DISCUSSION
The examination findings were consistent with multiple neurofibromas. Based on clinical presentation and imaging studies, the patient was presumed to have neurofibromatosis type I (von Recklinghausen's disease). This disorder is a rare, autosomal dominant genetic disease characterized by nerve tissue proliferation. Primary features of this disorder include neurofibromas, optic gliomas, Lisch nodules, café-au-lait spots, and freckling of the axillary and inguinal regions. Persons with this disease may have a higher risk of developing hypertension secondary to renovascular involvement.1
Comment The majority of neurofibromas are not malignant; however, their growth may result in cosmetic deformity or may interfere with ADLs. Neurofibromas may also cause other pedunmedical problems by impinging on structures such as visceral organs or the spinal cord.2 There is no cure for neurofibromatosis, and primary treatment modalities are still under investigation. Surgical resection may be necessary.
Treatment The patient opted to have elective surgery to remove the mass. A preoperative MRI was performed to rule out the presence of intracranial and spinal lesions. The study showed several subcutaneous nodular masses, also consistent with neurofibromas. Age-appropriate cortical atrophy was noted. No focal intracranial mass lesions, collections, or parenchymal abnormalities were elucidated.
The patient was taken to the surgery suite for resection of the right buttock mass. The specimen was a lobulated, firm mass that weighed approximately 20.75 lb. Pathologic evaluation revealed no evidence of malignant transformation. Furthermore, the neoplasm was concluded to be a diffuse-type pigmented neurofibroma with focal atypical features. Diffuse neurofibromas are characterized by infiltrative growth involving the skin and subcutaneous tissues.3 Future treatment may be necessary if her remaining neurofibromas become symptomatic. JAAPA
Meredith Beaty and Nicholas Martella are recent graduates of the PA program at Stony Brook University, Stony Brook, New York. Scott Baker and James O'Connor practice at Queens Hospital Center, Jamaica, New York. The authors have indicated no relationships to disclose relating to the content of this article.
Erich Fogg, PA-C, MMSc, department editor
REFERENCES
1. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007; 6(4):340-351.
2. Plon S, Blazo M. Neurofibromatosis type 1 (von Recklinghausen's disease). UpToDate Web site. http://www.uptodate.com/patients/content/topic.do?topicKey=~aECJbeFNhpIyeO& selectedTitle=1~43&source=search_result. Accessed February 5, 2010.
3. Huang GS, Huang CW, Lee HS, et al. On the AJR viewbox. Diffuse neurofibroma of the arm: MR characteristics. AJR Am J Roentgenol. 2005;184(5):1711-1712.