Encephalocraniocutaneous lipomatosis (ECCL) is one of the rare neurocutaneous syndromes, first identified in 1970 with nearly 60 cases were reported in the literature afterward. The etiology of this syndrome was recently identified to be mosaic activating mutations in Fibroblast growth factor receptor 1 (FGFR1). Based on this, a recent study published in the Journal of pediatric hematology/oncology reported a case of 5-year-old boy presented with worsening headaches for 3 months.
Examination showed a tissue nevus of the scalp (nevus psiloliparus), subcutaneous soft tissue masses on the right side of his face, neck, mandible and right buttock and epibulbar dermoid of the right eye (choristoma). Magnetic resonance imaging displayed a large suprasellar mass, which was debulked and found to be a pilocytic astrocytoma. After 7 years, he was started on adjuvant chemotherapy for gradual tumor…
