An autosomal dominant skin cancer predisposition condition called basal cell nevus syndrome (BCNS) is linked to faulty mineral metabolism, which increases the chance of developing the urinary stone disease (USD). However, no studies examining the relationship between BCNS & USD or other signs of atypical mineral metabolism. For a study, researchers sought to shed light on possibly unidentified symptoms of the illness, the goal of the study was to examine the relationship between BCNS and diseases such USD, hypothyroidism, and osteoporosis that were linked to disorders of mineral metabolism.

The retrospective analysis looked at medical records from the Mayo Clinic database for adult and pediatric patients with confirmed BCNS from January 1, 1995, to January 12, 2020. Records were examined for indications of USD and other comorbidities that may have been connected to BCNS. Five juvenile patients and 100 adult patients made up the study cohort.

In the investigation, 105 patients in total were included, and 10 had confirmed USD, corresponding to a 10% prevalence. A diagnosis of osteoporosis in 6 adult patients was found, which corresponds to a 6% prevalence. Hypothyroidism was diagnosed in 13 adult individuals, or 13% of the population, according to the research.

The study found that the incidence of USD in BCNS patients was equivalent to national prevalence estimates, showing that recognized anomalies in mineral metabolism were probably not responsible for the higher incidence of USD in BCNS patients. Additional data showed that the BCNS cohort had higher rates of hypothyroidism and lower rates of osteoporosis than the national norms.

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