Comparison of Hair Manifestations in Cardio-Facio-Cutaneous and Costello Syndromes Highlights the Influence of the RAS Pathway on Hair Growth

    J. Urban, Lihong Qi, Hangyue Zhao, Iryna Rybak, Katherine A. Rauen, Maija Kiuru
    TLDR The RAS pathway affects hair growth differently in CFCS and CS.
    The study compared hair manifestations in 16 individuals with cardio-facio-cutaneous syndrome (CFCS) and 23 individuals with Costello syndrome (CS), both RASopathies caused by mutations in the RAS pathway. It found that while both syndromes exhibited abnormal hair growth, CFCS was characterized by darker, thicker scalp hair and sparse eyebrows and eyelashes, whereas CS showed synophrys, trichomegaly, and scalp hair shaft abnormalities. The findings highlighted the influence of the RAS pathway on hair growth and aimed to improve clinical diagnosis and identify potential therapeutic targets for these conditions.
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