Neurofibromatosis

Reading File

Finding Sources

Searching PubMed

neurofibromatosis

Searching the Web

Neurofibromatosis type 1 type 2 schwannomatosis diagnosis management official guidelines

Reading File

Reading Web Page

https://medlineplus.gov/genetics/condition/neurofibromatosis…

Neurofibromatosis (NF) is a group of inherited conditions that predispose people to growths involving nerves and to characteristic skin, eye, bone, and neurological findings. The most common form is neurofibromatosis type 1 (NF1).

NF1

Caused by a pathogenic variant in the NF1 gene, which affects the tumor-suppressor protein neurofibromin.
It is autosomal dominant. Each child of an affected parent has a 50% chance of inheriting it, though about half of cases arise from a new genetic change.
Features vary greatly, even within the same family.

Common features include:

Café-au-lait macules: flat, light-brown skin patches
Freckling in the armpits or groin
Neurofibromas: usually benign soft tumors in or beneath the skin, sometimes deeper along nerves
Lisch nodules in the iris
Learning, attention, or developmental difficulties
Scoliosis or other bone changes
Possible optic pathway glioma, particularly in childhood
Increased risk of certain tumors, including malignant peripheral nerve sheath tumor and, less commonly, pheochromocytoma

NF1 occurs in roughly 1 in 3,000 to 4,000 people. MedlinePlus Genetics summarizes its features and inheritance. Goldman-Cecil Medicine, section “Neurofibromatosis,” describes NF1 as an autosomal dominant NF1 tumor-suppressor disorder with café-au-lait spots, axillary/inguinal freckling, neurofibromas, Lisch nodules, skeletal abnormalities, gliomas, and cognitive effects.

NF2-related schwannomatosis

Formerly called neurofibromatosis type 2, this is distinct from NF1 and much less common. Its hallmark is bilateral vestibular schwannomas, which may cause hearing loss, tinnitus, and balance problems. Meningiomas, other schwannomas, spinal tumors, and cataracts can occur. Fitzpatrick’s Dermatology, p. 2501, notes its hallmark bilateral vestibular schwannomas and associated risk of tumors throughout the neural axis.

Evaluation and follow-up

Diagnosis is based on clinical criteria, family history, and sometimes genetic testing. Care is usually coordinated through a genetics, neurology, dermatology, ophthalmology, and sometimes oncology team. For NF1, periodic assessment typically includes:

Skin and neurologic examination
Blood pressure measurement
Vision monitoring in young children
Developmental and school-support assessment
Targeted imaging only when symptoms or examination findings indicate it, rather than routine whole-body or brain MRI for everyone. NF1 management guidance supports symptom-directed imaging and regular clinical surveillance.

Seek prompt medical assessment for

A neurofibroma that becomes rapidly larger, hard, persistently painful, or causes new weakness/numbness
New severe headache, seizures, vision decline, or balance/hearing changes
Persistent high blood pressure, palpitations, sweating episodes, or severe unexplained abdominal pain
New bladder/bowel dysfunction or signs of spinal cord compression

Neurofibromatosis is not one uniform condition. Many people, especially with NF1, have mild disease, while others need ongoing specialist care.

This is a shared conversation. Sign in to Orris to start your own chat.