What is segmental NF1?

Segmental NF1 - Individuals with segmental NF1 most commonly have the skin findings associated with NF1, such as café-au-lait spots, skin fold freckles, or neurofibromas, confined to a certain area (for example, only an arm or only a restricted area of the back).

What causes segmental neurofibromatosis?

Segmental neurofibromatosis (NF) is generally thought to result from a postzygotic NF1 (neurofibromatosis type 1) gene mutation.

How common is segmental neurofibromatosis?

Neurofibromatosis is a common disorder that affects approximately 1 in 3000 persons [1]. Segmental neurofibromatosis is a rare form of the disease in which the cutaneous and neural changes are confined to one region of the body.

What are the different types of NF1?

There are two major types: neurofibromatosis type I (NF1) and neurofibromatosis type II (NF2). NF1 manifests itself at birth or during early childhood. NF1 is characterized by multiple light brown (café-au-lait) spots concentrated in the groin and underarms and benign tumors under the skin.

Can you live a normal life with NF1?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.

Ask Kate! Segmental NF and Mosaic NF

Does NF1 get worse with age?

Typically, adults with NF1 will develop more neurofibromas over time. They may grow for a period of time and then stop growing. In addition, they may change in shape or color as they grow. Sometimes, they can also be associated with itching or slight discomfort when bumped.

Is NF1 considered a disability?

Although neurofibromatosis is a serious condition, the Social Security Administration (SSA) does not specifically list the disorder as a disability. But, the symptoms that accompany the condition can be reviewed for benefits.

Is NF1 serious?

The symptoms of neurofibromatosis type 1 (NF1) are often mild and cause no serious health problems. But some people will have severe symptoms. The symptoms of NF1 can affect many different areas of the body, but it's unlikely someone will develop all of them.

Can NF1 tumors be removed?

If cancerous tumors develop with neurofibromatosis—for example, malignant plexiform neurofibromas, which can develop in the arms, legs, or trunk—they can also be surgically removed. For cancerous tumors, surgery may be combined with other treatments for cancer.

Can you be a carrier of NF1 and not have it?

NF does not skip generations which means you cannot be a carrier if you do not have it, even if one or more parents have NF. NF1 and NF2 are therefore said to have “complete penetrance”.

Is segmental neurofibromatosis genetic?

How is a diagnosis of segmental NF made? Both NF1 and NF2 are genetic conditions; NF1 is due to a mutation in the NF1 gene, whereas NF2 is due to a mutation in the NF2 gene.

When do NF1 tumors appear?

These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults. Learning disabilities. Impaired thinking skills are common in children who have NF1 but are usually mild.

Can NF1 skip a generation?

Only one parent need be affected to cause a child to have NF1 (autosomal dominant inheritance). NF1 does not skip generations. Sporadic or random pathogenic variants in the gene responsible for NF1 account for the remaining 50% of cases and occur when a child has NF1 but neither parent does.

Who is most likely to get neurofibromatosis?

The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.

Can you have NF1 with no symptoms?

What Are the Signs & Symptoms of Neurofibromatosis Type 1? Most newborns with neurofibromatosis type 1 have no symptoms, but some have curved lower leg bones. By their first birthday, most children with NF1 have several skin spots, called café-au-lait ("coffee with milk") spots because of their color.

What are the 3 types of neurofibromatosis?

Is there a cure coming soon for neurofibromatosis?

Neurofibromatosis can be treated and managed, but there is no cure. MSK recently launched a neurofibromatosis center to improve the treatment of this disease. Neurofibromatosis is a genetic disorder that often leads to tumors throughout the nervous system, including the brain, spinal cord, and nerves.

Is NF1 curable?

There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

Does everyone with NF1 get neurofibromas?

Most people with NF1 will develop regular neurofibromas, but only a third of all people with NF1 will have a plexiform neurofibroma. You may want to ask your doctor if any of your tumors are a plexiform, so you know the difference.

Can you have café-au-lait spots and not have NF1?

Can you have café-au-lait spots without having neurofibromatosis? Yes. It is very common for people to have a few café-au-lait spots on their bodies without having an underlying condition like neurofibromatosis type 1 (NF1).

Is NF1 an autoimmune disease?

Discussion. Neurofibromatosis type 1 is a relatively common autosomal dominant disorder. It is well known that NF1 patients have an increased risk of developing a variety of benign and malignant tumors, but its association with autoimmune diseases has been rarely reported (1-3).

How is NF1 diagnosed?

Your child's doctor will look for signs of NF1 in your child's skin, eyes, bones or brain. The second method is genetic testing, also called a molecular or DNA diagnosis. Your child will need to give a blood sample. A lab will check the sample for a change (mutation) in the NF1 gene.

Does NF1 affect memory?

Attention and executive functions appear to also be compromised in individuals with NF1, which are a factor in difficulties in receptive language, memory, academic skills, and adaptive skills.

Does NF1 weaken immune system?

Although it has not been thoroughly studied in NF1, the high concentrations of cytokines found in the serum of NF1 patients may alter immune function in favor of immune suppression and tumorigenesis.

Does neurofibromatosis cause behavior problems?

The most common complications of NF1 are cognitive and behavioral deficits. Up to 80% of children with NF1 experience cognitive and behavioral difficulties involving different domains.