title: Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): a follow-up study.
abstract: We re-examined 21 children with the possible diagnosis of peripheral neurofibromatosis (NF1) based on the presence of café-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 non-specific 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.
authors.affiliation: Clinica Pediatrica, Università degli Studi, Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Fois
authors.forename: L
authors.initials: L
authors.lastname: Calistri
authors.forename: P
authors.initials: P
authors.lastname: Balestri
authors.forename: R
authors.initials: R
authors.lastname: Vivarelli
authors.forename: G
authors.initials: G
authors.lastname: Bartalini
authors.forename: L
authors.initials: L
authors.lastname: Mancini
authors.forename: A
authors.initials: A
authors.lastname: Berardi
authors.forename: M
authors.initials: M
authors.lastname: Vanni
mesh_terms: D001932:Brain Neoplasms / Q000150:complications / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D010859:Pigmentation Disorders / Q000209:etiology*