Epidermolysis bullosa and inherited blistering disorders — clinical case

Case

A 15-year-old boy with severe generalised recessive dystrophic EB, confirmed on immunofluorescence mapping and a biallelic COL7A1 mutation in early childhood, is reviewed in the EB clinic. He has long-standing mitten deformity of both hands from recurrent blistering and scarring, a gastrostomy for nutritional support because of oesophageal stricturing, and chronic iron-deficiency anaemia. He now reports a wound on the right lower leg that has enlarged and become nodular over six months despite his usual meticulous atraumatic dressings, together with worsening dysphagia and fatigue. ^[11]