Health-related quality of life in patients with neurofibromatosis type 1. A survey of 129 Italian patients.
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.
Kodra
Yllka
Y
Istituto Superiore di Sanità-National Registry for Rare Diseases, Rome, Italy.
Giustini
Sandra
S
Divona
Luigina
L
Porciello
Roberto
R
Calvieri
Stefano
S
Wolkenstein
Pierre
P
Taruscio
Domenica
D
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