Quality of Life, Mental Health and Executive Function in Individuals with Basal Cell Naevus Syndrome

Basal cell naevus syndrome (BCNS) is a rare genetic disorder characteriszed by multiple basal cell carcinomas, as well as different extracutaneous tumours, cysts and abnormalities. Research on health-related quality of life (HRQoL) and mental health in BCNS is limited. This cross-sectional study included 62 individuals ≥18 years diagnosed with BCNS. Clinical and genetic data were collected, and five5 validated questionnaires were used to assess self-reported HRQoL, psychological distress, fatigue, pain and everyday executive functioning. Median regression analyses were conducted to identify factors associated with HRQoL. Independent samples t-tests and one proportion z-tests were conducted to compare the BCNS group with the general population. Individuals with BCNS reported lower HRQoL compared with the general population. Elevated anxiety symptoms were observed in 14 individuals (24%). The proportion of individuals reporting everyday executive deficits was higher in the BCNS group compared with the general population. Engagement in employment or higher education was associated with better physical and mental HRQoL, whereas symptoms of anxiety and everyday executive deficits were associated with reduced mental HRQoL. Findings highlight mental health challenges in BCNS. Routine screening for anxiety and executive functioning is suggested as essential steps in identifying those at risk and provideproviding timely psychological support.