For both NF1 and NF2, the diagnosis is primarily based on the physical findings and a positive family history. Plain radiologic studies, which may detect many bony abnormalities (such as modeling defects of the long bones or ribs, bony erosion secondary to an adjacent plexiform neurofibroma, or scoliosis), may be useful diagnostic tests. Gadolinium-enhanced MRI of the brain is the preferred diagnostic imaging study of the head; however, neuroimaging in NF1 is typically only performed if symptoms or signs of abnormality occur, rather than as standard screening.
MRI scanning of the brain assists in evaluating the optic nerves or optic chiasm; however, ophthalmologic examinations are used to first screen for these abnormalities. Eye examinations are recommended annually in early childhood and less often in older children or adults with NF1.
MRI studies have been shown to frequently detect unidentified bright objects in the brain parenchyma of patients with NF1. These bright spots do not have clinical significance and may lead to unnecessary repeated testing; in general, they do not enhance, cause no mass effect, and often resolve as the patient gets older. It has been theorized that these masses may represent benign hamartomas.
MRI is also useful for diagnosing and evaluating other internal lesions, such as mediastinal masses, spinal cord tumors, deep plexiform neurofibromas, neurofibromas of the brachial or sacral plexus, and abdominopelvic lesions. Genetic analyses and psychological or developmental assessments should also be part of the evaluation of patients with neurofibromas.
Genetic testing of at-risk family members of patients with NF2 is recommended; screening for acoustic neuromas and the associated progressive hearing loss that can take place is indicated. Brain MRI is recommended on an annual basis from age 10-12 years through the fourth decade of life, as is hearing evaluation with brainstem auditory evoked response testing, which may demonstrate changes in auditory nerve function before changes on MRI may be seen.
No cure exists for NF1 or NF2, although various medical treatments are being evaluated in trials. The recommendations for follow-up include referral to support groups, psychological counseling, and evaluation for learning disorders; potential surgical excision of the lesions; and regular monitoring by a primary care provider for any lesion changes (patients with NF1 are at a somewhat increased risk for malignancy).
Annual ocular examinations are recommended. Genetic testing is also available for patients with NF who wish to have children; it is transmitted in an autosomal dominant fashion, although with variability in the severity of features even among family members.
Historically, surgery has been a successful treatment for the lesions themselves; however, there is often recurrence, and nerve damage is a risk in cases in which the lesions are located along neural pathways.
Medscape © 2014
Cite this: Fleshy Lesions on a 32-Year-Old Woman - Medscape - Nov 11, 2014.