title: Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients.
abstract: OBJECTIVE
  Neurofibromatosis type 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a significant impact upon quality of life (QoL). The study aimed to assess the impact of NF1 on QoL.
  
  
  METHODS
  A total of 129 patients with NF1 completed the study questionnaires in an Italian academic dermatological centre and a neurofibromatosis clinic at the University of Rome.
  
  
  RESULTS
  All domains of general-health-related QoL were affected. Patients with serious cosmetic problems reported a greater impact on the emotional domain.
  
  
  CONCLUSIONS
  In our study, the impact of the cosmetic features on QoL had the greatest importance. This survey demonstrates the usefulness of QoL measurements in supplementing clinical assessments.
authors.affiliation: Istituto Superiore di Sanità-National Registry for Rare Diseases, Rome, Italy.
authors.forename: Yllka
authors.initials: Y
authors.lastname: Kodra
authors.forename: Sandra
authors.initials: S
authors.lastname: Giustini
authors.forename: Luigina
authors.initials: L
authors.lastname: Divona
authors.forename: Roberto
authors.initials: R
authors.lastname: Porciello
authors.forename: Stefano
authors.initials: S
authors.lastname: Calvieri
authors.forename: Pierre
authors.initials: P
authors.lastname: Wolkenstein
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D005260:Female; D006304:Health Status; D006801:Humans; D007398:Interpersonal Relations; D007558:Italy; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000473:pathology / Q000523:psychology*; D011788:Quality of Life; D011795:Surveys and Questionnaires; D055815:Young Adult