Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatr Dermatol. 2024 Dec 7. doi: 10.1111/pde.15820. Online ahead of print.

Abstract

We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients. These findings corroborate the evidence of SFM syndrome being a mosaic RASopathy, broaden the phenotypic spectrum of oculocutaneous mosaic RASopathies, and indicate SFM syndrome as a continuum of the OES-ECCL disorder spectrum.

Keywords: dermatology; genotype; mosaicism; mutation; phenotype.

Publication types

  • Case Reports