Acne-Associated Syndromes: Models for Better Understanding of Acne Pathogenesis

The document from 2010 discusses the link between acne and various syndromes, with a focus on Apert syndrome, where patients experience early-onset, moderate-to-severe acne. It identifies two mutations in the FGFR2 gene that lead to increased signalling activity, which may result in a deficiency of the transcription factor FoxO1, believed to be crucial in acne development. The study suggests that the acne seen in Apert syndrome is due to androgen-dependent up-regulation of FGF synthesis activating the mutated receptors. Isotretinoin treatment has been effective in restoring FoxO1 levels and managing acne in these patients, sometimes requiring a life-long low-dose regimen. Additionally, dietary modifications to avoid insulinotropic foods may help. The document emphasizes the complexity of acne and the need for further research to understand its pathogenesis and improve treatments.