Neurofibromatosis

Overview

Neurofibromatosis causes tumors to grow on nerves.

Most tumors are not cancer.

Light brown skin spots are often the first sign.

Symptoms

Common signs:

• Light brown skin spots
• Dark spots or patches on the skin

Less common

• Lumps under skin
• Learning problems

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history
• Children of a parent with it: 1 in 2 chance

Possible complications

• Learning problems: Common in children with NF1
• Scoliosis: A curved spine

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Exam:
• Gene test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Yearly checkups
• Get yearly checkups
• Have eye exams

Prevention

To lower your risk or prevent problems:

• Genetic counseling

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a neurologist (brain and nerve doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Children: Learning problems are common.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Most live full lives with checkups.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Neurofibromatosis