Neurofibromatosis: Types, Symptoms, and Finding the Right Specialist

What Is Neurofibromatosis?

Neurofibromatosis (NF) is a group of genetic disorders causing tumors to grow on nerve tissue. It affects the nervous system, skin, bones, and eyes.

Three Main Types

Type	Prevalence	Key Features
NF1 (von Recklinghausen)	~1 in 3,000	Café-au-lait spots, neurofibromas, Lisch nodules, bone deformities, learning disabilities
NF2	~1 in 40,000	Bilateral vestibular schwannomas (hearing loss, tinnitus, balance issues), other CNS tumors
Schwannomatosis	Rare	Multiple schwannomas (painful), no vestibular tumors, no hearing loss

Common Symptoms

• Skin tumors (neurofibromas)
• Bone abnormalities (scoliosis, tibial dysplasia)
• Learning and cognitive challenges
• Seizures
• Vision problems (optic glioma, Lisch nodules)
• Chronic pain (especially schwannomatosis)

Management and Specialists

There is no cure, but multidisciplinary care improves outcomes:

• Neurologist: CNS tumors, seizures, neuropathy
• Geneticist: Diagnosis, counseling, family screening
• Neurosurgeon: Tumor resection when indicated
• Ophthalmologist: Optic pathway gliomas, Lisch nodules
• Orthopedist: Scoliosis, bone lesions
• Oncologist: Malignant transformation (rare)
• Pain specialist, audiologist, physical therapist as needed

Finding Care

Seek an NF Clinic or Neurofibromatosis Center affiliated with the Children's Tumor Foundation for comprehensive, coordinated management.