Pediatric dermatology · 2026
Epidermolysis Bullosa Simplex-Severe Caused by KRT5 p.Glu477Lys: Challenges Encountered in This High-Risk Subtype.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Zhovta Nataliia, Lanz Joana, Hafner Bettina, Willi Karin, Baller Sven-Eric, Adzikah Stephanie, Theiler Martin, Weibel Lisa, Luchsinger Isabelle, Neuhaus Kathrin, Küpper Simon, Relly Christa, Thomas Jörg, Bergsträsser Eva, Knöpfel Nicole, Schwieger-Briel Agnes
Аннотация
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.