Neurofibromatosis Type-1; Hereditary Condition Commonly Associated With Multiple Spots on the Skin

Neurofibromatosis type-1 (NF1) is a rare disease condition characterized by changes in skin color (pigmentation) and growth of tumors in the skin nerves and other parts of the body. Signs and symptoms of this condition varies widely among those affected. In children, NF1 displays multiple patches of skin surrounded by dark pigmentation, which can enlarge and form freckles in the underarms, whereas in adults they develop non-cancerous tumors in the spinal cord or along the nerves in the patient's body.

Neurofibromatosis type-1 is caused by a faulty gene, and if the gene is defective, it may lead to uncontrolled growth of tumors, which may develop in the nervous system. In about half of all cases of neurofibromatosis type-1, the faulty gene is passed from a parent to their child. Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type 1, type 2, and schwannomatosis. The majority of people with this condition have no clinical symptoms.

Although there is no known treatment or cure, it can be treated and managed by certain medications. Medication can be prescribed to help with pain. In some cases, growths may be removed surgically or reduced with radiation therapy. NF1 is associated with a variety of signs and symptoms such as plexiform tumors, vascular complication, learning disabilities, dermal neurofibromas, brain tumors, bony lesions, and malignant peripheral nerve sheath tumors. Thus, there is an increasing demand for neurofibromatosis type-1 treatment.

For example, in June 2021, the European Commission conditionally approved AstraZeneca and MSD’s Koselugo (selumetinib) for the treatment of symptomatic, inoperable plexiform neurofibromas (PN) in paediatric patients with neurofibromatosis type 1 aged three years and above. Moreover, in April 2020, the U.S. Food and Drug Administration (USFDA) approved Koselugo (selumetinib) for use in patients with inoperable plexiform neurofibromas, a common manifestation in the disease neurofibromatosis type one. However, treatment of NF1 depends on the signs and symptoms of the condition.