Analysis Shows Epidermolysis Bullosa May Be Associated with Low Bone Mineral Density

USA: Delay in puberty may contribute to decreased bone mineral density in children and young people with epidermolysis bullosa (EB), according to a recent study published in Pediatric Dermatology.

A severe group of uncommon genetic skin diseases known as EB causes persistent inflammation, skin fragility, and malnutrition that affects pubertal development. Regarding its impact on bone mineral density (BMD) and skeletal health, the comorbidity of delayed pubertal development was evaluated. EB can be fairly severe, affecting growth and pubertal development due to persistent inflammation and starvation. Potential effects of these elements on bone health exist.

The researchers of the study wanted to know if children and young people with EB frequently experienced delayed puberty and low bone mineral density (BMD) for their age.

The Cincinnati Children's Hospital Medical Center provided 186 electronic medical records (EMR) for EB patients to the investigators. They verified that between January 2010 and September 2020, the average age of EB patients at the time of their initial interactions was around 30 years old. The study classified the pubertal state of EB patients as either early, normal, or delayed using natural language processing software. If any of the following information was provided by the EMR, it was classified as delayed pubertal status for patients:By the age of 14, males do not have enlarged testicles.

• a male prescription for testosterone
• By the age of 13, females do not develop breasts.
• By the age of 16, women stop having periods.
• Pediatric endocrinologist reports on delayed puberty.

Using dual energy x-ray absorptiometry, BMD was evaluated. Levels were considered low if the patients' height-adjusted Z-scores were below 2.0. For those whose data was evaluated, the researchers used age-, sex-, and race-specific reference ranges. For this study, they used BMI, B subtype, gastric tube (GT) status, and pubertal status as BMD co-variants.

Key highlights of the study:

• Low BMD was present in 29% of the EB patients studied, with the majority of these cases occurring before the children became 10 years old.
• 23% of patients did not exhibit any signs of puberty before the typical age range of before 13 for females and before 14 for males when they reached adolescence.
• BMD Z-scores dropped in these patients as well.
• During the prepubertal and peripubertal periods of EB patients, weight-bearing exercise therapies were most successful in increasing bone mass.
• When compared to patients reporting normal puberty, patients with delayed puberty were more likely to be characterized as predominant wheelchair users, at 61% versus 18%, respectively (P = 0.008).

While more research is needed to determine how low BMD affects fracture, pain, and osteoporosis risk in patients with EB, the authors concluded that this study "highlights the need for pubertal screening and bone health monitoring during childhood and adolescence to identify skeletal health issues in this population."

REFERENCE

Wasserman, H, Dumenigo, A, Hornung, L, Augsburger, B, Marathe, K, Lucky, AW. Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience. Pediatr Dermatol. 2022; 1- 7. doi:10.1111/pde.15136