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GlossaryNeurofibromas

benign tumors from nerve sheath, linked to genetic disorder

Neurofibromas are benign (non-cancerous) tumors that develop from the nerve sheath, which is the protective covering of nerves. They are commonly associated with a genetic disorder called Neurofibromatosis Type 1 (NF1) and can cause a range of symptoms depending on their size and location, including pain, neurological deficits, and cosmetic concerns.

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research Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management

15 citations , March 2024 in “Journal of Clinical Medicine”

Selumetinib causes skin and hair side effects in kids with NF1, affecting treatment and quality of life.

Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review

research Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review

August 2025 in “Ophthalmic Plastic and Reconstructive Surgery”

Selumetinib significantly reduced tumor size and improved vision in a child with neurofibromatosis type 1.

The Rare Association of Congenital Glaucoma, Giant Melanocytic Nevus, Alopecia, and Hypospadias in an Egyptian Child With Neurofibromatosis Type 1: A Case Report

research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report

September 2024 in “Egyptian Journal of Medical Human Genetics”

Consider NF1 in newborns with rare congenital anomalies.

Pharmacotherapy of Plexiform Neurofibromas in Patients with Neurofibromatosis Type 1: Possible Adverse Events and Their Management

research Pharmacotherapy of plexiform neurofibromas in patients with neurofibromatosis type 1. Possible adverse events and their management

July 2024 in “Russian Journal of Child Neurology”

Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.

Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene

research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene

November 2022 in “Journal of Investigative Dermatology”

Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.

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