ea0036P14 | (1) | BSPED2014
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...