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Acta Biomed Ateneo Parmense. 2000;71(3-4):83-7.

[Care recommendations for type 1 neurofibromatosis].

[Article in Italian]

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  • 1Ambulatorio di Genetica Clinica, U.O di Pediatria, Arcispedale S. Maria Nuova, Reggio Emilia.


Neurofibromatosis type 1 (NF1) is a progressive, multisystem disorder affecting about 1:3000 individuals. About one third of patients show serious complications and about one half are mildly affected. Since the original National Institutes of Health Consensus Conference in 1987, that established the clinical criteria for the diagnosis of NF1, there has been significant progress toward a more complete understanding of the molecular bases for NF1, and our knowledge of the natural history and management of the NF1 has significantly improved. Despite these advances, the diagnosis of NF1 is still based largely on clinical criteria and no individual prognostic evaluation or definitive medical therapy are available. The recommendations for the care of NF1 patients and their families are constantly changing: according to the new guidelines, the mainstay of management is anticipatory guidance and surveillance for treatable complications; surveillance usually includes annual follow-up visits, unless symptoms call for more frequent visits or more accurate diagnostic evaluation.

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