Monitoring Needed to Manage Delayed Puberty, Low Bone Density in Children with Epidermolysis Bullosa
Research By: Halley Wasserman, MD, MS | Anne Lucky, MD
Post Date: September 25, 2022 | Publish Date: Sept. 25, 2022
Dermatology | Top Scientific Achievement
Epidermolysis bullosa (EB) is a rare genetic disorder characterized by extreme skin fragility that affects approximately 1 in 20,000 individuals. Much like other children with chronic disease, many patients with EB have experienced impaired bone health and delayed puberty, but few studies have measured these concerns specifically among children with EB.
This study, led by first author Halley Wasserman, MD, MS, and senior author Anne Lucky, MD, describes bone mineral density (BMD), early puberty data and other measures collected from 186 children and young adults with EB treated at Cincinnati Children’s.
The team found that 29% of individuals had a BMD Z-score below -2.0SD at some point during their follow-up. Most cases began before age 10, with BMD scores dropping further during adolescence, especially in those with delayed puberty. Patients with recessive dystrophic epidermolysis bullosa (RDEB) were more likely to have low BMD during childhood, and this subgroup was at a higher risk for delayed puberty.
The team also noted that data were lacking for a significant percentage of individuals. Co-authors recommend obtaining dual-energy X-ray absorptiometry (DXA) scans for all RDEB patients by age 10, potentially even earlier in those with additional risk factors. However, DXA data were available on 55% of the entire cohort.
“While further investigation is necessary to determine the impact of low BMD on fractures, pain and osteoporosis risk in patients with EB, this study highlights the need for early pubertal and bone mineral density screening during childhood and adolescence to address skeletal health concerns in this population,” Lucky says.
|Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience
|Sept. 25, 2022
As a pediatric dermatologist, I have a special interest in epidermolysis bullosa (EB), and I also care for patients with other genetic disorders and those with difficult acne.