Premium
Acro‐Dermato‐Ungual‐Lacrimal‐Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias
Author(s) -
Whittington Adam,
Stein Sarah,
KennerBell Brandi
Publication year - 2016
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12938
Subject(s) - ectodermal dysplasia , medicine , dermatology , dysplasia , locus (genetics) , pathology , genetics , gene , biology
Acro‐dermato‐ungual‐lacrimal‐tooth ( ADULT ) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP 63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP 63 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.