Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p48 | (1) | ICCBH2015

Bone mineral density, vertebral compression fractures and pubertal delay in patients with autosomal recessive epidermolysis bullosa

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

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 skin blistering and erosions following minor mechanical trauma, it is a multisystem disorder with pubertal delay and low bone mass as part of the many complications.Children with RDEB have been described as having inadequate gains in bone...