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Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Shin YL, Park YN, Jang MA

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency...
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Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

Seo GH, Kim YM, Ghang B, Kim GH, Lee BH

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with...
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Treatment of the wide open wound in the Ehlers-Danlos syndrome

Baik BS, Lee WS, Park KS, Yang WS, Ji SY

Ehlers-Danlos syndrome (EDS) is an inherited disorder of collagen biosynthesis and structure, characterized by skin hyperextensibility, joint hypermobility, aberrant scars, and tissue friability. Besides the skin, skeleton (joint) and vessels,...
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Resistance to local anesthesia in people with the Ehlers-Danlos Syndromes presenting for dental surgery

Schubart J, Schaefer E, Janicki P, Adhikary S, Schilling , Hakim AJ, Bascom R, Francomano CA, Raj SR

BACKGROUND: People with the Ehlers-Danlos Syndromes (EDS), a group of heritable disorders of connective tissue, often report experiencing dental procedure pain despite local anesthetic (LA) use. Clinicians have been uncertain...
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The Vascular Type Ehlers-Danlos Syndrome Diagnosed after Delivery

Kim SM, Kang YD

Vascular Ehlers-Danlos sydrome (vEDS) is a life-threatening autosomal dominant inherited disorder of connective tissue characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. vEDS...
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Ehlers-Danlos Syndrome in a Newborn Mistaken for Edwards Syndrome

Kim SK, An JW, Lee SH, Oh YK

The Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder with special characteristics such as joint hypermobility, tissue fragility and skin abnormalities. The recently classification divide six subtypes. Dermatosparaxis types...
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Spontaneous renal artery dissection in Ehlers-Danlos syndrome

Lim BH, Lee SI, Lim JH, Oh SJ, Chu MS, Ahn SH, Byun SJ

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...
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[Secondary publication] Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV

Baek T, Kim M, Ki CS, Park SH, Lee H, Kim KR, Choi BH

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,...
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Cutaneous asthenia (Ehlers-Danlos syndrome) in a Korean short-haired cat

Seo SH, Choi M, Hyun C

A 1-year-old Korean domestic short-haired cat presented with skin hyperextensibility and a severely macerated wound on the skin of the dorsal part of the neck. Diagnostic studies including histopathology and...
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Familial gigantiform cementoma with Ehlers - Danlos syndrome: A report of 2 cases

Sakar O, Aren G, Mumcu Z, Unalan F, Aksakalli , Tolgay CG

Ehlers-Danlos syndrome is an autosomal dominant hereditary disorder of connective tissue, while familial gigantiform cementoma is a condition that usually manifests as multiple radiopaque cementum-like masses throughout the jaws. This...
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An Isolated Pulmonary Hematoma Mimicking a Lung Tumor as the Initial Finding of Vascular Ehlers-Danlos Syndrome

Kang EJ, Lee KN, Choi PJ, Ki CS

The vascular type of Ehlers-Danlos syndrome (vEDS) is an uncommon inherited disorder characterized by abnormalities in type III collagen, presenting itself as arterial dissection or rupture. We report a case...
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Classic Type Ehlers-Danlos Syndrome with Cutis Laxa-like Histopathologic Findings

Kim UK, Nam HM, Park K, Park SD

  • KMID: 1451630
  • Korean J Dermatol.
  • 2011 Jun;49(6):524-528.
Ehlers-Danlos syndrome is a connective tissue disorder that is characterized by hyper-extensible skin, hyper-mobile joints, fragile tissues, bleeding diathesis and poor healing of wounds with "cigarette paper" scar formation. Cutis...
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Ehlers-Danlos Syndrome Type IV and the Management of Its Vascular Complication

Park JK

Ehlers-Danlos syndrome type IV (EDS IV), the vascular type of EDS, is an inherited connective tissue disorder due to abnormal procollagen III synthesis by mutation of the COL3A1 gene. EDS...
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Rupture of abdominal aortic aneurysm after spine surgery in the patient with Ehlers-Danlos syndrome: A case report

Im JS, Lim YH, Park JS, Lee SS, Kim KM

Ehlers-Danlos syndrome (EDS) is a rare inherited disorder of the connective tissue that is characterized by hyperextensible skin, hypermobile joints and abnormalities of the cardiovascular system. A 15-year-old girl with...
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Spontaneous Hemothorax in a Patient with Type IV Ehlers-Danlos Syndrome: A case report

Han KN, Kim YT, Nam J, Choi JH, Kang CH, Kim JH

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...
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Fusiform Aneurysm Presenting with Cervical Radiculopathy in Ehlers-Danlos Syndrome

Kim HS, Choi CH, Lee TH, Kim SP

Ehlers-Danlos syndrome (EDS) type IV is characterized by its clinical manifestations, which are easy bruising, thin skin with visible veins, and rupture of arteries, uterus, or intestines. Arterial complications are...
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Genetic Analysis of Three Korean Patients with Clinical Features of Ehlers-Danlos Syndrome Type IV

Yang JH, Lee ST, Kim JA, Kim SH, Jang SY, Ki CS, Kim DK

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with...
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Anesthesia for a Cesarean Section in a Patient with Ehlers-Danlos Syndrome: A case report

Seo BS, Kim EJ, Lee JH, Lee SG, Ban JS, Min BW

Ehlers-Danlos syndrome (EDS) is an inherited connective tissue disorder characterized by skin hyperelasticity, joint hypermobility and tissue fragility. The clinical manifestations vary depending on the type of disease. Due to...
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Type II and Classical Type Ehlers-Danlos Syndrome : Report of 3 Cases & Review of Korean Cases

Lee SY, Park SH, Choi HJ, Yun SK, Kim HU, Ihm CW

  • KMID: 2116190
  • Korean J Dermatol.
  • 2006 Jul;44(7):834-838.
Ehlers-Danlos syndrome (EDS) is a group of related conditions that commonly share the decrease of the tensile strength and integrity of the skin, joints and other tissues. We report three...
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Dislocation of the Carpometacarpal Joint of the Thumb in Ehlers-Danlos Syndrome: A Case Report

Cheon SJ, Cho JY, Kang JH, Kim HT, Yoo CI

  • KMID: 2186830
  • J Korean Orthop Assoc.
  • 2005 Dec;40(7):1004-1008.
A subluxation or dislocation of the carpometacarpal joint of the thumb is a rare injury, which usually occurs from trauma. There is a relative dearth of literature about the results...
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