Neurofibromatosis 1 : Neurofibromas
Neurofibromatosis 1 (NF1; previously known as von Recklinghausen disease) is an autosomal dominant genetic disorder with very high penetrance affecting about 1 in 3000 individuals. It is characterized by multiple café-au-lait spots, neurofibromas, and iris hamartomas (Lisch nodules). Other manifestations include: CNS lesions (optic nerve glioma, astrocytoma, heterotopias), skeletal abnormalities (osteolytic lesions resembling non-ossifying fibroma), vascular abnormalities (renovascular hypertension due to intimal proliferation), gynecomastia, non-neural tumors (pheochromocytoma, myelogenous leukemia), and GIST. Neurofibromas appear during childhood or adolescence as slow-growing painless lesions in virtually any body location. They may be of localized, plexiform, or diffuse types. Plexiform neurofibroma is virtually diagnostic of NF1. This 40 y/o emaciated female presented with numerous cutaneous nodules on her face, trunk and extremities. The lesions were sessile as well as pedunculated, firm and non-tender. They were round to oval and measured 0.2 to 2.5 cms in size. There was positive family history of similar cutaneous lesions in her mother and brother. The diagnosis of neurofibromatosis 1 was confirmed with a biopsy of one of the lesions. The bilateral involvement of nipple-areola complex as seen in this case is quite uncommon. Image courtesy of: Dr. Sanjay D. Deshmukh, Professor of Pathology, Dr. V. Vikhe Patil Medical College, Ahmednagar, INDIA.