Basal cell nevus syndrome (BCNS) would be an autosomal dominant skin cancer predisposition syndrome. The goal of this study would be to investigate the relationship between Basal cell nevus syndrome (BCNS) and conditions associated with disordered mineral metabolisms, such as urinary stone disease (USD), hypothyroidism, and osteoporosis, and compare it to the prevalence in the general population in order to elucidate potential unknown manifestations of the condition. This study examined medical records from the Mayo Clinic database of adult and pediatric patients with confirmed BCNS. Records were examined for evidence of USD and other BCNS-related comorbidities. There were 100 adult patients and 5 pediatric patients in the study cohort. In this study, 105 patients were included, with 10 of them having confirmed USD, representing a 10% prevalence. About 6 adult patients were identified as having osteoporosis, representing a 6% prevalence. Around 13 adult patients were identified as having hypothyroidism, representing a 13% prevalence. This study found a prevalence of USD in BCNS patients that was comparable to national estimates, indicating that known abnormalities in mineral metabolism do not likely increase the incidence of USD in BCNS patients. It includes higher rates of hypothyroidism and lower rates of osteoporosis in the BCNS when compared to national averages.

Source:onlinelibrary.wiley.com/doi/10.1111/pde.15022