ArticlePediatric dermatology2023
Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience.
Article in Pediatric dermatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 2 of them syntheses that pooled it.
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Who cites it
6 citing papers in PubMed, 2 syntheses or guidelines pooled it, 7 citations in OpenAlex.
- Early-life famine exposure and risk of osteoporosis and low bone mineral density: a systematic review and meta-analysis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Pooled it
- Natural language processing in dermatology: A systematic literature review and state of the art.Journal of the European Academy of Dermatology and Venereology : JEADV · 2024Pooled it
- A Single Center Retrospective Chart Review of Monitoring Laboratory Tests in Recessive Dystrophic Epidermolysis Bullosa.Pediatric dermatology · 2026Article
- Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus.Orphanet journal of rare diseases · 2025Article
- Consensus statements for the biopsychosocial care of patients with epidermolysis bullosa South Africa: Part 2.Health SA = SA Gesondheid · 2025Article
- Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience.Pediatric dermatology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundEpidermolysis bullosa (EB) is a group of rare genetic skin conditions that result in skin fragility. EB can be quite severe with chronic inflammation and malnutrition impairing growth and pubertal development. These factors have potential consequences for skeletal health. We aimed to determine the prevalence of delayed puberty and low bone mineral density (BMD) for age in children and young adults with EB.
methodsElectronic medical records (EMR) of patients with confirmed EB <30 years of age at time of initial encounter at Cincinnati Children's Hospital Medical Center between January 1, 2010 and September 30, 2020 were reviewed. Natural language processing software was used to categorize pubertal status of patients with EB as early, normal or delayed. BMD was measured by dual energy x-ray absorptiometry and categorized as low if height adjusted Z-score was <-2.0 using age, sex and race specific reference ranges.
results29% of individuals with EB had low BMD with most cases occurring prior to 10 years of age. Of patients who reached adolescence, 23% failed to develop any signs of puberty in the normal range (before age 13 in females or 14 in males) and BMD Z-scores further declined in these individuals.
conclusionDelayed puberty is an under-recognized comorbidity of individuals with EB, especially in those with recessive dystrophic EB, and can have a significant impact on BMD.
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