Von Recklinghausen Disease

A 66-year-old man presented with numerous cutaneous tumors. He had dementia and thus was unable to provide an accurate history.

Dr Charles E. Crutchfield and Ann Choi of St Paul write that this patient had neurofibromatosis. This systemic disorder of melanocytes is characterized by proliferation of Schwann cells that manifest as papules, nodules, and neurofibromas, which may develop in large nerves of the brain as well as on the skin. The autosomal dominant condition is linked to gene locus 17; it occurs in 1 of every 3000 persons and shows no gender predominance. In general, 60% of patients have mild disease, 20% have a moderate form, and 20% have severe disease.

Caf au lait spots and iris hamartomatous nevi, or Lisch nodules, are the most common signs of neurofibromatosis. Caf au lait macules and patches are flat, pigmented spots on the skin. The presence of these lesions in the axillae or inguinal folds (Crowe sign) is pathognomonic of the disease. Lisch nodules are clusters of pigment in the iris, which do not affect vision.

Other diagnostic criteria include a family history of the disease; the presence of neurofibromas on the skin; plexiform neurofibromas (large, soft, sack-like tumors); skeletal abnormalities, such as sphenoid wing dysplasia; and tumors on the optic nerve. The manifestations of the disease vary greatly. Associated complications include disfigurement, scoliosis, learning disabilities, large head, optic gliomas, congenital skeletal defects, and hypertension. Rarely, early or late onset of puberty, growth problems, mental retardation, epilepsy, an increased risk of rare malignant tumors, cerebrovascular occlusion, and pruritus may be associated with the disease.

Excision of the cutaneous tumors is the primary management approach. If associated complications arise, consider referral to an appropriate specialist. Genetic counseling also may be helpful. Because of the increased likelihood of developing neurofibrosarcoma, pheochromocytoma, vascular diseases, and CNS tumors, patients with neurofibromatosis may have a shortened life span.

FOR MORE INFORMATION:

• Ackerman AB, Kerl H, Sanchez J, et al, eds. A Clinical Atlas of 101 Common Skin Diseases: With Histopathologic Correlation. New York: Ardor Scribendi; 2000.