Epidermolysis Bullosa Simplex-Severe Caused by KRT5 p.Glu477Lys

Epidermolysis bullosa simplex-severe (EBS-severe) caused by KRT5 p.Glu477Lys is a rare and particularly severe subtype associated with high neonatal morbidity and mortality. We report an infant who during the neonatal period required prolonged multidisciplinary intensive care for the management of several complications, including extensive wounds with blood loss leading to secondary anemia, failure to thrive with gastroesophageal reflux, respiratory distress with stridor and a necrotizing soft tissue infection, ultimately requiring surgical debridement and grafting. Pain control proved inadequate despite continuous morphine infusion, leading to initiation of methadone, which provided effective and stable analgesia. This case underscores the severe multisystem morbidity of KRT5 p.Glu477Lys-associated GS-EBS and underscores the role of methadone in effective pain management in critically affected EB neonates.

Abstract from PubMed