s'authentifier
version française rss feed
Fiche concise
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.
Sbidian E., Hadj-Rabia S., Riccardi V., Valeyrie-Allanore L., Barbarot S., Chosidow O., Ferkal S., Rodriguez D., Wolkenstein P., Bastuji-Garin S.
Orphanet Journal of Rare Diseases 7, 1 (2012) 62 - http://www.hal.inserm.fr/inserm-00748122
 (22943186) 
Clinical characteristics predicting internal neurofibromas in 357 children with neurofibromatosis-1: results from a cross-selectional study.
Emilie Sbidian1, 2, 3, Smaïl Hadj-Rabia4, Vincent Riccardi5, Laurence Valeyrie-Allanore1, 2, 6, Sébastien Barbarot7, Olivier Chosidow2, Salah Ferkal6, 8, Diana Rodriguez9, Pierre Wolkenstein1, 2, 6, Sylvie Bastuji-Garin () 1, 3, 6, 10, 11
1 :  LIC - Laboratoire d'Investigation Clinique
Université Paris-Est Créteil Val-de-Marne (UPEC) : EA4393
Service de santé publique CHU Henri Mondor 94010 Créteil Cedex
France
2 :  Service de Dermatologie
Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)
51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil
France
3 :  Pôle Recherche Clinique-Santé Publique
Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)
51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil
France
4 :  Service de Dermatologie
Hôpital Necker - Enfants Malades – Assistance publique - Hôpitaux de Paris (AP-HP) – Centre de Référence des Maladies Génétiques à Expression Cutanée (MAGEC) – Université Paris V - Paris Descartes
149 Rue de Sèvres 75015 Paris
France
5 :  Internal Medicine, Clinical Genetics & Clinical Cytogenetics
The Neurofibromatosis Institute
5415 Briggs Avenue, La Crescenta, California 91214-2505
États-Unis
6 :  Centre de référence des Neurofibromatoses - Ile-de-France
Hôpital Henri Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)
51, av du Maréchal de Lattre de Tassigny 94010 Créteil cedex
France
7 :  Service de Dermatologie
CHU Hotel Dieu
1 Place Alexis Ricordeau 44093 Nantes
France
8 :  CIC - Centre d'Investigation Clinique
INSERM : CIC006 – Université Paris-Est Créteil Val-de-Marne (UPEC)
51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil
France
9 :  Service de neuropédiatrie[Trousseau]
Hôpital Armand Trousseau – Assistance publique - Hôpitaux de Paris (AP-HP) – Université Pierre et Marie Curie (UPMC) - Paris VI
26 avenue du Docteur Arnold-Netter 75012 Paris
France
10 :  URC - Unité de Recherche Clinique
Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)
51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil
France
11 :  Service de Santé Publique
Hôpital Henri-Mondor – Assistance publique - Hôpitaux de Paris (AP-HP)
51 Avenue du Maréchal de Lattre de Tassigny 94010 Créteil
France
UNLABELLED: ABSTRACT: 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.
Sciences du Vivant/Génétique
Anglais
1750-1172

Articles dans des revues avec comité de lecture
10.1186/1750-1172-7-62
Orphanet Journal of Rare Diseases
Publisher BioMed Central
ISSN 1750-1172 
internationale
2012
03/09/2012
7
1
62

Neurofibromatosis 1 – Internal neurofibromas – Subcutaneous neurofibromas – Children – Cross-sectional study
Grant from the programme hospitalier de recherche clinique (PHRC, AOM 02108/P 020906), French Ministry of Health
Liste des fichiers attachés à ce document : 
PDF
1750-1172-7-62.pdf(273.4 KB)
ANNEX
1750-1172-7-62.xml(73.2 KB)