{Reference Type}: Case Reports
{Title}: Next generation sequencing aids diagnosis and management in a case of encephalocraniocutaneous lipomatosis.
{Author}: Barry KK;Liang MG;Balkin DM;Srivastava S;Church AJ;Eng W;
{Journal}: Pediatr Dermatol
{Volume}: 41
{Issue}: 1
{Year}: 2024 Jan-Feb 24
{Factor}: 1.997
{DOI}: 10.1111/pde.15353
{Abstract}: 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.