Neurofibromatosis Type 1 (NF1)Symptoms, Doctors, Treatments, Advances & More
Learn About Neurofibromatosis Type 1 (NF1)
View Main Condition: Neural Crest Tumor
Neurofibromatosis-1 (NF1) is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the:
- Upper and lower layers of the skin
- Nerves from the brain (cranial nerves) and spinal cord (spinal root nerves)
NF1; Von Recklinghausen neurofibromatosis
NF1 is a genetic disease. If either parent has NF1, each of their children has a 50% chance of having the disease.
NF1 also appears in families with no history of the condition. In these cases, it is caused by a new gene change (variant) in the sperm or egg. NF1 is caused by problems with a gene for a protein called neurofibromin.
NF1 causes tissue along the nerves to grow uncontrollably. This growth can put pressure on affected nerves.
If the growths are in the skin, there can be cosmetic issues. If the growths are in other nerves or parts of the body, they can cause pain, severe nerve damage, and loss of function in the area the nerve affects. Problems with feeling or movement can occur, depending on which nerves are affected.
The condition can be very different from person to person, even among people in the same family who have the same NF1 gene change.
"Coffee-with-milk" (café au lait) spots are the hallmark symptom of NF1. Many healthy people have one or two small café au lait spots. However, adults who have six or more spots that are bigger than 1.5 cm in diameter (0.5 cm in children) could have NF1. In some people with this condition, these spots may be the only symptom.
Other symptoms may include:
- Tumors of the eye, such as optic glioma
- Seizures
- Freckles in the underarm or groin
- Large, soft tumors called plexiform neurofibromas, which may have a dark color and may spread under the surface of the skin
- Pain (from affected nerves)
- Small, rubbery tumors of the skin called nodular neurofibromas
There is no specific treatment for NF1. Tumors that cause pain or loss of function may be removed. Tumors that have grown quickly should be removed promptly as they may become cancerous (malignant). The medicine selumetinib (Koselugo) was approved by the US Food and Drug Administration in 2020 for use in children with severe tumors.
Some children with learning disorders may need special schooling.
Metropolitan Urological Specialist PC
Kaleb Yohay is a Pediatric Neurologist practicing medicine in New York, New York. Dr. Yohay is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis Type 1 (NF1). He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Neurofibromatosis, Neurofibromatosis Type 1 (NF1), RASopathies, and Batten Disease.
UVA Health Dermatology
Lu Le is a Dermatologist practicing medicine in Charlottesville, Virginia. Dr. Le is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis Type 1 (NF1). He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Legius Syndrome, and RASopathies. Dr. Le is currently accepting new patients.
Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville
Jaishri Blakeley is a Neurologist practicing medicine in Lutherville, Maryland. Dr. Blakeley is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis Type 1 (NF1). She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses Neurofibromatosis, Schwannomatosis, Neurofibromatosis Type 2 (NF2), Neurofibromatosis Type 1 (NF1), and Laminectomy. Dr. Blakeley is board certified in American Board Of Psychiatry And Neurology. Dr. Blakeley is currently accepting new patients.
More information and support for people with neurofibromatosis and their families can be found at:
- Children's Tumor Foundation - www.ctf.org
If there are no complications, the life expectancy of people with NF1 is almost normal. With the right education, people with NF1 can live a normal life.
Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.
Some people have large and numerous skin tumors, which can cause disfigurement. This may lead to embarrassment, low self-esteem, and social avoidance.
People with NF1 have an increased chance of developing severe tumors. In rare cases, these can shorten a person's lifespan.
Complications can include:
- Attention deficit hyperactivity disorder (ADHD)
- Blindness caused by a tumor in an optic nerve (optic nerve glioma)
- Break in the leg bones that does not heal well
- Cancerous tumors
- Loss of function in nerves that a neurofibroma has put pressure on over the long term
- High blood pressure due to pheochromocytoma or renal artery stenosis
- Regrowth of neurofibroma tumors
- Scoliosis, or curvature of the spine
- Tumors of the face, skin, and other exposed areas
Contact your provider if:
- You notice multiple coffee-with-milk colored spots on your child's skin or any other symptoms of this condition.
- You have a family history of NF1 and are planning to have children, or you would like to have your child examined.
Genetic counseling is recommended for anyone with a family history of NF1.
An annual checkup should be performed of the:
- Eyes
- Skin
- Back
- Nervous system
- Blood pressure
Background: NF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery. Researchers want to see if a drug called abemaciclib can help.
Summary: This clinical trial will test the safety and efficacy of combining trametinib and azacitidine in patients with juvenile myelomonocytic leukemia (JMML). Newly diagnosed lower-risk JMML patients will receive trametinib and azacitidine. High-risk JMML patients will receive trametinib, azacitidine, fludarabine, and cytarabine.
Published Date: August 14, 2026
Published By: Christopher Simotas, MD, Assistant Professor of Pediatrics, Division of Medical Genetics, Rutgers Robert Wood Johnson School of Medicine, New Brunswick, NJ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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