Background: Epidermolysis Bullosa (EB) is a rare genetic vesicobullous skin condition characterised by skin and mucosal fragility and blistering. Due to multiple risk factors including chronic inflammation, decreased physical activity, decreased sun exposure and malnutrition secondary to extracutaneous complications like oesophageal strictures and oral erosions, EB patients are thought to be predisposed to developing osteoporosis or osteopenia. Currently, there is scarce literature describing the prevalence of osteopenia or osteoporosis in EB, especially in the adult population and in the less severe EB types like EB Simplex (EBS).
Aim: To describe the prevalence of osteopenia or osteoporosis in EB patients from the Australiasian Epidermolysis Bullosa Registry (AEBR)
Methods: After sorting through 417 patients on the AEBR according to the inclusion and exclusion criteria, 353 patients were attempted to be contacted for participation either via phone, SMS or letter. 72 patients underwent dual energy x-ray absorptiometry (DEXA) scan. Patients’ bone mineral density (BMD) results, T- and Z- scores were obtained. Vitamin D levels, EB Disease Activity and Scarring Index (EBDASI), Quality Of Life in EB (QOLEB) scores were obtained where available.
Results: Only Recessive Dystrophic EB (RDEB) showed a statistically significant decrease in T-score from the diagnostic normal (T-score of -1). Normal BMDs (T-score > -1) were observed in EBS and Dominant Dystrophic EB (DDEB) with average (± standard deviation) T-scores of -0.1 (±0.785) and -0.1 (±0.856) respectively. There was a statistical difference (p<0.05) in the Z-scores between the milder types of EB (EBS & DDEB) and the severe types (Junctional EB (JEB) and RDEB). Statistically significant difference in T-scores between milder types and severe forms also existed with the exception of EBS vs JEB.
Conclusion: Stringent osteoporosis screen and management is warranted for RDEB patients. Mild type EB patients (EBS and DDEB) are not as at risk of developing osteoporosis.