Neurofibromatosis Type 1 (NF1) Overview
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 or mutation) 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 the 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 drug 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.
Johns Hopkins Outpatient Center
Dr. Jaishri Blakeley is the Marjorie Bloomberg Tiven Professor of Neurofibromatosis in Neurology, Oncology, and Neurosurgery at Johns Hopkins School of Medicine, director of the Johns Hopkins Comprehensive Neurofibromatosis Center and director of the Neurofibromatosis Therapeutic Acceleration Program (NTAP). She is an active clinician-scientist specializing in the care of people with NF1, NF2, LZTR1, SMARC1 schwannomatoses, and primary brain tumors. Her research expertise in the development of clinical trials for nervous system tumors and specifically, early clinical-translational studies including tumor pharmacokinetic and pharmacodynamic investigations, imaging biomarkers for rare nervous system tumors, and incorporation of patient-focused, functional endpoints into efficacy studies. She has been the national or international leader of 7 clinical trials focused on therapies for glioblastoma, NF1 and NF2. In 2012 she cofounded the NTAP to dramatically shift the landscape of NF1 via necessary, efficient, and expert discovery, translational and clinical research. NTAP focuses on therapeutics, fosters collaboration, facilitates open and timely sharing of results, and streamlines the research process to accelerate therapies for plexiform and cutaneous neurofibromas. Through NTAP, Dr. Blakeley has supported and collaborated with more than 80 laboratories and research teams across the globe enabling meaningful therapeutic development for NF1-associated neoplasms and supporting the development of an exceptional community of clinician scientists focused on NF1 via the Francis S. Collins Scholars Program in Neurofibromatosis Clinical and Translational Research. Her research and programmatic efforts are all in the service of improving outcomes for the patients with NF1, NF2, schwannomatosis, and primary brain cancer for whom she is honored to provide care. Dr. Blakeley is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis Type 1 (NF1). Her top areas of expertise are Neurofibromatosis, Schwannomatosis, Neurofibromatosis Type 2 (NF2), Neurofibromatosis Type 1 (NF1), and Laminectomy.
Johns Hopkins Health Care & Surgery Center - Green Spring Station, Lutherville
Carlos Romo, M.D., is a neuro-oncologist in Baltimore, Maryland. Dr. Romo specializes in the diagnosis and treatment of brain tumors, including glioblastoma, astrocytomas, oligodendrogliomas, neurofibromas, and schwannomas among others. Dr. Romo earned his medical degree from the School of Medicine and Health Sciences at Tecnológico de Monterrey in Mexico and completed his Neurology residency at the University of Arkansas for Medical Sciences, where he served as chief resident. He then completed a Neuro-oncology clinical and research fellowship in a joint program between The Johns Hopkins University and the National Institutes of Health. Dr. Romo additionally trained as a clinical pharmacology fellow at The Johns Hopkins University and completed training on clinical cancer research at the University of Texas MD Anderson Cancer Center. In his research, Dr. Romo studies drug pharmacokinetics and the blood-brain barrier, and investigates better ways to reach tumors in the central nervous system. Dr. Romo also studies treatments for patient with neurofibromatosis. In addition to patient care and research, Dr. Romo teaches and mentors medical and undergraduate students to help develop a future generation of neurologists. Dr. Romo is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis Type 1 (NF1). His top areas of expertise are Neurofibromatosis, Neurofibromatosis Type 1 (NF1), Schwannomatosis, and Astrocytoma.
Johns Hopkins Children's Center
Dr. Christine Pratilas is a pediatric medical oncologist at the Sidney Kimmel Comprehensive Cancer Center and Associate Professor of Oncology, Pediatrics & Cellular and Molecular Medicine at the Johns Hopkins University School of Medicine. She joined the Hopkins pediatric sarcoma team in 2014. Dr. Pratilas received her undergraduate degree in Biology from Drew University in New Jersey and her medical degree from UMDNJ - Robert Wood Johnson Medical School (now Rutgers University), where she also completed her internship and residency from 1999 to 2002. From 2002 to 2005 she was a fellow in hematology and oncology in the Memorial Sloan Kettering Cancer Center (MSKCC) Department of Pediatrics, and in the Department of Pediatric Hematology and Oncology at New York Weill Cornell Medical Center. She was a postdoctoral research fellow in Dr. Neal Rosen’s Molecular Oncogenesis Laboratory at MSKCC. From 2006 to 2014 she was attending in Pediatric Oncology at MSKCC, specializing in developmental therapeutics & sarcoma. She has been the director of the pediatric sarcoma program at Hopkins since 2018. Dr. Pratilas focuses her research on cancer-associated pathways and signal transduction, which involves figuring out how a cell’s internal molecular pathways work, and how those pathways can be molecularly controlled. This knowledge is the basis for developing promising new molecularly targeted cancer therapies, which is the focus of Dr. Pratilas’s research. Among her important scientific contributions is advancing our understanding of how certain proteins that can be mutated in cancer, known as RAF kinases (specifically BRAF), affect a cancer cell’s behavior. The research in Dr. Pratilas' laboratory is focused on RAS signal transduction pathways, concentrating on pediatric sarcomas such as rhabdomyosarcoma and malignant peripheral nerve sheath tumors, in order to develop novel therapeutics for children with these tumors. Dr. Pratilas is rated as an Elite provider by MediFind in the treatment of Neurofibromatosis Type 1 (NF1). Her top areas of expertise are Malignant Peripheral Nerve Sheath Tumor, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, Adult Soft Tissue Sarcoma, and Osteotomy.
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 are treated differently because they have hundreds of tumors on their skin.
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.
Background: People with neurofibromatosis 1 (NF1) who have plexiform neurofibromas (pNFs) can have pain that affects their daily lives. This study aims to improve questionnaires that measure their pain, daily living, and physical functioning.
Published Date: August 18, 2024
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. 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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Safier RA, Cleves-Bavon C, Gaesser J. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.
Tsao H, Luo S. Neurofibromatosis and tuberous sclerosis complex. In: Bolognia JL, Schaffer JV, Cerroni L, eds. Dermatology. 5th ed. Philadelphia, PA: Elsevier; 2025:chap 61.


