An analysis of the prevalence of osteoporosis and osteopenia in patients with epidermolysis bullosa: A cross‐sectional study

Abstract

Epidermolysis bullosa (EB) refers to a group of rare genodermatoses characterized by mucocutaneous fragility with blistering and erosions on minimal trauma. 1 There are four main types: EB simplex (EBS), dystrophic EB (DEB), junctional EB (JEB) and Kindler type .EB is phenotypically heterogeneous, and common clinical manifestations include cutaneous vesiculobullous lesions, and many multi-organ system complications, 2 including malnutrition, 3-5 anaemia, 6 pubertal delay 7 and failure to thrive. 8,9 EB patients often have decreased physical activity as a result of painful blistering affecting pressure-prone areas, 10 debilitating digit deformities such as pseudosyndactyly and chronic fatigue from anaemia. 6 Decreased physical activity from childhood 11,12 can compromise peak BMD, which is typically achieved by the third decade of life. 13 This can increase the lifetime risk of osteoporosis and fractures. 14

Osteoporosis and bone health in pediatric patients with epidermolysis bullosa: A scoping review

“…9 In another study, 33% of those with RDEB had delayed puberty, while no other EB subtype met criteria, although 65% of those with EBS or JEB were too young to observe pubertal changes. 22 BMI scores were significantly lower in RDEB 9,11 and JEB, compared to DDEB ( p < .002) and EBS (p < .02). 11 Few papers mentioned ethnicity/skin type and no studies correlated osteoporosis with skin color, sun exposure/ geography, and diet of patients.…”

“…22 BMI scores were significantly lower in RDEB 9,11 and JEB, compared to DDEB ( p < .002) and EBS (p < .02). 11 Few papers mentioned ethnicity/skin type and no studies correlated osteoporosis with skin color, sun exposure/ geography, and diet of patients. That said, 81% of the 21 papers were published in countries with low UV exposure (UK, Germany, France, Italy, Japan, US) and 19% from countries with high UV exposure (Australia, Chile, India, Indonesia), suggesting the possibility of an impact of reduced UV light exposure.…”

“…9 While weight-bearing activity is optimal for bone health, it is limited due to fatigue, 8 joint contractures, 10 and depression which may impact motivation for exercise. 11 Compromise in achieving adequate bone growth during childhood and adolescence places patients with EB at immediate and future risk for pathologic fractures, osteopenia, and osteoporosis. 8 The aim of this scoping review is to identify the prevalence and events preceding osteopenia/osteoporosis in the EB population, understand how bone metabolism is affected by EB pathophysiology, and identify unmet investigational needs.…”

Physiotherapy for epidermolysis bullosa: clinical practice guidelines

“…Physiotherapy is an integral part of the IDT who evaluates and assesses gross motor developmental skills, impairments that limit functional movement within the home and community, weight bearing skills, durable medical equipment needs, endurance and education based on movement sciences. When not in active disease state, encourage physical and weight bearing activities to facilitate healthy bone mineral accrual [ 24 ]. This CPG provides evidence based recommendations to the physiotherapist who can safely address functional movement concerns with the EB community.…”

A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa

“…The underlying pathogenic mutations of hereditary EB involve genes of structural proteins within the epidermis, skin basement membrane zone (dermo-epidermal junction), or uppermost dermis [1]. Although EB is often viewed as a skin disease, the most severe forms, such as Recessive Dystrophic EB (RDEB) or Junctional EB (JEB), are actually multisystemic disorders with extracutaneous complications, such as oesophageal strictures, cardiomyopathy, anaemia, growth failure and reduced bone mass [2][3][4][5][6][7].…”