GNAQ positive hepatic vascular tumors in a patient with neurofibromatosis type 1: A case report

JAAD Case Reports 2026 Open access

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Authors: Aaron Cheng, Dhrutiben Maisuri, Thuy L. Phung, Alia N. Nazarullah, Mario González Ruiz, Shawn Gessay, Rachel Wyatt, Shafqat Shah, Melissa J. Frei‐Jones
DOI: 10.1016/j.jdcr.2025.12.047
Cited by: 0
References: 9

Abstract

Neurofibromatosis type 1 (NF1) is the most common heritable neurocutaneous syndrome characterized by multiple café-au-lait macules, intertriginous freckling, multiple cutaneous neurofibromas, optic pathway gliomas, bony dysplasia, and learning disabilities.1 NF1 has rarely been associated with a concomitant diagnosis of the neurocutaneous vascular syndrome, Sturge-Weber Syndrome (SWS). SWS is characterized by a facial capillary malformation or port wine stain, risk of glaucoma, risk of seizures, and leptomeningeal angiomatosis on neuroimaging.

Fields of Study & Subjects

Neurofibromatosis and Schwannoma Cases Vascular Malformations and Hemangiomas Tuberous Sclerosis Complex Research

Publication details

Journal / source
JAAD Case Reports
Volume
70
Pages
105–108
Publication date
28 January 2026
Language
EN