ba0004p48 | (1) | ICCBH2015
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...