iNFocus

The Washington University Neurofibromatosis (NF) Center, along with our colleagues in Team NF, are excited to a new informational feature for our families.  iNFocus is designed to update our families about advances in NF research and clinical practice, and to address commonly asked questions about NF1 and NF2.

Each month we will post a new question and answer on the iNFocus page. We welcome your feedback and suggestions for future themes and questions.

Please contact Taylor Ferguson to submit your ideas for future themes or questions.

Learn more about our first annual NF Symposium!

 

May 2012

Will NF1 turn into NF2?

Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are very different medical conditions.  People with NF1 typically have café-au-lait macules, skinfold freckling, Lisch nodules, whereas these features are far less common or absent in people with NF2.  In addition, the types of tumors people with NF1 can develop are distinct from those encountered in people with NF2.  For example, children with NF1 may develop optic gliomas (brain tumors affecting the nerve that carries vision from the eye to the brain), but do not develop meningiomas (brain tumors arising from the lining of the brain) or vestibular schwannomas (brain tumors affecting the nerve that carries hearing and balance).  For this reason, people with NF1 do not progress to NF2, and people with NF2 do not develop NF1.  They are completely different conditions.

 

April 2012

How can you tell if I have NF1?

Your NF specialist will perform a detailed examination to determine whether you or your child has NF1.  The diagnosis of NF1 is established based on a list of very specific features, which include café-au-lait macules, skinfold freckling, Lisch nodules, neurofibromas, optic glioma, bone abnormalities, and the presence of a family member with NF1.  If your NF specialist finds two or more of these features, the diagnosis of NF1 will be given.

 

March 2012

Will the spots turn into tumors?

Café-au-lait macules are areas of increased skin coloration.  Unlike other dark skin patches in adults (called nevi), these do not turn into tumors.  If you or your child has a dark, raised patch, you should see a dermatologist.

 

February 2012

Can my kids inherit NF1 if I don’t have it?

While NF1 is a genetic condition, there may not be anyone else in the family with NF1.  Half of the time, a child will be the first person in the family with NF1.  Your NF specialist will take a detailed family history and examine both parents to make sure that neither parent has NF1.  Sometimes, the signs of NF1 can be subtle in an adult, especially if the café-au-lait macules have faded.  Once a person has been given the diagnosis of NF1, there is a fifty-fifty chance with each pregnancy that the new baby will have NF1.  For this reason, an infant born to a parent with NF1 should be examined during the first six months of life.

 

January 2012

Do I need an MRI?

MRI stands for Magnetic Resonance Imaging.  It is predominantly used to find tumors in people with NF1.  However, finding a tumor does not mean that it needs to be treated immediately.  NF specialists recommend MRI scans when a brain tumor or plexiform neurofibroma is suspected.  These scans are not obtained as part of a routine evaluation of children with NF1, and are most effectively used when there is concern about a specific medical problem.

 

December 2011

Does the shape and color of the CALM’s matter?

Café-au-lait macules are typically a bit darker than the surrounding skin.  In Caucasians, they will appear as lightly colored spots, while in African-American children, they will be darker.  Very darkly colored birthmarks may not be café-au-lait macules.  Your NF doctor or nurse will know whether you should see a dermatologist to have these birthmarks evaluated.  The shape of the café-au-lait macules may also be important.  In a recent study by Dr. Kara Nunley at the Washington University School of Medicine, typical birthmarks with smooth borders were more often seen in children with NF1.  Whenever a child has several café-au-lait macules in infancy or early childhood, they should be seen by a specialist experienced in the care of people with NF1.

 

November 2011

If a person does not have features of NF1 in childhood, can he/she later develop features and be diagnosed in adolescence or adulthood?

It is very unusual to develop features of NF1 for the first time as an adult.  As children mature, new features of NF1 may be found.  These features include freckling in the armpits and groin (diaper) region, small lumps and bumps (benign neurofibromas), larger plexiform neurofibromas, and colored spots on a part of the eye called the iris (Lisch nodules). For this reason, all children in whom the diagnosis of NF1 is suspected should be examined by a doctor or nurse experienced in NF1.

 

October 2011

Do people with NF1 ALWAYS have café-au-lait spots?

Café-au-lait macules refer to the birthmarks seen in people with NF1, and are the single most common feature of NF1.  They are frequently first found in young children and can darken during the summer months when children play outside.  As people get older, café-au-lait macules can fade, and may be difficult to see in adults.  For this reason, we use a special lamp called a Wood’s lamp to find these birthmarks in adults.  While it is possible to have NF1 without café-au-lait macules, it is very rare.  Some people with NF1 affecting the spine only (spinal neurofibromatosis) may lack café-au-lait macules.

 

September 2011

Do people with NF1 have lower IQs than general population?

IQ or Intelligence Quotient is a measure of a person’s cognitive ability, and can be influenced by a number of medical and psychological problems.  Researchers have found that children with NF1 on average have lower IQ scores than their unaffected brothers and sisters; however, there is a large range of IQ scores in children with NF1.  While true mental retardation is rare, specific learning deficits, attention problems, and motor skill delays are common in children with NF1.  Each of these problems can affect performance on the IQ test and result in a lower than average IQ score.  When your child is seen in the NF Clinical Program at St. Louis Children’s Hospital, you may be asked to participate in a study to learn more about attention deficits in children with NF1.  The results of this study should help us determine how attention problems affect learning, and may lead to better treatments for these problems in NF1.

 

August 2011

Are people with NF1 shorter than average?

There are a number of reasons that people with NF1 may be shorter than their peers.  First, children born to parents who are short are typically also shorter than average. This is the most common reason for short stature.  Second, curvature of the spine (scoliosis) can cause a person to be shorter.  Third, some children with NF1 who are short may have lower levels of brain hormones that control growth.  When your child is seen in the NF Clinical Program at St. Louis Children’s Hospital, you will be asked to participate in a study to determine the reasons for short stature in children with NF1.  What we learn from this study may help us determine the reason for reduced height and, when appropriate, find personalized treatments for children with NF1 and short stature.