Neurofibromatosis Symptoms You Shouldn't Ignore

ByAgkidzone Staff

Updated: Oct 25, 2024

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Neurofibromatosis is a genetic condition that causes tumors to grow on nerves throughout the body, including the skin and nervous system. It's usually diagnosed in children or young adults. There are three types: NF1, NF2, and schwannomatosis. Types 1 and 2 are inherited from parents. Symptoms can show up at birth or become noticeable in early childhood. While this condition affects multiple body systems and requires care from various specialists, dermatologists often play a key role in spotting it first and guiding patients to the right care.

Café au Lait Spots

One of the first signs of NF1 is the appearance of café au lait spots—flat, light brown patches on the skin that resemble the color of coffee with milk. While many people might have one or two of these spots, having more than six can be a sign of NF1. In children, these spots are usually larger than a quarter-inch (5 mm), and in teens, they're bigger than half an inch (15 mm). If you notice multiple spots like these on a child, it's a good idea to consult a doctor.

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Freckling in Skin Folds

Another common symptom is freckling in areas not usually exposed to the sun, like the armpits and groin. This freckling typically appears between ages three and five. These tiny freckles might also show up on the neck, under the breasts, around the lips, and on the torso. Unlike regular freckles caused by sun exposure, these appear in covered areas and can help doctors diagnose NF1.

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Learning Difficulties

About half of the people with NF1 have learning difficulties. Parents often worry about their child's performance in school. Studies show that children with NF1 may struggle with math and reading and are more likely to have Attention-Deficit Hyperactivity Disorder (ADHD). The good news is that early support and intervention can make a big difference in helping these kids succeed academically and socially.

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Bone Problems

Bone issues, such as a curved spine (scoliosis), are common in people with neurofibromatosis. Around 10% develop scoliosis, usually by age ten. If doctors detect signs of a curved spine, they may refer the child to an orthopedic specialist. Other bone problems can appear within the first year of life, like bowing of the shinbone (tibia). Individuals with NF1 might also have a larger head size, a prominent forehead, and be shorter than average.

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Optic Nerve Tumors

Some people with NF1 develop tumors on the optic nerve, called optic gliomas. These slow-growing tumors affect about 15-20% of individuals with NF1 and often appear around age three. Symptoms can include bulging of the eye (proptosis), vision problems, and sometimes early puberty (especially after age six). Early detection is crucial because these tumors can impact vision development.

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Skin Tumors (Cutaneous Neurofibromas)

Another hallmark of neurofibromatosis is the growth of neurofibromas—soft, benign tumors on or under the skin. Cutaneous neurofibromas are small, dome-shaped bumps that can be skin-colored or darker. Subcutaneous neurofibromas are firmer and located deeper under the skin. These tumors usually don't appear until puberty and may increase in size and number during adulthood. They can also grow more rapidly during pregnancy, so monitoring is important.

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Painful Finger Tumors (Glomus Tumors)

Glomus tumors are small, painful growths that often develop under the fingernails. They appear as blue-red nodules and are linked to temperature regulation issues. People with these tumors experience significant pain and sensitivity to cold. Surgical removal can relieve the pain and improve function.

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Nerve Tumors (Schwannomatosis)

Schwannomatosis is a form of neurofibromatosis characterized by the growth of benign tumors called schwannomas on nerves throughout the body. These tumors can cause significant pain, numbness, weakness, and muscle loss, depending on their location. The pain can be severe enough to require surgery or specialized pain management. Early diagnosis and treatment are essential to manage symptoms effectively.

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Hearing Loss

In some types of neurofibromatosis, especially NF2, tumors can grow on the nerves that carry sound and balance information from the inner ear to the brain. This can lead to hearing loss, ringing in the ears (tinnitus), balance problems, and headaches. Symptoms usually appear in early adulthood. Recognizing these signs early can help preserve hearing and improve quality of life through appropriate interventions.

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Persistent Itching

Many people with neurofibromatosis experience widespread itching on the skin and around tumors. While the exact cause isn't fully understood, it's thought to be due to the release of histamine from certain cells in the tumors. This itching can be uncomfortable and affect daily life, but treatments are available to help manage it.

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