Abstract
We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of cafè-au-lait (CAL) spots as the single clinical finding. We evaluated whether “typical” or “atypical” appearance of the spots was important for the final diagnosis and whether the co-existence of other nonspecific signs (e.g. pectus excavatum) were of any significance for the final diagnosis. In 8/14 (57.1%) cases with “typical” CAL spots, the diagnosis of NF1 was finally established on the basis of other criteria. For the other 6 patients the diagnosis is not yet definitive but highly probable on the basis of the presence of macrocephaly, pectus excavatum and/or MRI findings. Only one patient among five with “atypical” CAL spots possibly has NF1.
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Abbreviations
- CAL:
-
cafè-au-lait
- NF1:
-
peripheral neurofibromatosis or neurofibromatosis type 1
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Fois, A., Calistri, L., Balestri, P. et al. Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study. Eur J Pediatr 152, 500–504 (1993). https://doi.org/10.1007/BF01955059
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DOI: https://doi.org/10.1007/BF01955059