Acne Syndromes and Mosaicism

    November 2021 in “ Biomedicines
    Sumer Baroud, Jim Wu, Christos C. Zouboulis
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    TLDR Understanding how acne develops in different diseases could lead to new treatments.
    The document discusses the concept of abnormal mosaicism and its role in acne, a chronic illness characterized by inflammatory changes in the pilosebaceous units. It highlights several disorders associated with acne, including congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome. The document also discusses acne syndromes and acneiform mosaicism, with mosaic germline mutations in the FGFR2 gene being associated with Apert syndrome and nevus comedonicus. The role of FGF7 and FGF10, ligands for FGFR2b, in promoting hyperkeratinization and fatty-acid synthesis in sebocytes, which can lead to acne, is also discussed. The document also highlights various systemic endocrine/immunological disorders and syndromes, such as congenital adrenal hyperplasia (CAH), PCOS, and seborrhea-acne-hirsutism-androgenetic alopecia (SAHA) syndrome, which have been associated with acne. The document also discusses the role of acne as a skin manifestation in various diseases and syndromes, including endocrine/immunological syndromes, autoinflammatory syndromes, and certain mosaicisms. It concludes that studying the common mechanisms of acne induction in these diseases and syndromes might contribute to the development of novel therapeutic regimens.
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