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- W2147202232 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." @default.
- W2147202232 created "2016-06-24" @default.
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- W2147202232 date "2014-07-01" @default.
- W2147202232 modified "2023-09-25" @default.
- W2147202232 title "Is it time to change the neurofibromatosis 1 diagnostic criteria?" @default.
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- W2147202232 doi "https://doi.org/10.1016/j.ejim.2014.04.004" @default.
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