Patients with epidermolysis bullosa at risk for delayed puberty, low bone density

Patients with epidermolysis bullosa are at risk for delayed puberty, which can have a significant impact on bone mineral density, according to a study, and this is especially true of those with recessive dystrophic epidermolysis bullosa.

Impaired bone health is a comorbidity in many diseases and peak bone mass accrual occurs during puberty. In light of the limited data showing both a delay in puberty and bone health in patients with epidermolysis bullosa (EB), Halley Wasserman, MD, MS, assistant professor and clinical fellow in pediatric endocrinology at the Cincinnati Children’s Hospital Medical Center, and colleagues evaluated the prevalence of each factor.

“We aim to determine risk factors for delayed puberty and/or low [bone mineral density (BMD)], allowing clinicians to better risk stratify patients and provide the framework for future studies to assess treatment protocols,” the researchers wrote.

Wasserman and colleagues reviewed electronic medical records of 186 patients with confirmed EB aged younger than 30 years at Cincinnati Children's Hospital Medical Center between Jan. 1, 2010, and Sept. 30, 2020. Natural language processing software determined and categorized the pubertal status of patients with EB as early, normal or late. A dual energy X-ray absorptiometry measured BMD and categorized it as low if z scores were less than –2.

Results showed that 29% of patients had low BMD, with most cases occurring before age 10 years. Also, 23% of patients who reached adolescence did not develop puberty in the normal range, defined as age 13 years for girls and age 14 years for boys, and these patients experienced further declined bone density z scores.

Delayed puberty was found in 33% of EB patients; however, this delay was only noted in the 60 patients with recessive dystrophic epidermolysis bullosa (RDEB), a severe form of EB. Additionally, nearly half of the cohort, including 35% of RDEB patients, were too young for an accurate assessment of puberty by the end of the study.

“While further investigation is necessary to determine the impact of low BMD on fracture, pain and osteoporosis risk in patients with EB,” Wasserman and colleagues wrote, “this study highlights the need for pubertal screening and bone health monitoring during childhood and adolescence to address skeletal health concerns in this population.”