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Neurofibromatosis: Signs, Causes and Risk Factors

Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju
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Sandeep Dhanyamraju MD
Medically reviewed by Sandeep Dhanyamraju

Neurofibromatosis is a genetic disorder in which tumors destroy tissue connections. This pathology most affects the skin. But sometimes, the tumor can also affect the bones of patients. The main cause of this disease is a genetic predisposition. Although sometimes it can appear all of a sudden. According to statistics, neurofibromatosis affects one newborn per three and a half thousand. Another name for the neurofibromatosis type is Recklinghausen’s disease

A neurologist makes a diagnosis based on a review of the patient’s current condition. They also look at the results of several tests. Often, doctors, detect neurofibromatosis when two or more of the typical signs are inherent:


  • Large numbers of light brown pigmented spots;
  • Elevated pigmentation;
  • Advanced neurofibromas;
  • Bone abnormalities. 


At present, it is impossible to cure the disease completely. Thus, treatment is symptomatic only. Neurofibromatosis often affects the central and peripheral nervous systems. It causes neurofibromatosis of the auditory nerve and meningiomas. This disease has many risk factors. One of the most dangerous is the disruption of vital body functions. Because it can be fatal. Read more about the causes and symptoms of neurofibromatosis.


What is Neurofibromatosis?

Neurofibromatosis is a group of diseases with typical clinical manifestations. Tumors develop on nerve tissue. It is a result of a series of hereditary diseases called neurofibromatoses. The diseases are accompanied by the appearance of benign, less often cancerous tumors. They affect:


  • Skin;
  • Internal organs;
  • The central and peripheral nervous system;
  • Subcutaneous tissue;
  • Spinal cord roots. 


The German pathologist Friedrich Daniel von Recklinghausen first described neurofibromatosis types. He studied the disease for a long time. 

The cytological nature of neurofibromas is Schwann, nerve, and mast cells. Depending on the stage of the disease, doctors distinguish the following signs of neurofibromatosis:


  • The initial stage is in which flat pigmented spots form on the child’s back and limbs.
  • In the bone changes stage, there is a deformation of the patient’s bone tissue.
  • At the tumor stage, doctors find neurofibromas and gliomas on the skin and soft tissues.
  • At the stage of organic change. There is a disturbance in the functioning of the neighboring organs.


Sometimes juvenile myelomonocytic leukemia accompanies neurofibromatosis in children. It is a malignant disease of the blood and bone marrow. Doctors often have these clinical cases. Although the change of benign neoplasms, doctors diagnose infrequently.

Neurofibromatosis signs

Signs of Neurofibromatosis

Often, the first sign of the disease is flesh-colored spots on the body that resemble coffee and milk. These are not the only symptoms that state neurofibromatosis. As signs of neurofibromatosis are: 


  • Café-au-lait spots;
  • Neurofibromas;
  • Axillary freckling (freckles in the armpit area);
  • Lisch nodules (benign tumors on the iris of the eye);
  • Optic glioma (a tumor of the optic nerve);
  • Macrocephaly (abnormally large head);
  • Short stature;
  • Learning disabilities;
  • Scoliosis (curvature of the spine);
  • Abnormal skeletal changes.

Benign tumors – neurofibromas – can also appear because of which the disease gets its name. The main problem is that such tumors can change and become dangerously malignant. It happens under the influence of certain factors. 

In some cases, neurofibromatosis type manifests only as symptoms of various chronic diseases. Despite this good neurologists can easily determine the diagnosis of the pathology.

All these signs can show such a serious disease as neurofibromatosis. There are main neurofibromatosis types 1 and 2 of this disease. There are also four more types. Read about them further in the article.


I Type

Doctors characterize neurofibromatosis type I by:


  1. Pronounced clinical polymorphism;
  2. A progressive course;
  3. Many organ involvements;
  4. High frequency of complications, including those resulting in death:
  • development of cardiopulmonary failure due to marked skeletal anomalies;
  • malignant degeneration of neurofibromas, etc. 


