Bone metabolism in children with epidermolysis bullosa

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

“…22 Osteopenia and osteoporosis Bone health in EB has not yet been the subject of much investigation, although there is evidence that osteopenia, osteoporosis, and fractures may occur, particularly in the more severe forms of the disease. [23][24][25] A number of mechanisms are thought to contribute to the observed reduced bone mineral density (BMD). First, mobility-especially weightbearing activity, which is known to be important for the maintenance of adequate BMD-is often markedly restricted in more severely affected EB patients, because of painful skin wounds, contractures, and anemia.…”

Correlates of low bone mass in children with generalized forms of epidermolysis bullosa

“…A cross-sectional, observational study of 7 Chilean children with generalized EB found low bone mineral density (BMD) in 3 patients, all of whom had low serum 25-OH vitamin D concentrations and severely limited activity. 4 In a study of 39 patients with EB, Fewtrell et al 5 found that those with RDEB or junctional EB tended to have lower BMD than agematched control subjects or patients with EB simplex; low BMD correlated with inactivity. No associated laboratory abnormalities were reported, but the retrospective design of the study precluded identification of additional potential risk factors for low BMD.…”

Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An evidence‐based review

“…Four out of 7 children had osteopenia and low 25‐hydroxy vitamin D. This study classified patients by their level of physical activity and nutritional intake. Following this, it was concluded the lowest BMD scores were indeed found in the most nutritionally compromised and sedentary children . The strengths of this study include the use of control data for BMD as well as adjusting for bone and stature‐dependent age to prevent overdiagnosing osteoporosis in paediatric patients.…”

“…In central Chile, where ultraviolet radiation is adequate year‐round, dairy products and cereals are not supplemented with vitamin D. Consequently, Chilean EB patients may already be at risk of vitamin D deficiency if they stay indoors with dressings. Thus, it is essential that confounding factors are identified and measured to account for bias in data from different settings …”