Severe urological involvement in junctional epidermolysis bullosa justifying bladder enlargement by sigmoidocystoplasty and Mitrofanoff appendicovesicostomy - 19/03/25

Doi : 10.1016/j.arcped.2025.01.002

Marielle Ehilé-Kacou ^a, Pierre Yves Mure ^b,^c, Delphine Demede ^b, Alice Phan ^a, Justine Bacchetta ^a,^c,^d, Valeska Bidault ^b,^c, Bruno Ranchin ^a,^⁎
^a Paediatric Nephrology, Rheumatology and Dermatology Department, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France
^b Paediatric Urology Department, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France
^c Faculté de Médecine Lyon Est, Université de Lyon, Lyon, France
^d INSERM, UMR 1033, France

^⁎Corresponding author: Centre de référence des maladies rénales rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 59 boulevard Pinel 69677 Bron Cedex, France.Centre de référence des maladies rénales raresHôpital Femme Mère EnfantHospices Civils de Lyon59 boulevard PinelBron Cedex69677France

Sous presse. Épreuves corrigées par l'auteur. Disponible en ligne depuis le Wednesday 19 March 2025

Abstract

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.

Le texte complet de cet article est disponible en PDF.

Keywords : Epidermolysis bullosa junctionalis, Mitrofanoff, Bladder dysfunction, Chronic kidney disease