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.
    The document discusses ectodermal dysplasia (ED), a group of hereditary disorders affecting 1 in 10,000 to 1 in 100,000 live births, with a focus on a rare cluster of four patients. The most common form is hypohidrotic ED, often X-linked recessive, involving the EDA1 gene. The cases include two brothers with hypotrichosis, dental anomalies, and heat intolerance; a 10-year-old boy with similar symptoms; and an 11-year-old with Papillon-Lefevre syndrome (PLS), characterized by palmoplantar keratoderma and periodontitis. Diagnosis relies on clinical and radiographic features, with treatment focusing on symptom management. The report emphasizes the importance of early diagnosis and rehabilitation to improve patient quality of life.
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