Journal of medical case reports · 2025
Complexities of care in a pediatric patient with epidermolysis bullosa acquisita and duchenne muscular dystrophy: a case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Al-Shami Khayry, Haddad Ziad, Mohammad Yousef Abuelrub Malath, Adnan Adel Qaddoumi Basel, Qudah Falah, Abdelaziz Abdullateef Shandaq Tala, Al-Shami Manar, Karaja Saja
Аннотация
BACKGROUND: 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.
CASE PRESENTATION: 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.
CONCLUSION: 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.
CASE PRESENTATION: 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.
CONCLUSION: 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.