Literature DB >> 27469932

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

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.
© 2016 Wiley Periodicals, Inc.

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Year:  2016        PMID: 27469932     DOI: 10.1111/pde.12938

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN: 0736-8046            Impact factor:   1.588


  1 in total

1.  ADULT (acro-dermato-ungual-lacrimal-tooth) Syndrome: A Case Report from India.

Authors:  Muhammed T Razmi; Tarun Narang; Sanjeev Handa
Journal:  Indian Dermatol Online J       Date:  2018 May-Jun
  1 in total

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