title: Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases.
abstract: BACKGROUND
  Neurofibromatosis type 1 affects quality of life (QoL) through association with severe complications, impact on cosmetic features, and uncertainty of the effects of the disorder.
  
  
  OBJECTIVE
  To evaluate the impact of the severity and visibility of neurofibromatosis type 1 on QoL.
  
  
  METHODS
  Monocenter, cross-sectional study.
  
  
  METHODS
  One French academic dermatological and neurofibromatoses clinic.
  
  
  METHODS
  A total of 128 adult patients with neurofibromatosis type 1.
  
  
  METHODS
  Evaluation of severity and visibility using, respectively, the Riccardi and Ablon scales. Evaluation of skin disease-specific and general QoL using, respectively, Skindex-France and SF-36 (Short Form 36 health survey) profiles controlled for sex, age, severity, and visibility.
  
  
  RESULTS
  In a multiple regression model controlling for sex, age, and visibility, visibility remained independently associated with the alteration of 3 aspects of the skin disease-specific QoL (Skindex-France): emotions, physical symptoms, and functioning (P =.03, P =.009, and P =.002, respectively). Patients with more severe neurofibromatosis reported more effects on the following domains of their general health QoL (SF-36): physical function, bodily pain, general health perception, and vitality (P =.006, P =.03, P =.01, and P =.04, respectively).
  
  
  CONCLUSIONS
  Neurofibromatosis type 1 has a significant impact on QoL through alteration of health and appearance. The consequences of visibility and severity from the viewpoint of patients can be evaluated using Skindex and the SF-36, respectively.
authors.affiliation: Department of Dermatology, Hôpital Henri-Mondor, F-94010 Créteil CEDEX, France. pierre.wolkenstein@hmn.ap-hop-paris.fr
authors.forename: P
authors.initials: P
authors.lastname: Wolkenstein
authors.forename: J
authors.initials: J
authors.lastname: Zeller
authors.forename: J
authors.initials: J
authors.lastname: Revuz
authors.forename: E
authors.initials: E
authors.lastname: Ecosse
authors.forename: A
authors.initials: A
authors.lastname: Leplège
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D000368:Aged; D003430:Cross-Sectional Studies; D005260:Female; D006304:Health Status; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D009456:Neurofibromatosis 1 / Q000523:psychology; D011788:Quality of Life; D012720:Severity of Illness Index; D012878:Skin Neoplasms / Q000523:psychology; D012917:Social Adjustment; D018709:Statistics, Nonparametric