%Start Neurofibromatosis Type 1 NF1 Johns Hopkins Medicine
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Chloe Santos 2 minutes ago
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Audrey Mueller 1 minutes ago
Most people with NF1 have recognizable symptoms often affecting the skin, eyes and nervous system, c...
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Ava White Moderator
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Neurofibromatosis Type 1 NF1 Share on Facebook Share on Twitter Share on Linkedin Share on Pinterest Share via Email Print this Page
What You Need to Know Neurofibromatosis type 1 (NF1) is a condition caused by a change in a specific gene, and therefore can be inherited and passed on. Not all people with NF1 inherit the disease. It can also develop spontaneously.
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Amelia Singh 2 minutes ago
Most people with NF1 have recognizable symptoms often affecting the skin, eyes and nervous system, c...
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Elijah Patel 8 minutes ago
Symptoms are evaluated and addressed, but presently, there is no way to eradicate NF1. What is NF1 ...
Most people with NF1 have recognizable symptoms often affecting the skin, eyes and nervous system, commonly before age 10. NF1 affects males and females equally, and shows no preference for race or ethnicity. NF1 is a progressive disease.
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William Brown Member
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Wednesday, 07 May 2025
Symptoms are evaluated and addressed, but presently, there is no way to eradicate NF1. 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. NF1 ranges from mild to severe, and can cause more symptoms in some people than in others.
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William Brown 7 minutes ago
It can affect many organs and systems, but primarily the skin, nervous system and eyes. NF1 Symptoms...
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Amelia Singh Moderator
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Wednesday, 07 May 2025
It can affect many organs and systems, but primarily the skin, nervous system and eyes. NF1 Symptoms and Diagnosis Neurofibromatosis type 1 symptoms can involve many different parts of the body.
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Liam Wilson 17 minutes ago
A doctor with expertise in NF1 can provide an accurate diagnosis based on the symptoms, family histo...
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Natalie Lopez 14 minutes ago
These light brown skin patches are sometimes called cafe au lait birthmarks because they are frequen...
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Andrew Wilson Member
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12 minutes ago
Wednesday, 07 May 2025
A doctor with expertise in NF1 can provide an accurate diagnosis based on the symptoms, family history, as well as genetic testing and other imaging tests or biopsy. For a definite diagnosis, a person has: Two or more of the following signs or One or more of the signs along with a family history of NF1: Six or more cafe-au-lait spots.
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Joseph Kim 3 minutes ago
These light brown skin patches are sometimes called cafe au lait birthmarks because they are frequen...
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Aria Nguyen 10 minutes ago
Sometimes, a neurofibroma can become malignant (cancerous). Freckles under the arms or in the groin ...
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Grace Liu Member
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35 minutes ago
Wednesday, 07 May 2025
These light brown skin patches are sometimes called cafe au lait birthmarks because they are frequently present at birth. Two or more benign tumors called neurofibromas that appear on the skin surface or just under it, or at least one plexiform neurofibroma that typically develops deeper inside the body. In severe cases, multiple skin tumors can appear as lumps under the skin all over the body.
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David Cohen Member
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Wednesday, 07 May 2025
Sometimes, a neurofibroma can become malignant (cancerous). Freckles under the arms or in the groin area. These can appear in childhood.
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Mia Anderson Member
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45 minutes ago
Wednesday, 07 May 2025
A distinctive bone lesion, usually in the long bones or a bone of the skull A mutation in the NF1 gene that is found by performing genetic testing and is known to cause neurofibromatosis type 1 Two or more Lisch nodules, which are benign findings in the iris (the colored part of the eye) Optic pathway glioma, which is a tumor that originates from the optic nerve behind the eye
Bone Deformities Associated with NF1 NF1 can affect the bones. Skeletal NF issues that may need to be treated by an orthopaedic specialist include: Osseous (bony) lesions and malformations Pseudoarthrosis (a false joint or unhealed fracture) affecting the tibia (a bone in the lower leg) Bowing of the tibia Sphenoid wing dysplasia (abnormal bone growth in the base of the skull) Scoliosis Kyphosis Short stature Osteoporosis
Cardiovascular Conditions Related to NF1 Aneurysm Coarctation of the aorta Hypertension (high blood pressure) Moyamoya disease Renal artery stenosis Stroke
Nervous System Conditions Associated with NF1 About 15% of people with NF1 develop brain tumors called gliomas, usually during childhood.
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Sophia Chen Member
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Wednesday, 07 May 2025
The most common gliomas associated with NF1 are astrocytoma, brain stem glioma and optic pathway glioma. Other tumors associated with NF1 are malignant peripheral nerve sheath tumors.
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Alexander Wang Member
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Wednesday, 07 May 2025
Other manifestations of NF1 include Attention-deficit/hyperactivity disorder (ADHD) and learning disabilities (affecting about 65% of people with NF1) Macrocephaly (an unusually large head) Headache Glaucoma Numbness or weakness Pain Seizures Problems with self-image Anxiety
NF1 Gene - What causes neurofibromatosis type 1 Neurofibromatosis type 1 is caused by a change in the NF1 gene, which is found on chromosome 17. Some people with NF1 have signs and symptoms only on one part of their body.
