypodontia , hypotrichosis , dermatology , dysplasia , anatomy , pathology , genetics , dentistry , biology , gene
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/palate 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.