Diagnosis hinges on 2 of these 7 criteria
For adult patients, the diagnosis is clinical and straightforward. At least 2 of the following criteria should be present for the diagnosis:1-6
- 6 or more café-au-lait spots
- axillary or inguinal freckling
- 2 or more neurofibromas
- a first-degree relative with NF1
- 2 or more Lisch nodules
- a distinctive osseous lesion
- optic pathway glioma.
The diagnosis in youngsters, especially those younger than 8 years, can be difficult and may require genetic testing. Genetic testing is also recommended for individuals with a single sign, or with variant disorders.3 Genetic counseling and testing are also recommended in preimplantation and prenatal situations.3 Biopsy of the cutaneous and subcutaneous lesions for diagnostic purposes is not usually recommended.1-5
Management is challenging as there is no definitive treatment
The effect of NF1 on patients’ lives is significant. Management usually requires a multidisciplinary approach led by a primary care physician.3 To date, there is no definitive treatment for NF1.
Removal of symptomatic cutaneous and subcutaneous lesions is recommended; however, the recurrence rate is high1-3 (strength of recommendation [SOR]: B). About 10% of patients with NF1 will develop a malignant nerve sheath tumor, which usually arises from preexisting plexiform neurofibromas.1-4 Surgical excision with clear margins is the goal of treatment.2
A good outcome for my patient
The nodules on the patient’s medial elbow and the back of his thigh and knee were excised. The pathology confirmed the diagnosis. There was no malignant transformation.
CORRESPONDENCE Morteza Khodaee, MD, MPH, AFW Family Medicine Clinic, 3055 Roslyn Street, Denver, CO 80238; morteza.khodaee@ucdenver.edu