• 대한수의학회지
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• 제47권1호
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• pp.91-94
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• 2007

tisue disease of dog and cat, resembling Ehlers-Danlos syndrome (EDS) in man. EDS is characterizedby loose, hyperextensible and, fragile skin, it is attributed to mutations in connective tisue gene. Thesemutations cause defects in type I or II collagen synthesis and as a result lack of strength or elasticityto skin, joint, ligament and vessels. EDS-affected animals often experience subcutaneous hematomas thathave long bleeding times. The 4-years old male Yorkshire terrier was evaluated because of subcutaneoushematoma after stifle surgery. Clinical examination revealed a thin and hyperextensible skin and jointlaxity. The degree of skin extensibility index was 23.4%, marked skin stretchy. Clinical diagnosis wasconfirmed by histophathological examination of a skin biopsy revealing reduced packing density ofcollagen fiber of skin.

• Journal of Korean Neurosurgical Society
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• 제55권2호
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• pp.92-95
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• 2014

Ehlers-Danlos syndrome (EDS) is a rare inherited connective disease. Among several subgroups, type IV EDS is frequently associated with spontaneous catastrophic bleeding from a vascular fragility. We report on a case of carotid-cavernous fistula (CCF) in a patient with type IV EDS. A 46-year-old female presented with an ophthalmoplegia and chemosis in the right eye. Subsequently, seizure and cerebral infarction with micro-bleeds occurred. CCF was completely occluded with transvenous coil embolization without complications. Thereafter, the patient was completely recovered. Transvenous coil embolization can be a good treatment of choice for spontaneous CCF with type IV EDS. However, every caution should be kept during invasive procedure.

• Journal of Yeungnam Medical Science
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• 제33권1호
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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.

• 대한두개안면성형외과학회지
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• 제20권2호
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• pp.130-133
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• 2019

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, other organs such as the eyes and the intestine can be affected in this syndrome. Accordingly, interdisciplinary cooperation is necessary for a successful treatment. Three basic surgical problems are arising due to an EDS: decreased the strength of the tissue causes making the wound dehiscence, increased bleeding tendency due to the blood vessel fragility, and delayed wound healing period. Surgery patients with an EDS require an experienced surgeon in treating EDS patients; the treatment process requires careful tissue handling and a long postoperative care. A surgeon should also recognize whether the patient shows a resistance to local anesthetics and a high risk of hematoma formation. This report describes a patient with a wide open wound on the foot dorsum and delayed wound healing after the primary approximation of the wound margins.

• Journal of Korean Neurosurgical Society
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• 제48권6호
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• pp.528-531
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• 2010

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 the leading cause of death in vascular EDS because they are unpredictable and surgical repair is difficult due to tissue fragility. The authors report a case presented with cervical radiculopathy due to a segmental fusiform aneurysm of the cervical vertebral artery. Transfemoral cerebral angiography (TFCA) was done to verify the aneurysmal dilatation. However, during TFCA, bleeding at the puncture site was not controlled, skin and underlying muscle was disrupted and profound bleeding occurred during manual compression after femoral catheter removal. Accordingly, surgical repair of the injured femoral artery was performed. At this time it was possible to diagnose it as an EDS with fusiform aneurysm on cervical vertebral artery. Particularly, cervical fusiform aneurysm is rare condition, and therefore, connective tissue disorder must be considered in such cases. If connective tissue disorder is suspected, the authors suggest that a noninvasive imaging modality, such as, high quality computed tomography angiography, be used to evaluate the vascular lesion to avoid potential arterial complications.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.43-47
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• 2019

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 onset in the childhood or adolescence. In a recent report, heterozygous variants of the C1R or C1S related to the classical complement pathway were identified in families with history of EDS VIII. The current report describes a Korean 34-year-old female carrying a novel missense variant of C1R c.925T>G (p.Cys309Gly) and exhibiting early severe periodontitis, skin fragility, and joint hypermobility. The patient also had frontal, parietal, and temporal white matter brain lesions without definite vascular abnormalities on brain magnetic resonance imaging, which have not been surveyed meticulously in EDS VIII. Considering the genetic alteration of classic complement pathways in this condition, it is necessary to carefully observe multisystemic inflammation processes such as changes in brain white matter.

