Neurofibromatosis: Causes, Symptoms And Ways To Manage It

Neurofibromatosis is a genetic disorder with symptoms that usually surface later in life. In some cases it can manifest during infancy and early childhood, causing widespread damage to the body. But what is neurofibromatosis, and what leads to the condition? Read this MomJunction article for all the information about neurofibromatosis, its causes, symptoms, and treatment procedures.

What Is Neurofibromatosis?

Neurofibromatosis, also called NF, is a genetic disorder that leads to the formation of tumors on the nerves or below the skin. The tumors appear as bumps or large boils on the skin and can even appear on other parts of the body. These tumors are benign or non-cancerous in most cases (1).

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What Causes Neurofibromatosis?

The fundamental cause of neurofibromatosis is faulty genes. Parents with neurofibromatosis have the highest chance of passing the defective gene to their baby. A spontaneous gene mutation can also lead to the development of the disease, which is prevalent in cases without any family history of neurofibromatosis. The symptoms of NF may vary based on the type of NF the child has.

[ Read: Sandifer’s Syndrome In Babies ]

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What Are The Types Of Neurofibromatosis?

There are three types of NF, which are discussed next (2):

1. Neurofibromatosis-1

• Also called NF-1 and von Recklinghausen disease, it is the most common type of neurofibromatosis. It affects one in 3000-4000 people.
• This disease can occur due to an inherited defective gene, which means one of the parents has the condition. The gene transfer is autosomal dominant, which means even if one parent has the faulty gene and the other is healthy, the child has 50% chance to get the disease.
• A direct inheritance of the gene happens in 50% of cases. The remaining 50% is due to genetic mutations in the parents’ gametes (sperm and ovum), which leads to the formation of the new defective gene that causes NF-1. In such scenarios, the baby will be the first in the family to carry the defective gene within the cells of their body (3).
• Malignant tumors are uncommon in children but are not uncommon in adolescents and adults with NF1, with an approximate lifetime risk of 10% (4).

2. Neurofibromatosis-2

• Referred to as NF-2 or bilateral acoustic neurofibromatosis, this type is rarer than NF-1 and affects about one in 25,000-50,000 people.
• Symptoms of NF-2 do not manifest up to the age of 18. The first symptoms are usually evident between the ages of 18 to 22 years. But the age range covers the entire life span, to include congenital forms in infancy through the elderly.
• NF-2 further affects the eight cranial nerve, which can lead to problems in hearing, loss of balance, and even seizures.
• Most cases of NF-2 are due to gene mutations in the gametes although some experts state that 50% cases can be due to the direct inheritance of the defective gene from the parent (5), making the baby the first person in the family to have neurofibromatosis.

3. Schwannomatosis

• It is the rarest type of neurofibromatosis. It is a recent medical discovery compared to NF-1 and NF-2.
• Symptoms are mostly similar to NF-1 and NF-2, but the most characteristic feature is the pain. Schwannomatosis tumors, which are called schwannomas, are extremely painful and will require surgical removal at some point in life.

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What Are The Symptoms Of Neurofibromatosis?

The following are the symptoms of each type of neurofibromatosis:

Symptoms of neurofibromatosis-1

1. Café-au-lait birthmark: One of the earliest symptoms of the condition is the presence of the light brown café-au-lait birthmark. It is pronounced as “cafay oh lay,” and is French for coffee with milk. The birthmark occurs due to a congregation of skin pigment and can happen anywhere on the body (6). Café-au-lait birthmark co-occurs with NF-1 almost 100% of the time. Six or more café-au-lait spots greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal.

2. Freckles: Freckles that appear in clusters in the armpits and the groin region.

[ Read: Symptoms Of Hydrocephalus In Babies ]

3. Lisch nodules: Pigmentation of the iris muscles. It is the development of brown or black spots in the colored part of the eye. The aggregation of pigments is called Lisch nodules and is easier to spot among children with light-colored eyes.

4. Neurofibromas: The large pinkish or brownish lesions on the body, which are the tumors, are called neurofibromas. They begin as small bumps on the body and gradually increase in size. They have a rubbery feel to them when touched. Neurofibromas may not seem to cause any discomfort to the child but may be painful when pressed. A child with NF may not have these bumps during infancy but will certainly display them by the age of two or three years.

5. Plexiform neurofibromas: These are similar to the neurofibromas, but mostly occur in nerve cells around the eyes, ears, or other parts of the face. They often cause the loosening and drooping of the skin. Plexiform neurofibromas are usually present in the first year of life, unlike neurofibromas that emerge later.

6. Bone abnormalities: Deformation of the bone and parts of the skeleton. A typical example is scoliosis, which is the abnormal curving of the spine.

7. Eye growths: Growths/tumors within the eyes can interfere with vision. About 15% of people with NF-1 will develop tumors in the nerves within the eyes.

8. Problems with the brain: The baby may experience headaches and migraines. In rare cases, the baby may also develop seizures and epilepsy.

9. Problematic neurological development: Some children have issues with their neurological development and thus will have behavioral and learning problems. They may also display a behavior deviant from that of their peers. It is quite common for children with NF-1 to have attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) (7).

10. Circulatory system problems: The child may develop problems of the circulatory system. High blood pressure is one condition that is quite likely to occur among those with NF-1.

Symptoms of neurofibromatosis-2

Most symptoms of NF-2 are similar to that of NF-1. Symptoms of NF-2 appear around late teens or earlier in some cases. Neurofibromas are present even in NF-2. The following are the unique symptoms of NF-2:

1. Ear problems: Tumors on the auditory nerve called acoustic neuromas affect hearing and may even lead to hearing loss. The child may also experience tinnitus, a condition where one continually hears a buzzing or ringing noise.

