Neurofibromatosis

Neurofibromatosis Type 1, or NF1 is a genetic disorder affecting 1 in 3,500 births worldwide, the most commonly occurring neurological disorder caused by a single gene. There are numerous physical manifestations of NF1 including enlarged head, cafe-au-lait spots, small brown bumps on the iris of the eye, known as Lisch nodules, learning disabilities, scoliosis and/or the early or delayed onset of puberty. However, the main characteristic of this disorder is the production of fibrous tumors anywhere along the nervous system. ("Neuro-" meaning nerve and "Fibroma-" referring to the fibrous nature of the tumors.) Although many presentations are mild to moderate, NF1 can lead to disfigurement, blindness, skeletal abnormalities, dermal, brain and spinal tumors, loss of limbs and malignancies. It was once mistakenly believed that NF1 was the cause of The Elephant Man, John Merrick's grotesque affliction (his condition has now been attributed to Proteus Syndrome). Although these are two different disorders, individual cases of NF1 tumors have been known to number in the hundreds while single tumors have grown to weigh up to 200 pounds! Today, there is no cure for neurofibromatosis.