Neurofibromatosis Diagnosis
How will your doctor diagnose you with this condition? Learn about the tests, exams, processes, and other information relating to the diagnosis of Neurofibromatosis below.
Learn
- Overview
- What It Is
- Causes
- Risk Factors
- Diagnosis
- Symptoms
- Prognosis
- Living With
- Complications
- User Questions
Take Action
- Screening
- Medications
- Prevention
- Treatment
- Alternative Treatment
- Care Guide
- Questions for Your Doctor
- When to Contact a Doctor
- Find a Doctor
- Resource Guide
How to Diagnose Neurofibromatosis
The doctor will ask about your:
- Symptoms
- Medical history
- Family medical history
The doctor will also do a physical exam. The diagnosis is generally made based on physical findings. Examples include:
- Cafe-au-lait spot (main sign of NF)-Adults with six or more spots greater than 1.5 cm in diameter are likely to have NF.
- Freckling in the armpits, groin, or underneath the breast in women
- Multiple soft tumors apparent on the skin or deeper in the body viewed by radiologic testing (scans)
- Soft nodules under the skin
- Large infiltrating tumors under the skin, which can cause disfigurement and can progress to become malignant peripheral nerve sheath tumors
- Pigmented, raised spots on the colored part of the eye
Tests for NF1 may include:
- Exam by a doctor familiar with NF1 (eg, neurologist, geneticist, dermatologist)
- Eye exam by an ophthalmologist familiar with NF1
- Removal of neurofibromas for testing
- Other specific tests associated with complications
- MRI scan-a test that uses magnetic waves to make pictures of structures inside the brain
- Genetic testing-available for families with a history of NF1 and NF2. Prenatal diagnosis may be possible with amniocentesis or chorionic villus sampling.
Latest Articles
There are no articles are available for Neurofibromatosis.
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor
implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A
MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment
or with any questions you may have regarding a medical condition. Copyright ©2013 EBSCO Publishing All rights
reserved. Source: EBSCO
