34625 Cutaneous manifestations of a rare RASopathy: Costello syndrome

Introduction: Costello syndrome (CS) is a rare genetic condition with only approximately 350 affected individuals reported worldwide. CS manifests phenotypically in various anatomic, physiologic, and cutaneous abnormalities, from non-specific findings, such as failure to thrive, to more distinct features, like coarse facial features and papillomata of the face. CS belongs to the group of RASopathies, which have overlapping features caused by gene mutations in the RAS pathway. Presented here is a case of a young woman with previously-diagnosed CS (heterozygous germline mutation in HRAS) with characteristic phenotypic abnormalities.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research