BH15 Nonsyndromic Hypotrichosis: A Rare Case of Congenital Hypotrichosis 15 and Management with Minoxidil

    Saman Zaman, Nicola Clayton, Bisola Laguda, Jan M. Cobben, J. C. Simpson
    TLDR Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
    This document discusses a rare case of nonsyndromic congenital hypotrichosis 15, caused by a mutation in the C3orf52 gene, with only nine cases reported since 2020. A 2-year-old girl with this condition showed some improvement in hair length with topical minoxidil treatment, highlighting its potential effectiveness. The condition is characterized by sparse, wiry hair and is not associated with other systemic issues. The study emphasizes the role of minoxidil in promoting hair growth by affecting cell growth, anagen duration, and follicular size. The genetic mutation involves a homozygous frameshift deletion, leading to a lack of protein expression, which is consistent with the rarity of the condition.
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