FGFR1 Mosaic Pathogenic Variant in Encephalocraniocutaneous Lipomatosis with Leptomeningeal Angiomatosis

Abstract

AbstractEncephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous disorder. It is characterized by ocular anomalies (epibulbar choristomas), skin lesions (as nevus psiloliparus and subcutaneous lipomas), and central nervous system abnormalities (mostly arachnoid cysts, brain anomalies, vascular defects, and intracranial and spinal lipomas). Mutations in KRAS and fibroblast growth factor receptor gene-1 (FGFR1) are related to ECCL, explaining additional manifestations such as jaw tumors or gliomas. We report a pediatric patient with clinical, radiological, and histological findings consistent with ECCL and a mosaic pathogenic variant in FGFR1 found in the DNA from a non-cultured biopsy of the nevus psiloliparus and absent in blood and DNA from buccal mucosa.