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
    Studysummary This case report describes a 4-year-old patient with complete hair loss and keratotic papules, leading to a diagnosis of atrichia with papular lesions, underscoring diagnostic challenges in resource-limited settings and suggesting a clinical framework for identifying this condition, especially in consanguineous families. Our plain-language summary of this paper — not a Tressless recommendation.
    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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