Deep-seated segmental neurofibromatosis without cafe au lait spots

Segmental neurofibromatosis is a rare disease characterized by neurofibroma s with or without cafe au lair spots localized to one segment of the body. The majority of reported cases have had cutaneous neurofibromas, and patien ts with deep involvement have rarely been described. We report on two patie nts with deep-seated segmental plexiform neurofibromatosis and review the l iterature. All reviewed cases including the present two had no cafe au lait spots, axillary freckling, Lisch nodules, family history or malignant prog ression of disease. Differential diagnoses from neurofibromatosis 1 (von Re cklinghausen disease) and malignant peripheral nerve sheath tumor are impor tant for genetic counseling and avoiding overtreatment.