Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, nervous system, and other parts of the body. The condition, formerly called Von Recklinghausen disease, causes changes in ... Neurofibromatosis type 1 (NF1) is a genetic condition where tumors (mostly benign) grow on skin, nerves, and bones.

Understanding the Context

It is also known as von Recklinghausen disease. Neurofibromatosis 1 (NF1), historically called von Recklinghausen’s disease, is a genetic disorder characterized by increased risk of developing noncancerous (benign) and cancerous (malignant) tumors, as well as various other physical and neurological manifestations. Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder arising from mutations in the NF1 gene that encodes the tumour suppressor protein neurofibromin. Research has increasingly refined our ...

Key Insights

What is NF1? Neurofibromatosis type 1 (also called Von Recklinghausen’s disease, Von Recklinghausen neurofibromatosis and peripheral NF) is one of the most commoninherited disorders and affects about one in every 3,000 people. Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. Skin changes include flat, light brown spots and freckles in the armpits and groin. NF1 is a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types.

Final Thoughts

NF-1 causes tumors along the nervous system that can grow anywhere on the body. Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, the skeleton and the part of the nervous system outside the brain and spinal cord peripheral nervous system). Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the presence of skin differences. Ten percent of people with NF1 develop cancerous neurofibromas. Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin.

This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells).