von Recklinghausen Disease

Since adolescence, a 67-yearold woman had had multiple nodular lesions on her body that were painful at times, particularly when pressure was applied. She reported that other family members, including her mother and brother, had similar lesions. Robert Levine, DO, of Long Beach, NY, made the clinical diagnosis of von Recklinghausen disease— also known as type 1 neurofibromatosis— an autosomal dominant disorder manifested by changes in the skin, nervous system, bones, and endocrine glands. The classic lesion is a neurofibroma—a skincolored, pink, or brown papule or nodule that is soft or firm and often pedunculated. Bodily distribution is random. The “buttonhole” sign, demonstrated by invagination with the tip of the finger, is pathognomonic. Because this patient had the characteristic skin lesions and a family history of the disorder, biopsy was not required. Patients with von Recklinghausen disease may have concurrent pheochromocytomas, pathologic fractures secondary to bone cysts, mental retardation, or brain tumors (especially astrocytomas). Short stature and precocious puberty also have been associated with this disorder. The incidence is about 1 in 4000 persons, and it is slightly more common in men. Although patients may seek treatment because of the disfiguring lesions, therapy should focus on the associated conditions. An evaluation for language disorders and learning disabilities and monitoring for bony abnormalities, such as kyphoscoliosis and tibial bowing, are required. Refer patients with bony abnormalities to an orthopedist. In addition, annual follow-up is recommended to detect sarcomas.