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Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
Pediatr Dermatol. 2016 Sep; 33(5):e322-6.PD

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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Publisher Full Text (DOI)

Authors+Show Affiliations

Whittington A
Division of Dermatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, Illinois.
Stein S
Section of Dermatology, University of Chicago, Chicago, Illinois.
Kenner-Bell B
Division of Dermatology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, Illinois. bmkbell@gmail.com.

MeSH

Abnormalities, MultipleAdolescentAdultAnodontiaBreastChildDiagnosis, DifferentialEctodermal DysplasiaFemaleGenetic Predisposition to DiseaseHumansLacrimal Duct ObstructionLimb Deformities, CongenitalMothersMutationNails, MalformedPedigreePigmentation DisordersPrognosisRisk AssessmentSeverity of Illness IndexSiblingsTranscription FactorsTumor Suppressor Proteins

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

27469932

Citation

Whittington, Adam, et al. "Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: an Uncommon Member of the Ectodermal Dysplasias." Pediatric Dermatology, vol. 33, no. 5, 2016, pp. e322-6.
Whittington A, Stein S, Kenner-Bell B. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. Pediatr Dermatol. 2016;33(5):e322-6.
Whittington, A., Stein, S., & Kenner-Bell, B. (2016). Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. Pediatric Dermatology, 33(5), e322-6. https://doi.org/10.1111/pde.12938
Whittington A, Stein S, Kenner-Bell B. Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: an Uncommon Member of the Ectodermal Dysplasias. Pediatr Dermatol. 2016;33(5):e322-6. PubMed PMID: 27469932.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias. AU - Whittington,Adam, AU - Stein,Sarah, AU - Kenner-Bell,Brandi, Y1 - 2016/07/28/ PY - 2016/7/30/entrez PY - 2016/7/30/pubmed PY - 2017/4/1/medline SP - e322 EP - 6 JF - Pediatric dermatology JO - Pediatr Dermatol VL - 33 IS - 5 N2 - 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. SN - 1525-1470 UR - https://wwww.unboundmedicine.com/medline/citation/27469932/Acro_Dermato_Ungual_Lacrimal_Tooth_Syndrome:_An_Uncommon_Member_of_the_Ectodermal_Dysplasias_ DB - PRIME DP - Unbound Medicine ER -