Ectodermal Dysplasia: Variable Expressions

    November 2025 in “ Indian Journal of Dermatology ”
    Soumi Biswas, Arun Achar
    TLDR Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
    Ectodermal dysplasia (ED) is a rare hereditary disorder affecting 1 in 10,000 to 1 in 100,000 live births, with hypohidrotic ED being the most common variant. This report presents a rare cluster of four patients with ED, highlighting the variability in clinical manifestations. The cases include two brothers with hypotrichosis, reduced body hair, and dental abnormalities; a 10-year-old boy with sparse hair and peg-shaped teeth; and an 11-year-old boy diagnosed with Papillon-Lefevre syndrome (PLS), a rare ED type characterized by palmoplantar keratoderma and periodontitis. The study emphasizes the importance of early diagnosis and multidisciplinary management to improve patient quality of life.
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