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Ehlers-Danlos syndrome type IV

Published on Aug 3, 2000in The New England Journal of Medicine70.67
· DOI :10.1056/NEJM200008033430513
Yigal M. Pinto1
Estimated H-index: 1
(Suffolk University),
Gerard Pals1
Estimated H-index: 1
(Suffolk University)
+ 1 AuthorsJaap E. Tulleken1
Estimated H-index: 1
(Suffolk University)
Abstract
  • References (3)
  • Citations (19)
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References3
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#1Melanie G. Pepin (UW: University of Washington)H-Index: 23
#2Ulrike Schwarze (UW: University of Washington)H-Index: 30
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
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#1Reed E. Pyeritz (Johns Hopkins University)H-Index: 75
#2Catherine A. Stolle (UMDNJ: University of Medicine and Dentistry of New Jersey)H-Index: 11
Last. Jeanne C. Myers (UPenn: University of Pennsylvania)H-Index: 28
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Ehlers-Danlos syndrome type IV (EDS IV) is characterized by variable changes in the skin, arterial fragility, bowel perforation, minimal joint involvement, and either autosomal recessive or autosomal dominant inheritance. The unifying biochemical abnormality is a deficiency of type III collagen; all patients studied thus far have shown a defect in either synthesis or in secretion of type III procollagen. We report on an adolescent boy who inherited EDS IV from his father and who developed a spon...
25 CitationsSource
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Mary (pseudonym) is a 30-year-old woman who underwent a urinary diversion and formation of an ileal conduit/urostomy (urinary stoma) due to the formation of multiple bladder diverticula, which caused micturition difficulties and recurrent urinary tract infections with associated pain and discomfort. The bladder diverticula were caused by Ehlers-Danlos syndrome (EDS), a hereditary disorder of the connective tissue or, particulary, defective collagen. Surgical intervention in patients with EDS is ...
1 CitationsSource
#1Melanie G. Pepin (UW: University of Washington)H-Index: 23
#2Ulrike Schwarze (UW: University of Washington)H-Index: 30
Last. Peter H. Byers (UW: University of Washington)H-Index: 70
view all 6 authors...
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
76 CitationsSource
Spontaneous hemo-pneumothorax is one of the pulmonary complications of connective tissue disorders such as Ehlers–Danlos syndrome (EDS). Most thoracic surgeons overlook this fact and they consider it as primary. In the following report, we describe a unique case of spontaneous recurrent hemo-pneumothorax in a young patient with undiagnosed EDS. The aim of this presentation is to raise a high index of suspicion of every thoracic surgeon to include in his differential diagnosis, the connective tis...
5 CitationsSource
Introduction: Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue diseases characterized by joint hypermobility, skin hyperextensibility and bruising tendency. Common features of patients with EDS include vascular and gastrointestinal perforations. The purpose of this systematic review is to address gastrointestinal diseases and the complications associated with surgical treatment of diseases relating to the gastrointestinal system in patients with EDS. Methods: PubMed se...
36 CitationsSource
There is no proven therapy or prevention for vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder associated with the mutation of procollagen type III and characterized by increased fragility of vascular and hollow organ walls. Heterozygous COL3A1-deficient (HT) mice recapitulate a mild presentation of one of the variants of vEDS: haploinsufficiency for collagen III. Adult HT mice are characterized by increased metalloproteinase (MMP) activity, reduced collagen content in the arterial wall...
15 CitationsSource
#1Steven W. HettsH-Index: 27
#2Joey English (UCSF: University of California, San Francisco)H-Index: 21
Last. Van V. HalbachH-Index: 67
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BACKGROUND AND PURPOSE: Children with brain aneurysms may be at higher risk than adults to develop new or enlarging aneurysms in a relatively short time. We sought to identify comorbidities and angiographic features in children that predict new aneurysm formation or enlargement of untreated aneurysms. MATERIALS AND METHODS: Retrospective analysis of the University of California–San Francisco Pediatric Aneurysm Cohort data base including medical records and imaging studies was performed. RESULTS:...
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#1Eduardo J. Mortani Barbosa (UPenn: University of Pennsylvania)H-Index: 11
#2Reed E. Pyeritz (UPenn: University of Pennsylvania)H-Index: 75
Last. Benoit Desjardins (UPenn: University of Pennsylvania)H-Index: 28
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Life expectancy in vascular Ehlers–Danlos syndrome (EDS) is shortened due to spontaneous rupture of arteries, the colon and the gravid uterus. Two adolescent males with vascular EDS illustrate rapid progression of arterial aneurysms, dissections, and rupture. Radiologic imaging played an important role in initially diagnosing and monitoring the evolution of arterial involvement. Both prophylactic and emergency management remain largely ineffective in this connective tissue disorder; however, non...
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#1Philippe Charlier (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 10
Last. Lorin de la Grandmaison G (UVSQ: Versailles Saint-Quentin-en-Yvelines University)H-Index: 15
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This article describes the case of a sudden death in a 45-year-old female consecutive to acute and extensive arterial dissection in a context of Ehlers–Danlos syndrome type IV. The interest of this case report is that autopsy findings led to the suspicion of a clinical diagnosis prompting as carrying out a genetic testing which definitively confirms the diagnosis, opening the way to genetic council for family members. Criteria for this disease diagnosis and full methodology are described, that m...
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#1Wilfried BriestH-Index: 5
#2Mark I. Talan (NIH: National Institutes of Health)H-Index: 29
The vascular form of the Ehlers–Danlos syndrome (vEDS) is a rare inherited connective tissue disorder. Patients have a reduced life span (under 50) due to spontaneous and often fatal rupture of blood vessels and hollow organs. Until very recently no evidence-based treatment had been available. VEDS results from mutations in the COL3A1 gene that encodes the chains of collagen type III and alters the sequence in the triple-helical domain. A mouse model of vEDS created by inactivation of the Col3a1...
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#1Timothy K. Cooper (PSU: Pennsylvania State University)H-Index: 16
#2Q. Zhong (PSU: Pennsylvania State University)H-Index: 1
Last. Wilfried Briest (Leipzig University)H-Index: 5
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Vascular Ehlers-Danlos syndrome is a rare genetic disorder resulting from mutations in the a-1 chain of type III collagen (COL3A1) and manifesting as tissue fragility with spontaneous rupture of the bowel, gravid uterus, or large or medium arteries. The heterozygous Col3a1 knockout mouse was investigated as a model for this disease. The collagen content in the abdominal aorta of heterozygotes was reduced, and functional testing revealed diminishing wall strength of the aorta in these mice. Colon...
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