Comprehensive Clinical Presentation in a Case of Coexisting Sturge-Weber Syndrome and Neurofibromatosis Type 1

Neurofibromatosis Type 1 (NF1) and Sturge-Weber syndrome (SWS) are both genetic disorders with distinct clinical manifestations. NF1 is characterized by multiple neurofibromas, café-au-lait spots, axillary freckling, and potential optic gliomas due to mutations in the <i>NF1</i> gene on chromosome 17. In contrast, SWS is marked by capillary malformations, leptomeningeal angiofibromas, and congenital glaucoma resulting from post-zygotic mutations in the Guanine Nucleotide-Binding Protein (G Protein), subunit Alpha (GNAQ) gene. Here, we report an exceptional coexistence of both NF1 and SWS. The patient displayed multiple café-au-lait spots, neurofibromas, axillary freckling, fulfilling the criteria for NF1. Concurrently, the patient exhibited a port-wine stain in the periorbital territory aligning with the clinical features of SWS.