Neurofibromatosis

A 19-year-old man was referred for further investigation of multiple pigmented cutaneous lesions.

The patient was 175 cm (5 ft 9 in) tall, alert, and well-oriented. There was no history of seizures or learning problems. He reported taking no medications, and his family history was noncontributory. Arterial blood pressure was normal, and evaluation of the ear, nose, and throat was unrevealing. Slit-lamp examination disclosed no Lisch nodules (pigmented lesions or iris hamartomas).

Multiple caf au lait skin lesions larger than 2 cm were seen on the patient's face, arms, chest, and back (A). Axillary freckling and multiple palpable, ill-defined, rubbery cutaneous tumors were noted on the face, neck, and right antecubital surface (B). Drs Haralampos J. Milionis, Evangelos Rizos, and Moses S. Elisaf of Ioannina, Greece, suspected von Recklinghausen's disease, or neurofibromatosis type 1, an autosomal dominant disorder. This diagnosis was confirmed when histopathologic examination of a biopsy specimen from the tumor revealed a neurofibroma composed of Schwann cells and nerve fibroblasts.

The patient was screened for multiple endocrine neoplasia, type IIB, or Sipple's syndrome, which is commonly seen in patients with neurofibromatosis. No evidence of the disorder-medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas-was found.

No general treatment is available for patients with neurofibromatosis. If tumors are severely symptomatic, surgical excision or radiation therapy can be considered, but function of the involved nerve may be compromised. This patient was offered genetic counseling and discharged.