How much disability is caused by fibrofolliculomas during Birt–Hogg–Dubé Syndrome?

Abstract

Facial fibrofolliculomas (FFs) develop mainly on the face of patients with Birt-Hogg-Dubé syndrome (BHDS) after the second decade and increase in number and size during life. Measurement of the impairment of health-related quality of life (HQoL) related to facial FFs in a series of French patients with BHDS in an analytical epidemiology study using two self-reported HQoL questionnaires. The Dermatology Life Quality Index© (DLQI) and a modified version of the validated French version of the Cardiff Acne Disability Index© (CADI) were sent to 19 patients with BHDS. Demographic and clinical data were collected. Statistical analysis was performed using SAS version 9. Eighteen patients (56% male, 44% female, mean age 50.2 years) responded. Self-reported alteration in HQoL was reported in approximately one-third of the patients. The mean DLQI score (maximum 30) was low 2.2 (±4.3, range 0-18). Six (33.3%) had small effect on life (score 2-5) and one patient (5.5%) had a very large effect on her life (score 11-20) scoring 18. The mean CADI score (maximum 15) was a low 3.3 (±4.36, range 0-13). Five patients (31.1%) scored over 5 (>33% impairment). The highest DLQI and CADI scores were related to higher number of FFs. Limitation relies on the absence of validation of the modified version of the CADI. This study stresses the burden of facial FFs for a minority of patients and the importance of providing a local treatment.