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Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth
Author(s) -
Urban J.,
Qi L.,
Zhao H.,
Rybak I.,
Rauen K.A.,
Kiuru M.
Publication year - 2020
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.16082
Subject(s) - scalp , hair loss , medicine , hair growth , dermatology , costello syndrome , hair disease , ectodermal dysplasia , hair follicle , hair shaft , cabello , pathology , endocrinology , physiology , cancer , colorectal cancer , kras
Background Abnormal hair growth is a defining feature of RAS opathies, syndromes caused by germline mutations in the RAS pathway. However, detailed hair manifestations and the mechanisms of altered hair growth in RAS opathies are poorly delineated. Objectives To identify distinguishing clinical features and investigate how the RAS pathway influences hair growth by performing a systematic and detailed side‐by‐side comparison of hair manifestations in cardio‐facio‐cutaneous syndrome ( CFCS ) and Costello syndrome ( CS ), two RAS opathies caused by mutations in the downstream and upstream elements of the RAS pathway, respectively. Methods Sixteen individuals with CFCS and 23 individuals with CS were enrolled. Mutation data were recorded. Scalp hair, eyebrows and eyelashes of individuals with CFCS or CS were examined for texture, colour, density and morphology. Scalp hairs were examined by light microscopy. Results While both syndromes displayed abnormal hair, striking differences were observed, including darker and thicker scalp hair and sparse eyebrows and eyelashes in CFCS . By contrast, synophrys, trichomegaly and abnormalities of the scalp hair shafts were observed in CS . Possible correlation with straight hair and genotype was observed in CS . Conclusion The results emphasize the role of the RAS pathway in hair growth, improve accuracy of clinical diagnosis of CFCS and CS and provide a foundation for identification of therapeutic targets.