Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases

Arch Dermatol. 2001 Nov;137(11):1421-5. doi: 10.1001/archderm.137.11.1421.


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.

Design: Monocenter, cross-sectional study.

Setting: One French academic dermatological and neurofibromatoses clinic.

Patients: A total of 128 adult patients with neurofibromatosis type 1.

Main outcome measures: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activities of Daily Living
  • Adolescent
  • Adult
  • Aged
  • Cross-Sectional Studies
  • Female
  • Health Status
  • Humans
  • Linear Models
  • Male
  • Middle Aged
  • Multivariate Analysis
  • Neurofibromatosis 1* / psychology
  • Quality of Life*
  • Severity of Illness Index
  • Skin Neoplasms* / psychology
  • Social Adjustment
  • Statistics, Nonparametric