Q: My son’s doctor said the rashes on his back were “coffee spots,” and that meant he may have some kind of nerve disease. We see the specialist in a couple of weeks, but I am hoping you can tell me something about this.

Dr. Jeff Hersh: ‘Coffee spots' could be a sign of neurofibromatosis

By Dr. Jeff Hersh

More Content Now

Q: My son’s doctor said the rashes on his back were “coffee spots,” and that meant he may have some kind of nerve disease. We see the specialist in a couple of weeks, but I am hoping you can tell me something about this.

A: From your description it sounds like your pediatrician noted cafÈ-au-lait spots and suspects neurofibromatosis (NF), so that is what I will discuss in todayís column. Please verify with your pediatrician that this is the correct diagnosis. NF is a disorder that can cause tumors (most often benign, but sometimes malignant) of the nervous system.

There are three types of NF, but I will concentrate on type one (NF1) in todayís column since this is by far the most common type; it affects about 1 in 2,500 children, whereas the other types (NF2 and Schwannomatosis) affect less than 1 in 25,000 children.

NF1 is due to a defect in one of the genes on chromosome 17. This gene code for the protein neurofibromin helps regulate the growth of nerve cells. When it is abnormal, the nerve cells may grow in an uncontrolled fashion, hence causing the growth of tumors. The abnormal gene that causes NF1 is inherited in about half the cases and occurs spontaneously in about half the cases.

Patients with NF1 are usually identified in childhood when one or more of the characteristics of the condition begin to manifest. These characteristics include:

ï More than six cafÈ-au-lait spots: having a few of these harmless brown skin lesions (the color of coffee with milk, hence the name) is extremely common (a quarter of people have between one and three cafÈ-au-lait spots), but having more than six is very suggestive of NF1.

ï ìFrecklingî of the skin of the armpits or groin area: the name freckling is a bit misleading since this is NOT the classic freckles so many people have.

ï Two or more neurofibromas: These are benign tumors and feel like small ìlumpsî under the skin.

ï Two or more Lisch nodules: These are tiny bumps of the colored part of the eye (the iris).

ï Certain bony deformities.

ï A family history of NF1.

ï Tumor of the optic nerve (called an optic glioma).

Having any one of these findings triggers a suspicion of NF1, and having two or more are enough to make the diagnosis of NF1.

Once NF1 is diagnosed, certain evaluations and tests may be done to look for other manifestations of the disease. This will include a thorough physical examination with special focus on blood pressure, skin, ears, growth (including checking for early puberty), learning and memory development (including evaluation of how the child is doing in school) and the eyes (often by a specialist). Imaging may be indicated, such as an MRI to look at the brain/optic nerves and/or X-rays of any bones suspected of having an abnormality.

This evaluation will need to be done on a regular basis (at least yearly, although some experts recommend more frequent screening in some cases), as different aspects of NF1 may manifest at different times for individual patients.

Patients with NF1 may have complications possibly including short stature, learning disabilities, seizures, cognitive dysfunction, increased incidence of autism, vision problems (for example as a complication of an optic glioma), high blood pressure, large head size (when corrected for their age, weight and height) and/or certain cancers (less than 10 percent of NF1 patients develop a malignant tumor from their condition). Overall life expectancy in patients with NF1 is decreased compared to the general population, with expected median life expectancy of about 60 years old for NF1 patients compared to about 74 for the general population.

Treatment must be individualized for each patient, and is determined by what, if any, symptoms and/or complications they develop; treatments may include surgery, medications and/or supportive care. For this reason it is important that NF1 patients be followed by a team of healthcare providers that have experience and expertise with this condition.

Because NF1 may be an inherited condition, counseling of the family (and the child when they grow to adulthood) is an important aspect of care. Very close evaluation of siblings is also indicated.

Jeff Hersh, Ph.D., M.D., can be reached at DrHersh@juno.com.