Is it time to change the neurofibromatosis 1 diagnostic criteria?
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.
Section of Dermatology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Via Pace 9, 20122 Milano, Italy.
Gianluca
G
Tadini
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.
Donatella
D
Milani
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.
Francesca
F
Menni
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.
Lidia
L
Pezzani
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy.
Caterina
C
Sabatini
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy. Electronic address: susanna.esposito@unimi.it.
Susanna
S
Esposito
D001847:Bone Diseases / Q000209:etiology; D016514:Genes, Neurofibromatosis 1; D006222:Hamartoma / Q000209:etiology; D006801:Humans; D006972:Hypertelorism / Q000209:etiology; D007499:Iris Diseases / Q000209:etiology; D007859:Learning Disabilities / Q000209:etiology; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D020339:Optic Nerve Glioma / Q000209:etiology; D013064:Speech Disorders / Q000209:etiology
Diagnostic criteria; NF1; Neurocutaneous disease; Neurofibromatosis 1; Rare disease