Evidence map›Paper›PMID 40635014›Full record

ArticleJournal of medical case reports2025

Complexities of care in a pediatric patient with epidermolysis bullosa acquisita and duchenne muscular dystrophy: a case report.

Khayry Al-Shami, Ziad Haddad, Malath Mohammad Yousef Abuelrub, Basel Adnan Adel Qaddoumi, Falah Qudah, Tala Abdelaziz Abdullateef Shandaq, Manar Al-Shami, Saja Karaja

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Article in Journal of medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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2 · The registry

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Khayry Al-ShamiDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Ziad HaddadDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Malath Mohammad Yousef AbuelrubDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Basel Adnan Adel QaddoumiDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Falah QudahDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Tala Abdelaziz Abdullateef ShandaqDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Manar Al-ShamiDepartment of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Saja KarajaFaculty of Medicine, Hama University, Hama, Syria. sajaahmadkaraja935@gmail.com.ORCID http://orcid.org/0009-0009-9640-7406

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundType 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.

conclusionThis 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.

Indexed as

Epidermolysis Bullosa AcquisitaMuscular Dystrophy, DuchenneChild, PreschoolFemaleHumansDuchenne muscular dystrophy (DMD)Epidermolysis bullosa acquisita (EBA)Multidisciplinary approachNutritional supportPediatric care

Identifiers

PMID40635014
PMCPMC12239270

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.