Document Detail

Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement.
MedLine Citation:
PMID:  19078768     Owner:  NLM     Status:  In-Data-Review    
We report a new clinical variant of epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) that was associated with cardiac involvement. A 33-year-old patient had atrial fibrillation, pericardial effusion, and hypokinetic left ventricular cardiac walls. The muscle biopsy material revealed diffuse endomysial fibrosis and small atrophic muscle fibers with rounded contours. A positive desmin expression with abnormal localization in the subsarcolemmal groups was observed. We concluded that patients with EBS-MD should be investigated carefully when there are associated cardiac findings.
Canan Celik; Hilmi Uysal; Aylin Okcu Heper; Belgin Karaoglan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of clinical neuromuscular disease     Volume:  6     ISSN:  1537-1611     ISO Abbreviation:  J Clin Neuromuscul Dis     Publication Date:  2005 Jun 
Date Detail:
Created Date:  2008-12-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100887391     Medline TA:  J Clin Neuromuscul Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  157-61     Citation Subset:  -    
From the Departments of *Physical Medicine and Rehabilitation and daggerNeurology, Ankara Physical Medicine and Rehabilitation Education and Research Hospital, Ankara, Turkey; and the Departments of double daggerPathology and section signPhysical Medicine and Rehabilitation, Gazi University Medicine, School of Medicine, Ankara, Turkey.
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