Is it time to change the neurofibromatosis 1 diagnostic criteria?

Gianluca Tadini, Donatella Milani, Francesca Menni, Lidia Pezzani, Caterina Sabatini, Susanna Esposito

Research output: Contribution to journalArticlepeer-review

Abstract

Neurofibromatosis 1 is a complex inherited neurocutaneous disease that is often difficult to diagnose early because of its age-dependent presentation. The diagnosis is also extremely difficult to communicate to patients and their parents because of the disease's clinical variability, unpredictable evolution, and uncertain prognosis. Since 1988, the year of publication of the last Consensus Conference statement concerning the diagnosis of neurofibromatosis 1, our understanding of the disease has naturally increased and, in addition to the availability of increasingly precise molecular analyses, some new clinical signs have been reported such as anaemic nevi, unidentified bright objects, choroidal hamartomas, and a typical neuropsychological phenotype. We critically review the current diagnostic criteria, and suggest the addition of new signs on the basis of published findings and our own clinical experience. This proposal aims to improve diagnostic power in paediatric age, securing a better and more reliable healthcare transition toward adult age. We finally recommend a new Consensus Conference in order to revise the diagnostic criteria, possibly differentiated by age of presentation.

Original languageEnglish
Pages (from-to)506-510
Number of pages5
JournalEuropean Journal of Internal Medicine
Volume25
Issue number6
DOIs
Publication statusPublished - 2014

Keywords

  • Diagnostic criteria
  • Neurocutaneous disease
  • Neurofibromatosis 1
  • NF1
  • Rare disease

ASJC Scopus subject areas

  • Internal Medicine
  • Medicine(all)

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