|
Acro–dermato–ungual–lacrimal–tooth (ADULT) syndrome is a rare genetic disease.〔Acro-. 2014. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?q=acro&submit.x=0&submit.y=0 Dermo-. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?id=D5151600 Lacrimcal. 2014. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?q=lacrimal&submit.x=0&submit.y=0 Ungual. 2014. In ahdictionary.com. Retrieved Feb 7, 2014, from http://www.ahdictionary.com/word/search.html?q=ungual&submit.x=0&submit.y=0 〕 ADULT syndrome is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat glands, and extremities.〔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), 693-696. doi:10.1111/j.1365-4632.2011.05375.x〕 The syndrome arises from a mutation in the TP63 gene.〔Chan, I., Harper, J. I., Mellerio, J. E., & McGrath, J. A. (2004). ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene Wiley-Blackwell. doi:10.1111/j.1365-2230.2004.01643.x〕 This disease was previously thought to be a form of ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC), but was classified as a different disease in 1993 by Propping and Zerres.〔Propping, P., Zerres, K. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am. J. Med. Genet. 45: 642-648, 1993. (8456838, related citations )〕 == Symptoms == ADULT syndrome features include ectrodactyly, syndactyly, excessive freckling, lacrimal duct anomalies, dysplastic nails, hypodontia, hypoplastic breasts and nipples, hypotrichosis, hypohidrosis, broad nasal bridge, midfacial hypoplasia, exfoliative dermatitis, and xerosis.〔Avitan-Hersh, E., Indelman, M., Bergman, R., & Sprecher, E. (2010). ADULT syndrome caused by a mutation previously associated with EEC syndrome Wiley-Blackwell. doi:10.1111/j.1525-1470.2010.01131.x〕 The lack of facial clefting and ankyloblepharon are important because they exist in ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC) but not in ADULT syndrome. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Acro–dermato–ungual–lacrimal–tooth syndrome」の詳細全文を読む スポンサード リンク
|