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

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.