1/147. connective tissue metabolism in culture fibroblasts of a patient with ehlers-danlos syndrome type I.Study on connective tissue metabolism was conducted with a patient with ehlers-danlos syndrome (E-D) of Type I who visited our institute. The conversion of procollagen into tropocollagen in the medium of cultured fibroblasts was assayed by the chase technique using 3H-proline. The conversion was inhibited in the cultured fibroblasts of the patient. The components of glycosaminoglycans in cultured medium and fibroblasts from E-D were within normal ranges, however, the ratio of glycoprotein to glycosaminoglycans of intra- and extra-cellular fractions of E-D fibroblasts was higher than the normal one. These findings suggest that the insufficient maturation of collagen fiber may be considered fundamental disorders of E-D.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
2/147. Preterm premature rupture of membranes in a patient with the hypermobility type of the ehlers-danlos syndrome. A case report.OBJECTIVES: This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the ehlers-danlos syndrome (EDS), a heritable disorder of connective tissue. Although various obstetrical complications have been reported in patients with EDS, most reports specifically comment on the severe complications in patients with the vascular type of EDS, including uterine and arterial rupture. pregnancy outcome in patients presenting the hypermobility type of EDS is poorly documented. CASE: A 33-year-old nullipara was referred for preconceptual genetic counseling with a history of easy bruising, generalized joint hypermobility and chronic arthralgia and myalgia. The diagnosis of the hypermobility type of EDS was confirmed on clinical examination. During her first pregnancy, she underwent a prophylactic McDonald cerclage at 14 weeks' gestation. Premature rupture of membranes occurred at 23 weeks' gestation. A female infant was delivered at 26 weeks and died 3 h after birth. Electron-microscopic examination showed collagen fibre abnormalities in the fetus' skin, which were compatible with the diagnosis of EDS. CONCLUSIONS: patients with the hypermobility type of EDS can have an increased risk for pregnancy complications, including prematurity due to cervical incompetence and to premature rupture of membranes. We therefore demand the clinician's alertness for possible signs of this underdiagnosed type of EDS and recommend the collaboration between the obstetrician and the medical geneticist in the obstetrical management of these patients.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
3/147. Abnormal presentation in labor and fetal growth of affected infants with type III ehlers-danlos syndrome.Information about labor presentation and birth weight of infants with connective tissue disorders such as ehlers-danlos syndrome is scarce. We report a case of abnormal fetal presentation and decreased birth weight in 2 infants affected by type III ehlers-danlos syndrome; their siblings were unaffected.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
4/147. headache in ehlers-danlos syndrome.OBJECTIVE: ehlers-danlos syndrome (EDS) is a complex hereditary connective tissue disorder with neurologic manifestations that include cerebrovascular disorders and chronic pain. The clinical data collected on 18 patients with EDS and chronic headaches is reported. PROCEDURE: Clinical history, neurologic examination, computerized tomography of the head, magnetic resonance imaging (MRI) of the brain, and electroencephalogram (EEG). Headaches were classified according to the International headache Society and the patients were followed by the author for a minimum of 2 years. FINDINGS: Four patients had migraine with aura, four had migraine without aura, four had tension headaches, four had a combination of migraine and tension headaches, and two had post-traumatic headaches. Nine patients exhibited blepharoclonus but none had history of seizures and their EEGs were normal, ruling out eye closure epilepsy. Although one patient had a small right frontal angioma, a second had Arnold Chiari malformation type I, and a third had an old stroke, headaches did not clinically correlate with their central nervous system (CNS) lesions. CONCLUSION: Chronic recurrent headaches may constitute the neurologic presentation of EDS in the absence of structural, congenital, or acquired CNS lesions that correlate with their symptoms. Individuals with EDS may be prone to migraine due to an inherent disorder of cerebrovascular reactivity or cortical excitability. Additional studies are needed to elucidate the pathogenesis of headaches in EDS.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
5/147. Bilateral focal polymicrogyria in ehlers-danlos syndrome.BACKGROUND: ehlers-danlos syndrome (EDS) is a heterogeneous group of generalized connective tissue disorders that has been described in association with epilepsy and cerebral cortical dysplasia, mostly gray matter heterotopias, in 3 reports. However, to our knowledge, association of EDS with another type of cortical cerebral dysplasia, bilateral focal polymicrogyria, has never previously been described. SETTING: Two research-oriented hospitals. patients: We describe 2 patients with EDS and bilateral polymicrogyria. The first, a 29-year-old black man, presented with EDS of unspecified type, seizures, and bilateral frontocentral and frontoposterior polymicrogyria with hypoplasia of the inferior part of the cerebellar vermis. The second, a 20-year-old woman, had type III EDS, seizures and congenital bilateral perisylvian syndrome with polymicrogyria. CONCLUSIONS: The association of bilateral focal polymicrogyria and EDS in these 2 patients suggests that extracellular matrix proteins implicated in the pathogenesis of EDS, such as collagen and tenascin, may play an important role in cerebral cortical formation and organization. In a clinical setting, the association of EDS with these cortical structural lesions has implications for diagnosis and management.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