2. Tumors of the central nervous system: Tumors can also develop on parts of the central nervous system, which includes the brain and spinal cord. Tumors may also be present on the membrane that covers the brain and the spinal cord.

3. Eye problems: Cataracts may form at a young age. Benign eye tumors that impede vision may also develop.

4. Nerve damage: Degeneration in the nerves across the body that affects overall motor and sensory functions of the body.

5. Learning and developmental delays: The child will have trouble with communication, and unlike healthy children, will not understands several words and instructions. There will also be problems with vision, taste, and smell.

[ Read: Signs Of Down Syndrome In Babies ]

3. Symptoms of schwannomatosis

The symptoms of schwannomatosis are quite similar to that of NF-2 and NF-1. The critical difference is that patients with schwannomatosis do not develop multiple neurofibromas lesions on their skins. There is also an absence of auditory nerve tumors in patients with schwannomatosis.

Symptoms of schwannomatosis typically emerge during adulthood, between the ages of 25 and 30, or earlier in some cases. Additional symptoms observed in schwannomatosis include (8) (9):

1. Painful tumors on the nerve cells: The characteristic feature is the chronic pain in a tumor. The tumor grows on the nerve cells, but presses on the surrounding tissues thus causing severe discomfort. Tumors are externally visible as one large lump at the affected region.

2. Tingling and numbness: Since nerves and their surrounding tissue are impacted, the child will experience tingling and numbness especially around the limbs.

The symptoms of neurofibromatosis are easily visible, so it is quite likely parents will spot the condition soon.

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How Is Neurofibromatosis Diagnosed?

A doctor will employ multiple steps of assessment to accurately diagnose neurofibromatosis (10) (11) (12):

1. Symptomatic assessment: The first step is to check for the symptoms of the disease and other indicators. For instance, the presence of more than six café-au-lait spots points towards neurofibromatosis-1. Excessive freckles concentrated in underarms and the groin region are other signs of the disease. Hearing problems point towards neurofibromatosis-2 and lack of widespread lesions on the body, but a single giant lesion can indicate schwannomatosis.

2. Family history: The doctor will check family medical history to know if any other member of the family has the condition.

3. Biopsy: The doctor collects a sample of tissue from the lesion for laboratory testing, to determine if the tumor is benign or malignant (cancerous).

4. MRI scan: A magnetic resonance imaging scan or MRI scan creates a three-dimensional picture of the internal organs of the body. It allows the doctor to see neurofibromas within the body, around the nerves and the central nervous system. It helps in an accurate diagnosis when compared to symptomatic assessment.

5. Genetic testing: It is the ultimate diagnostic tool to determine the presence of the disorder. Blood and saliva samples from the child are analyzed for the presence of the faulty gene. Genetic testing of parents may also be required to determine if any parent is the carrier of the genetic mutation.

Diagnosis is followed by treatment, which we discuss next.

[ Read: What Causes Autism In Babies ]

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How Is Neurofibromatosis Treated?

There is currently no cure for neurofibromatosis, but there are steps to medically manage the disorder (13) (14). The following are the main steps of management that can help mitigate discomfort and other complications associated with the disease:

1. Special help to develop skills: Infants and toddlers with neurofibromatosis may face challenges in achieving developmental milestones and skills. It could lead to learning disabilities. Early intervention by imparting skills through therapists and special channels can help the child have a healthy cognitive function. It may not treat the disease but can alleviate the shortcomings caused by neurofibromatosis.

2. Surgical removal of some neurofibromas: Neurofibromatosis-1 causes several lesions on the body, which cannot all be removed. However, if a neurofibroma lesion causes pain and severe complications, then it may have to be surgically removed.

Surgery can be effective, but it may lead to scarring (15). Removing tumors from areas close to the brain and auditory nerve may cause permanent damage to the surrounding tissue (16). Therefore, surgery may be the last resort in situations where the benefits outweigh the risks.

3. Laser and radiation therapy: Laser therapy allows removing the tumor with minimal surgical invasion. Radiation therapy can help reduce the size of the tumors and can be useful in cases where the neurofibromas are cancerous. These methods may be considered depending on the age and health of the child while also considering the overall severity of the neurofibromatosis.

4. Hearing aids: Hearing aids and cochlear implants can help improve hearing ability and even restore hearing among individuals that have lost their hearing due to an auditory neurofibroma.

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How To Prevent Neurofibromatosis?

You cannot prevent the onset of neurofibromatosis (17). Prenatal diagnostic tests help determine if the fetus has the problem and are crucial for parents affected by or with a family history of the condition. Parental genetic testing before conceiving also helps you learn about the presence of the genes that cause neurofibromatosis.

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What Is The Life Expectancy Of Those With Neurofibromatosis?

The prognosis of neurofibromatosis depends on a number of factors, including age of symptom onset, number and location of various tumors. But usually the life span is slightly less than normal population (18). The symptoms may cause hindrance to day-to-day life. But appropriate modifications to lifestyle and educating the family members/caretakers allows neurofibromatosis patients to live a normal and fulfilling life.

Neurofibromatosis is a lifelong condition. But proper management can help the child live a healthy life with little interference from the disorder. NF patients need regular visits to the doctor to check the prognosis and prevent the onset of complications. Make sure you do not miss any of these appointments to ensure your baby grows healthy, with minimal impact from neurofibromatosis.

[ Read: Turner Syndrome Symptoms In Babies ]

Do you have any experiences to share? Tell us about them in the comments section below.

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Rohit Garoo

 

Rohit Garoo is a writer-turned-editor with over 9 years of experience in content writing, editing, and content marketing. He did his bachelors in Science at St. Xavier's College, Hyderabad, and masters in Business Administration at Osmania University.

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