Al-Shami Khayry, Haddad Ziad, Mohammad Yousef Abuelrub Malath, Adnan Adel Qaddoumi Basel, Qudah Falah, Abdelaziz Abdullateef Shandaq Tala, Al-Shami Manar, Karaja Saja
Department of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Faculty of Medicine, Hama University, Hama, Syria.
J Med Case Rep. 2025 Jul 9;19(1):330. doi: 10.1186/s13256-025-05395-9.
Type VII collagen autoantibodies drive epidermolysis bullosa acquisita (EBA), a rare autoimmune blistering disorder. While typically seen in adults, pediatric cases-especially those with additional comorbidities-present unique clinical challenges.
We describe a rare and diagnostically complex case of a 5-year-old Jordanian female with a history of epidermolysis bullosa and Duchenne muscular dystrophy (DMD), an X-linked disorder predominantly affecting males; the diagnosis of DMD in our patient was based on historical clinical and biopsy findings, as genetic confirmation was unavailable owing to the external nature of the original diagnosis. She presented with extensive blistering, chronic wounds, recurrent infections, and profound metabolic disturbances, including severe electrolyte imbalances and liver dysfunction. The coexistence of EBA and DMD introduces unique diagnostic uncertainties, necessitating a multidisciplinary approach incorporating advanced wound care, infection prevention, nutritional support, and genetic counseling.
This case represents one of the few documented reports of EBA co-occurring with DMD in a female patient, highlighting critical gaps in understanding its pathophysiologic interactions. The complex disease interplay exacerbates systemic complications, demanding a highly individualized and interdisciplinary care strategy. Recognizing atypical DMD presentations and refining diagnostic criteria for such rare coexisting conditions are essential. Additionally, streamlining management approaches and providing robust education and support for affected families remain crucial.
VII型胶原自身抗体导致获得性大疱性表皮松解症（EBA），这是一种罕见的自身免疫性水疱病。虽然该病通常见于成人，但儿科病例，尤其是那些伴有其他合并症的病例，带来了独特的临床挑战。
我们描述了一名5岁约旦女性的罕见且诊断复杂的病例，她有大疱性表皮松解症和杜氏肌营养不良症（DMD）病史，DMD是一种主要影响男性的X连锁疾病；我们患者的DMD诊断基于既往临床和活检结果，由于最初诊断是外部诊断，无法进行基因确诊。她出现广泛水疱、慢性伤口、反复感染以及严重的代谢紊乱，包括严重电解质失衡和肝功能障碍。EBA和DMD的共存带来了独特的诊断不确定性，需要采用多学科方法，包括先进的伤口护理、感染预防、营养支持和遗传咨询。
该病例是为数不多的记录在案的女性患者中EBA与DMD同时发生的报告之一，凸显了在理解其病理生理相互作用方面的关键差距。复杂的疾病相互作用加剧了全身并发症，需要高度个体化和跨学科的护理策略。认识非典型DMD表现并完善此类罕见共存疾病的诊断标准至关重要。此外，简化管理方法并为受影响家庭提供有力的教育和支持仍然至关重要。
