Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome

    May 2022 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Isabelle Sahut‐Barnola, Anne‐Marie Lefrançois‐Martinez, D. Dufour, B O T T O Jean-Marie, Crystal Kamilaris, Fabio R. Faucz, Constantine A. Stratakis, Pierre Val, Antoine Martinez
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    TLDR Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
    The study "Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome" investigates the origin of skin pigmentation abnormalities in Carney Complex Syndrome (CNC), a rare genetic disorder. The research found that the invalidation of the Prkar1a gene in a subset of dermal fibroblasts leads to the expression of promelanogenic factors HGF and EDN3, which increases the number of dermal melanocytes and/or stimulates melanogenesis in lentigines-prone areas. This process is linked to the formation of skin lesions in CNC. The study also found that approximately 44% of AdKO2.0 mice developed large skin tumors localized either on the thighs or on the shoulder joint, suggesting a possible continuity between these pigmented lesions and myxoma formation. The findings were supported by the analysis of skin samples from patients with CNC, which showed high levels of HGF in pigmented skin lesions.
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