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ADULT syndrome due to an R243W mutation in TP63.
Int J Dermatol. 2012 Jun; 51(6):693-6.IJ

Abstract

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.

Authors+Show Affiliations

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.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22607287

Citation

Berk, David R., et al. "ADULT Syndrome Due to an R243W Mutation in TP63." International Journal of Dermatology, vol. 51, no. 6, 2012, pp. 693-6.
Berk DR, Armstrong NL, Shinawi M, et al. ADULT syndrome due to an R243W mutation in TP63. Int J Dermatol. 2012;51(6):693-6.
Berk, D. R., Armstrong, N. L., Shinawi, M., & Whelan, A. J. (2012). ADULT syndrome due to an R243W mutation in TP63. International Journal of Dermatology, 51(6), 693-6. https://doi.org/10.1111/j.1365-4632.2011.05375.x
Berk DR, et al. ADULT Syndrome Due to an R243W Mutation in TP63. Int J Dermatol. 2012;51(6):693-6. PubMed PMID: 22607287.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - ADULT syndrome due to an R243W mutation in TP63. AU - Berk,David R, AU - Armstrong,Nicole L, AU - Shinawi,Marwan, AU - Whelan,Alison J, PY - 2012/5/22/entrez PY - 2012/5/23/pubmed PY - 2012/9/26/medline SP - 693 EP - 6 JF - International journal of dermatology JO - Int J Dermatol VL - 51 IS - 6 N2 - 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. SN - 1365-4632 UR - https://wwww.unboundmedicine.com/medline/citation/22607287/ADULT_syndrome_due_to_an_R243W_mutation_in_TP63_ L2 - https://doi.org/10.1111/j.1365-4632.2011.05375.x DB - PRIME DP - Unbound Medicine ER -