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

: Hyvönen, Hanna; Kettunen, Kaisa; Avela, Kristiina; Kivirikko, Sirpa; Jeskanen, Leila; Suominen, Sinikka; Salminen, Päivi; Hannula‐Jouppi, Katariina

Publisher: Wiley

: 2024

: Pediatric Dermatology

: Pediatr Dermatol

: 0736-8046

: 1525-1470

DOI: https://doi.org/10.1111/pde.15820

: https://doi.org/10.1111/pde.15820

: https://research.utu.fi/converis/portal/detail/Publication/477261590

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.

Pediatric Dermatology - 2024 - Hanna - Mosaic KRAS Mutation in Schimmelpenning Feuerstein Mims Syndrome With Overlapping.pdf

:
This work was supported by the State Funding for University-level Health Research.