• Journal of Chest Surgery
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• v.33 no.11
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• pp.910-914
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• 2000

Ehlers-Danlos 증후군 중 제4형은 다른 형들과 마찬가지로 피부 손상이 쉽게 오고, 쉽게 멍이 들고, 관절이 잘 휘어지는 등의 신체적인 특징을 가기지만 대혈관을 침범하여 때로는 치명적인 출혈을 일으키기도 한다. 아주 작은 충격이나 힘에도 혈관들이 쉽게 찢어지거나 때로는 심각한 손상을 임기 때문에 수술 적인 치료를 하는데 많은 위험이 있을 수 있고 심지어는 이득을 얻지 못하는 경우도 있다. 저자들은 Ehlers-Danlos 증후군을 동반한 급성 대동맥박리의 성공적인 수술적 치료를 보고하는 바이다.

• Journal of Chest Surgery
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• v.43 no.3
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• pp.336-339
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• 2010

We successfully performed bleeding control using roll-gauze packing in a patient with Type IV Ehlers-Danlos syndrome and this patient was suffering from spontaneous hemothorax. Thoracotomy for controlling ongoing bleeding in a patient with Type IV Ehlers-Danlos syndrome should be performed as a last resort after due consideration.

• Journal of Yeungnam Medical Science
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• v.33 no.1
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• pp.44-47
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• 2016

Primary dissection of the renal artery is rare. Spontaneous renal artery dissection can be associated with diseases such as medial degeneration, neurofibromatosis, syphilitic arteritis, tuberculosis, polyarteritis nodosa, Marfan syndrome, fibromuscular dysplasia, or Ehlers-Danlos syndrome (EDS). Among these causes, EDS related renal artery dissection is very rare worldwide and has not been previously reported in Korea. EDS are a group of heritable connective tissue disorders characterized by fragility of the skin and hypermobility of the joints. We describe the case history of a young man who presented with left side flank pain, hypermobility of the hand joints and showed left renal artery dissection on computed tomography and angiography that turned out to be the first complication of vascular type EDS.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.168-173
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• 2014

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.

• The Korean Journal of Legal Medicine
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• v.40 no.2
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• pp.61-64
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• 2016

Ehlers-Danlos syndrome type IV (EDS IV) is a hereditary disorder of the connective tissue, characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations of the gene for type III procollagen (COL3A1), resulting in insufficient collagen production or a defect in the structure of collagen. EDS IV can have fatal complications such as the rupture of great vessels or organs, which can cause hemorrhaging and sudden unexpected death. Here, we report a case of a 43-year-old female who collapsed after a struggle with a neighbor. In this patient, the bifurcation of the bilateral common iliac artery ruptured, with no evidence of trauma, inflammation, or atherosclerosis. Genetic analysis of COL3A1 showed the presence of a c.2771G>A (p.Gly924Arg) mutation, which may be associated with EDS IV. The forensic pathologist should consider the possibility that the spontaneous visceral or arterial rupture was caused by EDS IV. Genetic analysis is not currently a routine procedure during autopsy. However, in this case, we suggest that the patient possibly had an underlying EDS IV condition, and we recommended family members of the deceased to seek genetic analysis and counseling.

• Journal of Chest Surgery
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• v.42 no.5
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• pp.639-644
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• 2009

Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-$\beta$ receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.