Sudden death in acrogeria Gottron type

AbstractIn this paper, we describe the case of a 29-year-old Caucasian male who was reported dead in his home. In 2010, a diagnosis of acrogeria, Gottron type was obtained by genetic analysis of a COL3A1 gene mutation. External examination showed typical characteristics of acrogeria, Gottron type. Autopsy showed a full-thickness laceration in the inferior vena cava wall, which caused hemorrhage and death. Samples of inferior vena cava were processed by Masson trichrome staining, which revealed a reduction in vessel wall thickness and a decrease in the amount of elastic fibers. An antibody reaction with BCL-2 was intensely positive. Our case is extremely rare in the medical field and in the world of scientific literature, both because the patient had a variant of acrogeria, Gottron type and because of the cause of death, which is not typical of Ehlers-Danlos syndrome. To the best of our knowledge, this very rare event has not previously been reported in the international scientific literature.
Source: Forensic Science, Medicine, and Pathology - Category: Forensic Medicine Source Type: research

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This article is protected by copyright. All rights reserved. PMID: 31794058 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
We present the case of a 9-year-old boy with abdominal pain and retching. An abdominal computed tomography revealed free air under the diaphragm, and surgical exploration showed perforation of the sigmoid colon. Ultimately, he was diagnosed with vEDS. We review the literature and discuss the clinical presentation, diagnosis, and life-threatening crises associated with vEDS.
Source: Pediatric Emergency Care - Category: Emergency Medicine Tags: Illustrative Cases Source Type: research
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Source: European Journal of Vascular and Endovascular Surgery - Category: Surgery Authors: Source Type: research
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Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
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Source: European Journal of Pediatric Surgery Reports - Category: Surgery Authors: Tags: Review Article Source Type: research
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Source: Journal of Cardiac Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: CASE REPORT Source Type: research
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