| Vascular Ehlers-Danlos syndrome: A case with fatal outcome. | |
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MedLine Citation:
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PMID: 21549076 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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A 13-year-old boy, born prematurely and hypotonic, from non-consanguineous healthy parents, was referred to our department because of easy bruising. A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu valgum, flat feet, elongated upper limbs, and low muscle tone were all evident. A history of learning disability and bilateral inguinal hernia was present. Blood and imaging studies were unremarkable. A skin biopsy disclosed an unremarkable dermis; electron microscopy showed abnormalities in the diameter, contour, and shape of collagen fibrils/fibers. Genetic analysis revealed heterozygosity for a novel mutation in COL3A1 gene (c.3527G>A), confirming the diagnosis of vascular Ehlers-Danlos syndrome (VEDS). The patient died at 15 years of age because of aortic dissection. Vascular Ehlers-Danlos syndrome is a rare, life-threatening, autosomal dominant variant of EDS, resulting from mutations in COL3A1 gene. Affected individuals are prone to serious and potentially fatal complications, especially vascular, intestinal, and uterine ruptures. Delay in diagnosis is common, even when the clinical presentation is typical. Therefore, dermatologists should be familiar with VEDS features because the skin findings may be the first signs. Early diagnosis will improve management of visceral complications and allow early genetic counseling. |
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Authors:
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Paulo Morais; Alberto Mota; Catarina Eloy; José Manuel Lopes; Fátima Torres; Aida Palmeiro; Purificação Tavares; Filomena Azevedo |
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Publication Detail:
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Type: Journal Article Date: 2011-04-15 |
Journal Detail:
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Title: Dermatology online journal Volume: 17 ISSN: 1087-2108 ISO Abbreviation: Dermatol. Online J. Publication Date: 2011 |
Date Detail:
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Created Date: 2011-05-09 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9610776 Medline TA: Dermatol Online J Country: United States |
Other Details:
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Languages: eng Pagination: 1 Citation Subset: IM |
Affiliation:
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Department of Dermatovenereology, Hospital S. João, Porto, Portugal. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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