Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias

Adam Whittington, Sarah Stein, Brandi M Kenner-Bell*

*Corresponding author for this work

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)e322-e326
JournalPediatric dermatology
Volume33
Issue number5
DOIs
StatePublished - Sep 1 2016

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Ectodermal Dysplasia
Mutation
Genes
Propping Zerres syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Cite this

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title = "Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias",
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.",
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Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome : An Uncommon Member of the Ectodermal Dysplasias. / Whittington, Adam; Stein, Sarah; Kenner-Bell, Brandi M.

In: Pediatric dermatology, Vol. 33, No. 5, 01.09.2016, p. e322-e326.

Research output: Contribution to journalArticle

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