| Literature DB >> 27469932 |
Adam Whittington1, Sarah Stein2, Brandi Kenner-Bell3.
Abstract
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.Entities:
Mesh:
Substances:
Year: 2016 PMID: 27469932 DOI: 10.1111/pde.12938
Source DB: PubMed Journal: Pediatr Dermatol ISSN: 0736-8046 Impact factor: 1.588