Neurofibromatosis and Cafe Au Lait spots

My 2 yr. old just had a consult at a Neurocutaneous clinic.  She has 9 greater than or = to 5 mm cafe au lait spots.  She does not meet the other criteria to be diagnosed with NF 1.  We proceeded with blood test and need to have annual eye exam, skin check, scoliosis check and blood pressure check.  However, she is developing very well and everything else is normal or above average.  Nothing to be worried about.  If it isn't NF 1 and we have no genetics to track to explain this, what else can cause the spots?  Can it just be a fluke?  (no one else has spots, no red hair or freckles in family)

I just want to understand if the blood test comes back negative (only 95% accurate) how vigilent do I have to be or is this just a chance event?  

[Alan Rockoff, MD]

In truth, the staff at the neurocutaneous clinic would be better able to answer your questions than I.  Many skin variations of all sorts don't fit into a clear-cut pattern, genetic or otherwise  (a "fluke," as you put it.)  In your daughter's case, you are doing the right thing by consulting experts in the relevant field, but you'll need to turn to them for detailed information such as the reliability of blood test and the need for follow-up to repeat it.

Best.

Dr. Rockoff