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
    New to Minoxidil? There is a guide in the encyclopedia. Read the guide →
    Studysummary This case report describes a girl diagnosed with ADULT syndrome, highlighting its rarity, varied presentation, and the importance of early diagnosis to prevent unnecessary stress and medical expenses. Our plain-language summary of this paper — not a Tressless recommendation.
    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.
    Discuss this study in the Community →