Searchable abstracts of presentations at key conferences in endocrinology

ea0036P14 | (1) | BSPED2014

Bone mineral density and vertebral compression fractures in patients with recessive dystrophic epidermolysis bullosa

Cheung Moira , Bozorgi Niloofar , Mellerio Jemima , Allgrove Jeremy , Brain Caroline , Martinez Anna

Introduction: Severe generalised recessive dystrophic epidermolysis bullosa (RDEB) is a rare disorder resulting from loss of function mutations in the type VII collagen gene (COL7A1). Although RDEB is characterised by severe trauma induced skin blistering and erosions, it is a multisystem disorder with low bone mass as one of the many complications.Objectives: We sought to describe the prevalence of low bone mass, vertebral fractures and scolios...