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Jack Thompson Member
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Wednesday, 07 May 2025
This is called mosaic (or segmental) NF1. Genetic testing for this form of NF1 can be more complex than for a nonmosaic form of the condition.
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Dylan Patel 35 minutes ago
Can neurofibromatosis type 1 be passed on in families Yes. Some people with neurofibromatosis type ...
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Luna Park 14 minutes ago
Whether the NF1 gene change was inherited from a parent or is new, every person with an NF1 gene cha...
Can neurofibromatosis type 1 be passed on in families Yes. Some people with neurofibromatosis type 1 have inherited a change in the NF1 gene from one of their parents. Others with NF1 are the first person in their family to be affected with this condition, and are thought to have a new change in the NF1 gene.
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Thomas Anderson 37 minutes ago
Whether the NF1 gene change was inherited from a parent or is new, every person with an NF1 gene cha...
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Mason Rodriguez Member
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Wednesday, 07 May 2025
Whether the NF1 gene change was inherited from a parent or is new, every person with an NF1 gene change has a 50% chance of passing this change on each time they have a child. When planning for pregnancy, an evaluation by a prenatal counselor may be beneficial, and could include a conversation about in vitro fertilization with pre-implantation genetic testing.
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Ethan Thomas 21 minutes ago
Is there a genetic test for the NF1 gene Genetic testing for the NF1 gene is available...
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Zoe Mueller Member
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Wednesday, 07 May 2025
Is there a genetic test for the NF1 gene Genetic testing for the NF1 gene is available and may be appropriate for people with questions about inheriting neurofibromatosis type 1 or passing it on to a child. Consulting a specialized neurofibromatosis or genetics clinic can provide more guidance.
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Sofia Garcia 4 minutes ago
NF Care at Johns Hopkins The Johns Hopkins Comprehensive Neurofibromatosis Center is one of the few...
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James Smith 1 minutes ago
Neurofibromatosis Type 1 Treatment While there is no treatment that can reverse NF1, its signs and s...
NF Care at Johns Hopkins The Johns Hopkins Comprehensive Neurofibromatosis Center is one of the few specialized centers in the world helping patients with NF1, NF2 and schwannomatosis. Our multi-specialty team uses the latest treatment approaches that aim to address all aspects of living with NF. Learn more about the center.
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Sebastian Silva 9 minutes ago
Neurofibromatosis Type 1 Treatment While there is no treatment that can reverse NF1, its signs and s...
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Madison Singh 43 minutes ago
Addressing NF1 Symptoms Expert evaluation and a multispecialty approach at a specialized clinic can ...
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Alexander Wang Member
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Wednesday, 07 May 2025
Neurofibromatosis Type 1 Treatment While there is no treatment that can reverse NF1, its signs and symptoms can be addressed. Tumors, in particular, may warrant chemotherapy, radiation, surgery or a combination of treatments. In about 60% of people with NF1, symptoms are mild and can be monitored without the need for treatment.
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Charlotte Lee 26 minutes ago
Addressing NF1 Symptoms Expert evaluation and a multispecialty approach at a specialized clinic can ...
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Ryan Garcia Member
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Wednesday, 07 May 2025
Addressing NF1 Symptoms Expert evaluation and a multispecialty approach at a specialized clinic can help a person with NF1 manage symptoms and improve quality of life, and in some cases can provide opportunities for participation in clinical trials. Treatment options include the following. For ADHD: medications, behavioral therapy For bone deformities: observation, bracing and/or surgery to straighten and align bones in the spine or legs For learning disabilities: individualized education programs, medications For malignant peripheral nerve sheath tumors: surgery, chemotherapy, radiation therapy For neurofibromas: observation, surgery, drug therapy is under clinical investigation For optic glioma: observation, chemotherapy, radiation For pain: medication, acupuncture, behavioral intervention, surgery, interventional treatment For plexiform tumors: medication, surgery, new drug therapies are under clinical investigation For vascular complications: observation, medication, surgery Find a Doctor Specializing In: Neurofibromatosis At Another Johns Hopkins Member Hospital: Howard County General Hospital Sibley Memorial Hospital Suburban Hospital Find a Treatment Center Comprehensive Neurofibromatosis Center Find Additional Treatment Centers at: Howard County General Hospital Sibley Memorial Hospital Suburban Hospital
Related Neurofibromatosis Neurofibromatosis Type 2 (NF2) Schwannomatosis
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Related Neurofibromatosis Neurofibromatosis Neurofibromatosis Neurofibromatosis Type 2 (NF2) Neurofibromatosis Schwannomatosis
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Lily Watson 14 minutes ago
Neurofibromatosis Type 1 NF1 Johns Hopkins Medicine
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