Research
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study
- † Equal contributors
1 Université Paris Est (UPEC), LIC EA4393 (Laboratoire d’Investigation Clinique), F-94010, Créteil, France
2 Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, Service de Dermatologie, Créteil, F-94010, France
3 Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, Pôle Recherche Clinique-Santé Publique, Créteil, F-94010, France
4 Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, Centre de référence des Neurofibromatoses, Créteil, F-94010, France
5 Assistance Publique-Hôpital Paris (AP-HP), Hôpital Necker-Enfants malades, Centre de Référence des Maladies Génétiques à Expression Cutanée (MAGEC) et Service de Dermatologie, Université Paris V Descartes, Paris, F-75015, France
6 The Neurofibromatosis Institute, La Crescenta, CA, USA
7 Service de Dermatologie, CHU Hôtel Dieu, Nantes, F-44200, France
8 Université Paris Est (UPEC), F-94010, Créteil, France
9 INSERM, Centre d’Investigation Clinique 006, Créteil, F-94010, France
10 Assistance Publique-Hôpital Paris (AP-HP), Hôpital Trousseau, Service de Neuropédiatrie, Université Pierre et Marie Curie, Paris, F-75571, France
11 Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, Unité de Recherche Clinique (URC), Créteil, F-94010, France
12 Service de Santé Publique, Hôpital Henri-Mondor, 51 avenue du Maréchal de Lattre de Tassigny, Creteil Cedex, 94010, France
Orphanet Journal of Rare Diseases 2012, 7:62 doi:10.1186/1750-1172-7-62
Published: 3 September 2012Abstract
Objective
To identify clinical characteristics associated with internal neurofibromas in children with NF1, as a means of ensuring the early identification of patients at high risk for malignant peripheral nerve-sheath tumors developed from preexisting internal neurofibromas.
Patients and methods
We used data from two NF1 populations, in France and North America, respectively. The French database comprised 1083 patients meeting NIH diagnostic criteria for NF1 and the Neurofibromatosis Institute Database of North America comprised 703 patients. Patients younger than 17 years of age were eligible for our study if they had been evaluated for internal neurofibromas using computed tomography and/or magnetic resonance imaging. Clinical characteristics associated with internal neurofibromas by univariate analysis (P ≤ 0.15) were entered into a multiple logistic regression model after checking for potential interactions and confounding. Multiple imputation was used for missing values.
Results
Among the 746 children in the two databases, 357 (48%) met our inclusion criteria. Their mean age was 7.7 ± 5.0 years and there were 192 (53.8%) males. Internal neurofibromas were present in 35 (9.8%) patients. Internal neurofibromas developed earlier in females than in males and their prevalence increased during adolescence. Factors independently associated with internal neurofibromas were age (OR = 1.16 [1.07-1.27]), xanthogranulomas (OR = 5.85 [2.18-15.89]) and presence of both subcutaneous and plexiform neurofibromas (OR = 6.80 [1.52-30.44]).
Conclusions
Several easily recognizable clinical characteristics indicate a high risk of internal neurofibromas in children with NF1 and, therefore, a need for very close monitoring.
