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Neurofibromatosis

Genetic disorders predisposing to nerve sheath tumors.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Neurofibromatosis?

Neurofibromatosis is a group of autosomal dominant genetic disorders that predispose patients to tumors arising from nerve sheath cells. The two main types are NF1 (von Recklinghausen disease, 1 in 3,000) and NF2 (1 in 25,000).

NF1 is characterized by café-au-lait macules, neurofibromas, axillary and inguinal freckling (Crowe sign), Lisch nodules, and optic gliomas. NF2 is defined by bilateral vestibular schwannomas (acoustic neuromas).

The NF1 gene at 17q11.2 encodes neurofibromin, and the NF2 gene at 22q12.2 encodes merlin; both are tumor suppressors. About half of cases arise from de novo mutations.

Symptoms

Six or more café-au-lait macules > 5 mm in children, > 15 mm in adults
Cutaneous and plexiform neurofibromas
Bilateral hearing loss in NF2 due to vestibular schwannomas
Learning disabilities and ADHD in 50 to 60 percent of NF1 patients
Scoliosis and other bone abnormalities
Optic glioma in 15 to 20 percent of NF1 patients

Risk Factors

Parental NF1 or NF2 with 50 percent transmission risk
De novo mutations in approximately half of cases
Autosomal dominant inheritance
Risk of malignant transformation in plexiform neurofibromas (8 to 13 percent in NF1)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • A child with multiple café-au-lait macules
  • Subcutaneous masses that grow over time
  • Hearing loss, especially unilateral or bilateral
  • Pain change or rapid growth in a known neurofibroma

Treatment Methods

01
Multidisciplinary surveillance (neurology, dermatology, orthopedics, ophthalmology)
02
Surgery for symptomatic neurofibromas and vestibular schwannomas
03
Selumetinib (MEK inhibitor) for inoperable plexiform neurofibromas in NF1
04
Radiosurgery for vestibular schwannomas in NF2
05
Hearing rehabilitation with hearing aids or cochlear implants
06
Genetic counseling and family screening

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.