The variety of somatic mutations in different tumors in type I patients is striking. It is the main difference between neurofibromatosis 1 and 2.  According to the current opinion, it is the reason for the phenotypic polymorphism. Neurofibromas are in the superficial and deep soft tissues of various localizations: 


  • In the axillary regions;
  • On the thighs;
  • On the buttocks;
  • In the deep soft tissues;
  • In the ocular region;
  • Mediastinum, retroperitoneum;
  • On the tongue;
  • On the gastrointestinal tract and other areas. 


They impair the function of neighboring organs when localized in:


  • Mediastinum;
  • Abdomen;
  • Orbit.


They also have an increased risk of malignancy.


II Type

Neurofibromatosis type II results from damage to a gene localized in chromosome 22. People inherit it, like Neurofibromatosis type I, in an autosomal dominant way. You also need to know the difference between neurofibromatosis 1 and 2

Doctors characterize the disease by the presence of various neoplasms in the CNS. Bilateral schwannoma of the vestibulocochlear nerve (VIII cranial nerve) is the most common. It appears even with minimal cutaneous and extraneural symptoms. Also, other concomitant diseases occur:


  • meningiomas;
  • astrocytomas;
  • peripheral nerve lesions, and other types of tumors;
  • cataracts. 


Doctors have not identified any orthopedic abnormalities in type II. Neurofibromatosis type 2 occurs at a rate of 1 per 40,000 to 50,000.


III Type

Type III is like type II in many ways. But an important distinguishing feature is the presence of a neurofibroma. As a rule, they occur on the palms. In this type, the development of symptoms occurs between the ages of 20 and 30.


IV Type

Multiple neurofibromatosis lesions in the skin are typical symptoms of type IV disease. There is a high risk of developing optic nerve glioma and neurolemma. In this type, cutaneous neurofibromas prevail over other manifestations of the disease.


V Type

Neurofibromatosis type V is like type I. Doctors characterize it as unilateral changes. They are typical of neurofibromatosis type I. Since they occur only in one or more segments of the skin. Neurologists believe it results from mutations in the postzygotic stage. 

They are capable of affecting any dermatome. Most cases are sporadic, although physicians have noted familial signs of neurofibromatosis as well. People with other abnormalities are extremely rare. Still, the affected segments can have:



Neurologists divide segmental NFM into four subtypes. Only one of which is genetically determined. Brown-colored patches usually represent skin changes. But eventually, neurofibromas can appear. Other complications of Neurofibromatosis do not occur. The prognosis is favorable.


VI Type

The sixth type of disease has almost no manifestations. The only sign is skin pigmentation. It can be very abundant. As a rule, this type is diagnosed in people aged 20-35. It has the most favorable prognosis. Lethality is extremely low in this type of neurofibromatosis.


Neurofibromatosis Causes

Only two roots of neurofibromatosis causes are accurately known:


  • A hereditary factor;
  • Spontaneous mutation factor.


In the first case, the presence of the disease affects all cells of the body without exception. That is, cellular elements multiply, and tumors appear. Also, the pathology causes serious pigmentation disorders. Many spots appear for no clear reason. Today, this condition is not fully understood. Thus, it is quite difficult to single it out as a separate group.

Multiple neurofibromatosis is an autosomal dominant disease. If a person inherits even one copy of a defective gene, they will still develop the disorder. If only one parent has neurofibromatosis, the children have a 50% chance of the disorder

The severity of the disease can vary depending on the gene’s expression level. About half of the cases of the disease arise through spontaneous mutations. That is, the disease can occur in people who have no family history of the disease. The number of males and females affected by neurofibromatosis is about the same. 


Complications of Neurofibromatosis

In 10% of cases, neurofibromas transform into malignant tumors. The high-risk group includes patients with a long follow-up history. Pregnant women should be wary of signs of neurofibromatosis. Six percent of children have impaired mental development. They have problems mastering learning skills (reading, writing, counting). 

