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.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / epidemiology
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Adolescent
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Adult
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Anodontia / diagnosis*
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Anodontia / epidemiology
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Anodontia / genetics
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Breast / abnormalities*
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Child
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Diagnosis, Differential
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Ectodermal Dysplasia / diagnosis*
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Ectodermal Dysplasia / epidemiology
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Ectodermal Dysplasia / genetics
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Female
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Genetic Predisposition to Disease*
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Humans
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Lacrimal Duct Obstruction / diagnosis*
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Lacrimal Duct Obstruction / epidemiology
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Lacrimal Duct Obstruction / genetics
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Limb Deformities, Congenital / diagnosis*
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Limb Deformities, Congenital / epidemiology
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Limb Deformities, Congenital / genetics
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Mothers
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Mutation
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Nails, Malformed / diagnosis*
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Nails, Malformed / epidemiology
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Nails, Malformed / genetics
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Pedigree*
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Pigmentation Disorders / diagnosis*
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Pigmentation Disorders / epidemiology
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Pigmentation Disorders / genetics
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Prognosis
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Risk Assessment
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Severity of Illness Index
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Siblings
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Transcription Factors / genetics*
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Tumor Suppressor Proteins / genetics*
Substances
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TP63 protein, human
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Transcription Factors
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Tumor Suppressor Proteins