• 한국임상수의학회지
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• 제41권2호
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• pp.101-105
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• 2024

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder in dogs and cats and has been mostly reported in purebred cats. In this study, we report a case of a 1-year-old castrated male Korean shorthair cat, who presented with multiple small skin tears and bruises distributed over the entire trunk area. The cat's skin was hyperextensible and easily torn with gentle touch. The skin extensibility index of the cat was 25%, indicating the possibility of EDS. The cat exhibited no signs of pruritus or inflammation, and no underlying disease was found. However, radiography revealed hip joint subluxation and arthritis. Following this, biopsy of the lacerated skin was performed. Histopathological examination of the skin revealed that in the dermis adjacent to the lesions, the collagen fibers were irregular in size and width, with a slightly thinner epidermis, and increased interfibrillar spaces containing low numbers of scattered well-differentiated fibroblasts and mast cells. Histopathological examination of the skin confirmed EDS. The symptoms observed in the cat, including skin hyperextensibility, multiple bruising, hip joint subluxation, and arthritis, corresponded to the classical subtype of EDS in humans. Thus, this study is a rare report of a classical EDS case in a Korean shorthair cat. This study suggests that skin extensibility index and biopsy are useful diagnostic procedures for confirming EDS in animals until a more definitive genetic test is established.

• The Korean Journal of Legal Medicine
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• 제40권2호
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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.

• 대한장애인치과학회지
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• 제8권2호
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• pp.127-133
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• 2012

EDS는 관절의 과운동성, 피부의 과신장, 조직 약화 등을 임상적 특징으로 하는 유전 질환이다. 피부, 골격, 근육, 인대, 점막, 혈관 등을 구성하는 교원질의 합성 과정과 관련된 유전자의 결함으로 결합조직이 비정상적으로 변하므로 신체 전반에 걸쳐 그 증상이 나타난다. 구강 영역에서도 교원 질과 관련된 조직에 영향을 받게 된다. 구강 점막, 치주 조직, 측두하악관절 및 치아 경조직에 문제가 발생할 수 있으므로, 총체적이고 정기적인 구강관리가 이루어져야 한다. 이번 증례와 같이 EDS에 의해 치아의 맹출 장애가 발생하고, 치은비대, 유착, 매복, 선천적 결손치, 부정교합 등이 관찰되는 경우에도 구강 위생 관리와 함께 장기적인 계획 하에 맹출 관리 및 치료가 요구된다. EDS 환아의 치과 치료시에는 질환의 원인과 전신적 특징에 대한 이해를 바탕으로, 비정상적 교원질 대사에 의해 약화된 점막과 치주조직, 지혈 관리, 반흔 형성 및 측두하악관절에 대한 종합적인 고려와 지속적인 관리가 필요하다.

• Journal of Dental Anesthesia and Pain Medicine
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• 제19권5호
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• pp.261-270
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• 2019

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 how to interpret this apparent LA resistance, as comparison of EDS and non-EDS patient experience is limited to anecdotal evidence and small case series. The primary goal of this hypothesis-generating study was to investigate the recalled adequacy of pain prevention with LA administered during dental procedures in a large cohort of people with and without EDS. A secondary exploratory aim asked people with EDS to recall comparative LA experiences. Methods: We administered an online survey through various social media platforms to people with EDS and their friends without EDS, asking about past dental procedures, LA exposures, and the adequacy of procedure pain prevention. Among EDS respondents who both received LA and recalled the specific LA used, we compared agent-specific pain prevention for lidocaine, procaine, bupivacaine, mepivacaine, and articaine. Results: Among the 980 EDS respondents who had undergone a dental procedure LA, 88% (n = 860) recalled inadequate pain prevention. Among 249 non EDS respondents only 33% (n = 83) recalled inadequate pain prevention (P < 0.001 compared to EDS respondents). The agent with the highest EDS-respondent reported success rate was articaine (30%), followed by bupivacaine (25%), and mepivacaine (22%). Conclusions: EDS survey respondents reported nearly three times the rate of LA non-response compared to non-EDS respondents, suggesting that LAs were less effective in preventing their pain associated with routine office dental procedures.