Atrichia With Papular Lesions in Syrian Siblings Exposing Global Diagnostic Challenges in Genetic Alopecia: A Rare Case Report

    Nabeha Haytham Alibrahim, Ayham Qatza, Abdullah Dukhan, Mohammad Almoustafa, Thaer Douri
    TLDR Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
    Atrichia with papular lesions is a rare genetic condition causing irreversible hair loss from infancy, often misdiagnosed due to its similarity to other alopecias. This case report describes a 4-year-old Syrian boy and his younger sister, both with complete hair loss and keratotic papules, linked to family consanguinity. A biopsy showed no mature hair follicles, confirming the diagnosis without genetic testing. The report emphasizes the diagnostic challenges in resource-limited settings and suggests a clinical framework for early identification in high-risk groups, such as consanguineous families, to improve management and provide necessary psychological support.
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