Such children have trouble remembering new information. They also take a long time to adapt to unfamiliar situations. Patients of all ages are susceptible to depression. Because they experience discomfort, shame, and embarrassment due to their disfigured appearance. 

Multiple neurofibromatosis provoke:


  • Endocrine disorders;
  • Epileptic seizures;
  • Muscle hypotonia;
  • Renal and pulmonary artery stenosis;
  • Changes in pigmentation. Increased pigmentation system with the active division of melanocytes. These are cells with a large amount of melanin.  In some patients, the disease may manifest in the presence of characteristic spots. More than five spots of pigment spots with a diameter of 5 to 15 millimeters is a great danger. It is a high probability of having neurofibromatosis types;
  • Pulmonary cysts;
  • Interstitial pneumonia;
  • Clitoral hypertrophy;
  • Risk of thyroid and adrenal tumors;
  • Appearance of tumors in the form of “lumps” under the skin;
  • Bone deformities; 
  • In some cases, neurofibromatosis causes severe mental retardation;
  • Abnormalities in the development of the gastrointestinal organs.


Doctors should check any changes in the appearance, size, and number of neurofibromas. Changes can show malignant tumor growth. The earlier malignant changes are detected, the higher the chance of successful treatment outcomes.

People with NF1 have an increased risk of developing other forms of malignancy in neurofibromatosis types:


  • Breast cancer;
  • Leukemia;
  • Brain tumors;
  • Certain types of soft tissue malignancies.


Risk Factors of Neurofibromatosis

The most common risk factor is nerve exposure to neurofibrosis. Neurofibromas with exophytic growth (outward) cause aesthetic discomfort to the patient, while those growing inward lead to compression of the nerve and surrounding tissues, causing pain. They also threaten to impair the vital functions of the body. 

Patients with neurofibromatosis have an increased risk of developing some forms of malignant tumors. Sometimes, multiple neurofibromatosis leads to death. Doctors considered the most reliable risk factors for deformity progression to be:


  • Cobb angle;
  • Rotation of the apical vertebra more than 11°;
  • The festooned symptom.


The latter can be expressed very roughly, with the formation of the so-called two-toothed beak. Such a vertebral body deformity is a reliable risk factor for the progression of spinal deformity.

Timely contact of parents with a doctor in case of suspected neurofibromatosis in the child allows for early diagnosis of the disease, monitoring of the child according to clinical guidelines, and prescribing treatment if necessary. You can learn more about all stages of the program at a consultation with a geneticist.


A Word from Lone Star Neurologists 

After reading this article, you are more familiar with these neurofibromatosis types. If you find similar symptoms in yourself, contact our Lone Star Neurology clinic. We have the best professionals in the field of neurology. We will be able to advise you and find the most appropriate solution for the problem you have.



  • Is neurofibromatosis painful?

As a rule, this disease does not bring severe pain. But, discomfort is very likely. People with neurofibromatosis can get an education, work, and live a normal life. 

  • Is there a cure for neurofibromatosis?

No, at the moment, there is no cure for this disease. But, people can receive supportive therapy. It is excellent for suppressing symptoms.

  • Can neurofibromatosis be cured?

In some cases, surgery can help. Even though Recklinghausen’s neurofibromatosis is a genetic disease. Thus, if the symptoms of neurofibromatosis interfere with your life, see your doctor as soon as possible.

  • When do symptoms of neurofibromatosis begin?

Most often, clinical signs are café-au-lait spots on the body, in the folds of the knee and elbow joints. They appear in 1-3 months of a child’s life. Further, voluminous skin formations develop. Neurological abnormalities appear or are absent depending on the location of the neoplasm.

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15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
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Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been more
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I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well more
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Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your more
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I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
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It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any more
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Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
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I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going more
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I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my more
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The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to more
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I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 more
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Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his more
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Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best more
Margaret Rowland
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01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my more
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03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
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Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
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00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding more
Ellie Natsis
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15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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