Neurofibromatosis 1

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

Variants in NF1 gene lead to nonfunctional neurofibrin protein (a tumor suppressor); leads to high rate of benign neurofibroma tumors and increased risk of malignant tumors.

Common symptoms

Usually presents < 3 years of age with 2+ of the criteria in "Diagnosis". Neurofibromas can occur in any organoften numbering in the hundreds-thousandsmay cause paindisfigurement. Intracranial tumors may cause visual defectsprecocious puberty. Bony deformities (e.g. scoliosis) are common. Hypertensionlearning disabilitiesand seizures are common.

When to suspect

  • Recommendation 1

    Presence of 1 of the following 8 criteria is suggestive

  • Recommendation 2

    presence of 2 or more constitutes a diagnosis

  • Recommendation 3

    (1) 6+ cafe-au-lait spots (between 5 and 15 mm, smooth "Coast of California" borders)

  • Recommendation 4

    (2) Axillary or inguinal freckling

  • Recommendation 5

    (3) 2+ neurofibromas or 1+ plexiform neurofibroma

  • Recommendation 6

    (4) optic pathway glioma

  • Recommendation 7

    (5) 2+ Lisch nodules (on iris)

  • Recommendation 8

    (6) distinct osseous lesion (sphenous dysplasia, bowing of a long bone)

  • Recommendation 9

    (7) parent with NF1

  • Recommendation 10

    (8) germine variant of NF1 gene. Genetic testing is available but there are patients with NF1 who lack an identifiable NF1 variant

How to test

  • Recommendation 1

    Presence of 1 of the following 8 criteria is suggestive

  • Recommendation 2

    presence of 2 or more constitutes a diagnosis

  • Recommendation 3

    (1) 6+ cafe-au-lait spots (between 5 and 15 mm, smooth "Coast of California" borders)

  • Recommendation 4

    (2) Axillary or inguinal freckling

  • Recommendation 5

    (3) 2+ neurofibromas or 1+ plexiform neurofibroma

  • Recommendation 6

    (4) optic pathway glioma

  • Recommendation 7

    (5) 2+ Lisch nodules (on iris)

  • Recommendation 8

    (6) distinct osseous lesion (sphenous dysplasia, bowing of a long bone)

  • Recommendation 9

    (7) parent with NF1

  • Recommendation 10

    (8) germine variant of NF1 gene. Genetic testing is available but there are patients with NF1 who lack an identifiable NF1 variant

ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.

Treatment

  • Recommendation 1

    Neurofibromas need only be removed if symptomatic/disfiguring to the patient. Plexiform lesions may shrink in size with selumetinib. Malignancies if present are typically treated with standard of care for that tumor type.

Primary care

  • Recommendation 1

    NF1 patients have high cancer risk

  • Recommendation 2

    regular surveillance is very important for detecting signs of malignancy early and should include annual detailed physical exam, ophthalmalogic exam (in children), brain MRI if neurologic signs/symptoms present, breast MRI (women > 30). Annual physical exam should also assess for MSK deficits, HTN and cardiac disease, neurodevelopment (in children). NF1 payment assistance is available for patients.

Further support

  • Recommendation 1

    Patients may need a multidisciplanry team with neurologists, ophthalmologists, oncologists, and others. Several large hospitals have dedicated NF1 clinics including

  • Recommendation 2

    Texas Children's Hospital (Houston, TX 77030

  • Recommendation 3

    832-822-4280), Children's Hospital of Philadelphia (Philadelphia, PA 19104

  • Recommendation 4

    215-590-7012), Massachusetts General Hospital (Boston, MA 02114

  • Recommendation 5

    617-724-7856), Cleveland Clinic Children's (Cleveland, OH 44195

  • Recommendation 6

    216-442-5069). The Neurofibromatosis Network runs a Find a Doctor page to locate specalists who treat NF1. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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