ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome: A Case Report from India

    January 2018 in “ Indian dermatology online journal ”
    Muhammed T Razmi, Tarun Narang, Sanjeev Handa
    TLDR Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
    A 15-year-old girl in India was diagnosed with ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome, a rare autosomal dominant ectodermal dysplasia caused by a TP63 gene mutation. She exhibited symptoms including frontoparietal alopecia, sparse hair, excessive freckling, dysplastic nails, decayed teeth, and hypoplastic breasts. Despite treatment with topical minoxidil, there was no hair regrowth. The case highlights the importance of early diagnosis to alleviate parental stress and unnecessary medical expenses. Genetic testing was recommended but declined by the parents. The report emphasizes the need for awareness among dermatologists and public education on genetic evaluations.
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