%0 Case Reports
%T Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
%A Barry KK
%A Liang MG
%A Balkin DM
%A Srivastava S
%A Church AJ
%A Eng W
%J Pediatr Dermatol
%V 41
%N 1
%D 2024 Jan-Feb 24
%M 37486073
%F 1.997
%R 10.1111/pde.15353
%X Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic FGFR1 and KRAS variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS-MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next-generation sequencing of affected tissue identified a pathologic FGFR1 p.K656E variant, thereby establishing a molecular diagnosis. Patients with FGFR1-associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications.