RELATIONSHIP BETWEEN CAFE-AU-LAIT SPOTS AS THE ONLY SYMPTOM AND PERIPHERAL NEUROFIBROMATOSIS (NF1) - A FOLLOW-UP-STUDY

We re-examined 21 children with the possible diagnosis of peripheral n eurofibromatosis (NF1) based on the presence of cafe-au-lait (CAL) spo ts as the single clinical finding. We evaluated whether ''typical'' or ''atypical'' appearance of the spots was important for the final diag nosis and whether the co-existence of other non-specific signs (e.g. p ectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with ''typical'' CAL spots, the diagnosis of NF1 wa s finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on th e basis of the presence of macrocephaly, pectus excavatum and/or MRI f indings. Only one patient among five with ''atypical'' CAL spots possi bly has NF1.