Epidermolysis Bullosa and Delayed Puberty

Did you know that bone mass accrual and bone mineral density depend highly on puberty? Because of this, puberty delays or interruptions can negatively affect bone mineral density or cause bone issues. In the past, there has been a slight discussion around puberty delays and bone health in relation to epidermolysis bullosa (EB). According to Healio, researchers set out to better understand more about the intersections between EB, puberty, and bone health. 

Within this study, a research team evaluated electronic medical records (EMRs) from 186 individuals with epidermolysis bullosa from a 10.5-year period. All patients included in the records were under 30 years old. 

The researchers found that 29% of patients (54 patients) had low bone mineral density. In most of these patients, the low bone mineral density was present before the patients turned ten years old. 33% (62 patients) had delayed puberty, which was associated with worsening bone mineral density. Delayed puberty was heavily associated with recessive dystrophic epidermolysis bullosa. 

Ultimately, more research is needed to understand how bone health and epidermolysis bullosa intersect. However, this study does suggest that children with epidermolysis bullosa should be monitored by their doctor to screen for any potential bone health issues. 

About Epidermolysis Bullosa (EB)

Epidermolysis bullosa (EB) refers to a group of rare connective tissue diseases which cause moderate-to-severe skin blistering. There are three main forms of EB: simplex (EBS), junctional (JEB), and dystrophic (DEB). Other subtypes also exist. EBS is the most common form. EB is caused by gene mutations, most often KRT5 or KRT14. In more mild or moderate cases, EB causes external skin blistering. But in severe cases, blistering may also occur internally. Symptoms and severity vary based on subtype. However, potential symptoms or characteristics can include:

  • Widespread skin blistering
  • Thickened skin on the palms and feet
  • Large, ulcerative blisters
  • Thickened or missing nails
  • Difficulty breathing or swallowing
  • Skin pain
  • Thin-appearing skin
  • Increased risk of skin cancer
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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