共 8 条
Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias
被引:6
|作者:
Whittington, Adam
[1
]
Stein, Sarah
[2
]
Kenner-Bell, Brandi
[1
]
机构:
[1] Northwestern Univ, Div Dermatol, Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA
[2] Univ Chicago, Dermatol Sect, Chicago, IL 60637 USA
关键词:
D O I:
10.1111/pde.12938
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
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.
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页码:E322 / E326
页数:5
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