Patients with epidermolysis bullosa (EB), a rare genetic condition that causes fragile skin, are at an increased risk of developing osteoporosis, osteopenia, and pathologic fractures. This is due to various factors such as nutritional compromise and low levels of vitamin D. A recent study published in Pediatric Dermatology explored the complex nature of bone health in pediatric patients with EB.
The study conducted an extensive search of databases including Embase, PubMed, CINAHL, and the Cochrane Database of Systematic Reviews. The researchers identified 21 relevant studies that provided valuable insights into the prevalence of osteoporosis and osteopenia in children with EB. These studies also highlighted the contributing factors and provided clinical recommendations for managing bone health in patients with EB.
One significant finding of the review was that children with recessive dystrophic EB (RDEB) and junctional EB (JEB) often experienced growth and pubertal delay. Additionally, their body mass index scores were significantly lower compared to other subtypes of EB. The study also noted that reduced exposure to UV light, which is more common in countries like the UK, Germany, and the US, could potentially impact bone health.
Various measurements were used to assess bone health, including BMI Z-score, 25(OH)D levels, calcium, and alkaline phosphatase. The study consistently found that RDEB patients had lower bone mineral density compared to other subtypes of EB. Factors such as immobility, delayed puberty, and low BMI percentile were identified as predictors of low bone mineral density.
The researchers emphasized the need for further research to understand the molecular impact of EB on bone metabolism. They also called for the development of guidelines for screening, monitoring, and treating osteoporosis in patients with EB.
In conclusion, this review highlights the complex nature of bone health in patients with epidermolysis bullosa. The findings underscore the importance of addressing bone health in the management of this rare genetic condition. Further research and guidelines are needed to improve the screening and treatment of osteoporosis in patients with EB.