Severe urological involvement in junctional epidermolysis bullosa justifying bladder enlargement by sigmoidocystoplasty and Mitrofanoff appendicovesicostomy

The urological complications of junctional epidermolysis bullosa (JEB) are difficult to manage because of the fragility of the skin and mucosa, and are not the subject of any recommendations. We report on 2 cases of chronic lower urinary tract dysfunction causing chronic kidney disease, treated by bladder enlargement with sigmoidocystoplasty and Mitrofanoff appendicovesicostomy after failure of medical treatment and suprapubic catheterisation several times a day. Follow-up was favourable in both children, with kidney function preservation and significant improvement of quality of life.