6/147. Malignant mesothelioma in subjects with Marfan's syndrome and ehlers-danlos syndrome: only an apparent association?Malignant mesothelioma is a rare neoplasm which could be favored by an hereditary predisposing factor. So far, malignant mesothelioma have never been described in patients with hereditary diseases of the connective tissue. Here, we report some cases of mesothelioma affecting subjects who were not exposed to inhalation of asbestos. One of these subjects was affected by ehlers-danlos syndrome, whereas in two brothers, mesothelioma was associated with Marfan's syndrome. The observation of the same histologic subtype of mesothelioma in two brothers and the coexistence of two pathologic conditions of mesodermal origin indicate the presence of hereditary factors predisposing to the cancerogenic action of even small amounts of asbestos. Structural alterations of collagen and primary immunodeficiency may represent the host factor inducing development of the neoplasm. We conclude that the association between these rare disorders of the connective tissue and mesothelioma may not be coincidental, but could be the result of the exposition to small amounts of asbestos in predisposed individuals.- - - - - - - - - - ranking = 2keywords = connective (Clic here for more details about this article) |
7/147. Remote vascular catastrophes after neurovascular interventional therapy for type 4 ehlers-danlos syndrome.Type 4 ehlers-danlos syndrome (EDS 4) is the most malignant form of ehlers-danlos syndrome, often accompanied by neurovasacular complications secondary to vessel dissection or aneurysms. The fragile nature of connective tissue in these patients makes exovascular and endovascular treatment hazardous. We have treated four patients with EDS 4 over the last 8 years by using neuroendovascular procedures. Two of these individuals suffered remote vascular injuries around the time of their procedures and ultimately died. The circumstances surrounding their deaths will make up the body of this report.- - - - - - - - - - ranking = 1keywords = connective (Clic here for more details about this article) |
8/147. Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers-Danlos syndrome type IV: report of a case.ehlers-danlos syndrome (EDS) is an inherited disorder of connective tissue characterized by hyperextensible skin, hypermobile joints, and abnormalities of the cardiovascular system. Ten types and several subtypes of EDS have so far been recognized based on genetic, clinical, and biochemical characteristics. The spectrum of the disorder varies from mild to life-threatening vascular complications. EDS type IV is a particularly dangerous form with a lethal spontaneous rupture of the major arteries and aneurysmal formation. We present herein a case of a ruptured dissecting aneurysm in the bilateral iliac arteries caused by EDS type IV. A previously healthy 33-year-old man without any physical features of this connective tissue disorder experienced a metachronous vascular rupture two times. Successful synthetic bypass grafting was performed with great difficulty. The diagnosis of EDS type IV was made afterwards based on an electrophoresis analysis of a skin biopsy specimen which revealed a lack of type III collagen. Surgical intervention in cases of arterial complications in EDS type IV patients have been reported to be both difficult and frequently unsuccessful. The early clinical recognition of this syndrome is therefore of great importance due to the hazards of such surgical therapies.- - - - - - - - - - ranking = 2keywords = connective (Clic here for more details about this article) |
9/147. Ehlers-Danlos type VIII. review of the literature.Ehlers-Danlos type VIII is a rare disorder characterized by soft, hyperextensible skin, abnormal scarring, easy bruising, and generalized periodontitis with early loss of teeth. To illustrate the clinical dermatological and dental features, we present the case history of a 20-year-old patient who has suffered from poor healing of wounds at the shins and knees since childhood, which have developed into hyperpigmented atrophic scars. In the course of orthodontic treatment during the last 3 years, severe apical root resorption, gingival recession, and loss of alveolar bone were observed. family history was noncontributory for any skin or tooth disorders. The typical clinical signs confirmed the diagnosis of ehlers-danlos syndrome type VIII. As there is no specific treatment for the disorder, management is limited to the symptomatic treatment of the dental disease. It seems advisable to consider carefully the indications for orthodontic treatment in patients with Ehlers-Danlos type VIII syndrome.- - - - - - - - - - ranking = 9.6795299432284E-5keywords = soft (Clic here for more details about this article) |
10/147. ehlers-danlos syndrome type IV and multiple aortic aneurysms--a case report.Beside atherosclerosis, aortic aneurysms can be part of the clinical spectrum of many systemic diseases, including infectious, inflammatory, genetic and, less often, congenital disorders. A 48-year-old white man presented with multiple large aneurysms of the aorta and its main branches. Medical history was unremarkable except for the presence of a softened abdominal mass since he was 28 years old. On the physical examination, an arterial murmur was heard over the left carotid artery and a palpable mass was noted in the whole right side of the abdomen. No skin or joint abnormalities were noted. aortography, computed tomography, and magnetic resonance angiography showed multiple large aneurysms of the descending thoracic and abdominal aorta. Aneurysms of the innominate, left subclavian, and carotid arteries were also seen. This case resembles those previously reported, in which multiple aortic aneurysms were associated with abnormalities of the type III procollagen gene (COL3A1). Although the classic stigmas of the ehlers-danlos syndrome type IV were lacking, this genetic disease may be the cause of the multiple aneurysms in this patient.- - - - - - - - - - ranking = 9.6795299432284E-5keywords = soft (Clic here for more details about this article) |
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