Question: At a dermatological check-up, the doctor was alarmed at the 10 café au lait spots my 18-year-old daughter has on her legs, back and arms, and suspected she has neurofibromatosis. I took her to a specialist for an extensive workup and all was fine. What is our next step? Do the café au lait spots definitely mean she has neurofibromatosis?

Dr. Hibberd's Answer:

Café au lait spots are common. Most of the time they have little immediate significance and do not cause any problems. Having six or more café au lait spots of 5mm or greater before puberty or 15 mm or more after puberty has been associated with neurofibromatosis, but is not definitively diagnostic of this condition without other specific diagnostic criteria. These birthmark-like spots may also be associated with other very rare conditions that include various genetic and endocrine conditions. There is little you can do except to encourage routine health checks with your physician on a regular (i.e. annual or otherwise as recommended) basis for routine health surveillance. Genetic testing generally isn’t useful. There is no point getting upset now. Be proactive with health maintenance, and don’t wait for a disease or condition to appear that may never materialize.