Dermatological Phenotype in Costello Syndrome: Consequences of Ras Dysregulation in Development

Abstract

Background:  The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction.


Objective:  To quantify the specific cutaneous phenotype observed in 46 individuals with Costello syndrome with confirmed HRAS mutations.


Methods:  This was a cross-sectional study. Dermatologic surveys were designed by the authors and were completed by parents of mutation-positive CS individuals at the Costello Syndrome Family Network ...

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