What is neurofibromatosis?

Neurofibromatosis is a genetic disease with autosomal dominant transmision (parents to children). Its primary manifestations are the cafe au lait spots on the skin, neurofibroma (tumors beneath the skin), many tipes of tumors in many internal organs, mainly in the brain, optic nerves, spine. Patients have mental retardation, epilepsy and are exposed to diabetes and arterial hypertension. Its a disease of cellular proliferation which generates tumors in various organs.

I looked it up It is a dominantly inherited genetic disorder characterized by flat brown patches on the skin, neurofibromas of the skin and internal organs, and in some cases skeletal deformity.

This is a congenital and genetic disorder. There are two types - NF1 and NF2. NF1 is more common and most cases are mild. Some cases of NF1 can be debilitating. With NF2, the damage can be life-threatening when it affects cranial nerves or the brain stem.

Neurofibromas are fibrous tumors made of nerve tissue and result from an abnormal proliferation of Schwann cells. Schwann cells form the myelin sheath around peripheral nerve fibers. Myelin is a fat-protein coating. Neurofibromatosis is characterized by numerous neurofibromas of the nerves and skin, cafe-au-lait spots on the skin and developmental anomalies (deviations from what is considered normal) of muscle, bone and internal organs. There may be bone changes that result in skeletal deformities. Neurofibromas may even develop in the GI tract, the urinary bladder, endocrine glands and cranial nerves. It's also called multiple neuroma, neuromatosis and von Recklinghausen's disease.

The goal of treatment is to relieve symptoms and can include surgery or radiation therapy.

Epilepsy and mental retardation are not part of the disease.