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.
299 citations,
January 2018 in “Journal of Clinical Investigation” Different types of fibroblasts play various roles in diseases and healing, and more research on them could improve treatments.
115 citations,
December 2017 in “Wiley Interdisciplinary Reviews-Developmental Biology” Skin cells called dermal fibroblasts are important for skin growth, hair growth, and wound healing.
100 citations,
September 2017 in “Molecular and Cellular Endocrinology” Male hormones and their receptors play a key role in hair loss and skin health, with potential new treatments being explored.
14 citations,
November 2013 in “PloS one” HGF/SF increases skin melanocytes but doesn't change melanin type or amount.
9 citations,
September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
81 citations,
September 2009 in “Birth defects research” Different body areas in mice produce different hair types due to interactions between skin layers.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
