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Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
Author(s) -
Khosrotehrani Kiarash,
BastujiGarin Sylvie,
Riccardi Vincent M.,
Birch Patricia,
Friedman Jan M.,
Wolkenstein Pierre
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30394
Subject(s) - neurofibromatosis , medicine , cohort , dermatology , oncology , pediatrics , radiology
Neurofibromatosis 1 (NF1) is a common genetic disorder with an autosomal dominant mode of inheritance, an increased morbidity and mortality, and a shorter lifespan. Although the disease is fully penetrant by the age of 8, the variability in symptoms and complications is high, even among members of the same family. The aim of this study was to identify easily recognizable clinical features that may be associated with mortality in a cohort of patients affected with NF1. We used prospectively collected data from the Neurofibromatosis Institute Database (NFID) and included in our analysis 703 patients who fulfilled the NIH diagnostic criteria for NF1. Clinical, especially dermatological features were tested as potential factors associated with mortality. Among the patients, 405 (57.6%) were children and 298 (42.4%) were adults. The mean follow‐up was 2.4 years (median = 0.98, range: 0–15.3 years). Forty patients died during follow‐up, mostly due to tumor development such as sarcoma (n = 18). In the adult population, subcutaneous neurofibromas (odds ratio [OR] = 3.6, 95% confidence interval (CI): [1.2–11.3], P = 0.02) and male gender (OR = 5.6, [1.5–20.9], P = 0.004) were independent predictors of mortality after adjustment for age. Among children, the presence of facial plexiform neurofibromas and pruritus were significantly associated with mortality in univariate analysis. Our study describes independent risk factors of mortality in a large cohort of adult and pediatric patients. Close follow‐up should be obtained for patients presenting with subcutaneous neurofibromas. © 2004 Wiley‐Liss, Inc.