1/16. 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 = 1keywords = physical (Clic here for more details about this article) |
2/16. 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 = 1keywords = physical (Clic here for more details about this article) |
3/16. chiropractic management of ehlers-danlos syndrome: a report of two cases.OBJECTIVE: To discuss 2 patients with ehlers-danlos syndrome seeking chiropractic evaluation and management of their disabling musculoskeletal pain and associated disorders. CLINICAL FEATURES: Two disabled patients diagnosed with Ehlers-Danlos syndrome had spinal pain, including neck and back pain, headache, and extremity pain. Commonalities among these 2 cases included abnormal spinal curvatures (kyphosis and scoliosis), joint hypermobility, and tissue fragility. One patient had postsurgical thoracolumbar spinal fusion (T11-sacrum) for scoliosis and osteoporosis. The other patient had moderate anterior head translation. INTERVENTION AND OUTCOME: Both patients were treated with mechanical force and manually assisted spinal adjustments delivered to various spinal segments and extremities utilizing an Activator II Adjusting Instrument and Activator methods chiropractic Technique. patients were also given postural advice, stabilization exercises, and postural corrective exercises, as indicated in chiropractic biophysics Technique protocols. Both patients were able to reduce pain and anti-inflammatory medication usage in association with chiropractic care. Significant improvement in self-reported pain and disability as measured by visual analog score, Oswestry Low-Back Disability Index, and neck pain Disability Index were reported, and objective improvements in physical examination and spinal alignment were also observed following chiropractic care. Despite these improvements, work disability status remained unchanged in both patients. CONCLUSION: chiropractic care may be of benefit to some patients with connective tissue disorders, including ehlers-danlos syndrome. Low-force chiropractic adjusting techniques may be a preferred technique of choice in patients with tissue fragility, offering clinicians a viable alternative to traditional chiropractic care in attempting to minimize risks and/or side effects associated with spinal manipulation. Psychosocial issues, including patient desire to return to work, were important factors in work disability status and perceived outcome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/16. Treatment of pediatric chronic pain with tramadol hydrochloride: siblings with ehlers-danlos syndrome - Hypermobility type.OBJECTIVE: To evaluate the effectiveness of tramadol hydrochloride for the treatment of chronic pain refractory to previous treatment in two pediatric patients. methods: tramadol hydrochloride was administered (50 mg/day to 150 mg/day) to two siblings with ehlers-danlos syndrome - Hypermobility type refractory to previous pharmacological treatments, and changes in pain intensity and physical activity were assessed. RESULTS: Pain intensity decreased and physical activity improved within days of starting therapy. Positive results have been maintained for 30 months. CONCLUSIONS: tramadol hydrochloride was a safe and effective treatment for relieving chronic pain in two pediatric patients suffering from the hypermobility type of ehlers-danlos syndrome. No morbidity or side effects were noted during the 30-month follow-up.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
5/16. ehlers-danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.BACKGROUND: The ehlers-danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders. periventricular nodular heterotopia (PNH) is a human neuronal migration disorder characterised by seizures and conglomerates of neural cells around the lateral ventricles of the brain, caused by FLNA mutations. FLNA encodes filamin A, an actin binding protein involved in cytoskeletal organisation. The amino-terminal actin binding domain (ABD) of filamins contains two tandem calponin homology domains, CHD1 and CHD2. OBJECTIVE: To report clinical and genetic analyses in a Spanish family affected by a connective tissue disorder suggestive of EDS type III and PNH. methods: A clinical and molecular study was undertaken in the three affected women. Clinical histories, physical and neurological examinations, brain magnetic resonance imaging studies, and skin biopsies were done. Genetic analysis of the FLNA gene was undertaken by direct sequencing and restriction fragment length polymorphism analysis. RESULTS: mutation analysis of the FLNA gene resulted in the identification of a novel mutation in exon 3 (c.383C-->T) segregating with the combination of both syndromes. This mutation results in a substitution of an alanine residue (A128V) in CHD1. CONCLUSIONS: The findings suggest that the Ala128Val mutation causes the dual EDS-PNH phenotype. This association constitutes a new variant within the EDS spectrum. This is the first description of a familial EDS-PNH association with a mutation in FLNA.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/16. The clinical presentation of ehlers-danlos syndrome.ehlers-danlos syndrome (EDS), a heterogeneous group of inheritable connective tissue disorders, is attributed to mutations in connective tissue genes. These mutations cause defects in collagen. Collagen, a connective tissue protein that acts like glue, gives strength to the body and provides support and elasticity for movement. Thus, the altered gene affects the mechanical properties of skin, joints, ligaments, and blood vessels. ehlers-danlos syndrome is transmitted through autosomal dominant, autosomal recessive, or x-linked patterns of inheritance. The life expectancy of an affected infant varies with the type of EDS. This article provides an overview of the 6 major classifications of EDS, their unique clinical presentations, a focused physical assessment guide, considerations for nursing care, and resources for parents. ehlers-danlos syndrome can be a potentially debilitating syndrome. It requires preventative and protective measures starting at birth to preserve joint function to improve infant outcomes. Caring for patients with EDS requires an understanding of the potential associated complications to help minimize the physical and emotional impact of the syndrome and improve the quality of life for affected individuals.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
7/16. Ligneous periodontitis and ehlers-danlos syndrome.BACKGROUND: Generalized membranous gingival enlargement due to an accumulation of fibrin deposits associated with severe alveolar bone loss (ligneous periodontitis) is a rare condition, and plasminogen deficiency seems to play a central role in its pathogenesis. However, this condition has not been described in association with syndromes. This article reports a case of ligneous periodontitis in a boy with the classic type of ehlers-danlos syndrome (EDS). methods: A 12-year-old white male presented with generalized gingival overgrowth and severe alveolar bone loss. A physical examination revealed clinical signs of EDS (velvety skin with mild hyperextensibility, marked hypermobility of the limb joints, atrophic scars on his knees, and easy bruising), which is associated with a positive family history for joint hypermobility. A biopsy of gingival tissues was submitted for routine histology, hematoxylin and eosin (H&E), and direct immunofluorescence (antifibrinogen). An evaluation of plasminogen activity was also performed. RESULTS: Histopathology revealed chronic periodontitis with fibrinoid material deposition, and direct immunofluorescence proved to be positive for fibrin. Functional plasminogen was reduced. A conclusive diagnosis of ligneous periodontitis due to plasminogen deficiency associated with the classic type of EDS was rendered. CONCLUSIONS: ehlers-danlos syndrome can be associated with ligneous periodontitis. In the present case, the histologic examination represented an important tool in the differential diagnosis, because it ruled out EDS type VIII as the associated systemic factor to periodontal breakdown.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/16. Type III collagen mutations cause fragile cerebral arteries.Premature vascular aneurysms and fragility of cerebral arteries are commonly associated with type III collagen mutations and physical signs suggesting a generalized abnormality of connective tissue. Sometimes these traits are clearly genetically transmitted. Here we present seven examples of early cerebrovascular aneurysms or fragility including five examples of carotid cavernous sinus aneurysms. With one exception in which we suspect the mutation is too small to be detected, all of them had easily visible abnormalities of their type III collagen proteins. Further work in progress will eventually allow the characterization of their mutations at gene sequence level and will be followed by the ability to prevent transmission of the mutant genes in these families.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/16. Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII ehlers-danlos syndrome.A unique patient with type VIII ehlers-danlos syndrome and cutaneous vasculitis, resorptive osteolysis, and cardiac valvular disease is described. Collagen analyses identified morphologic and physical abnormalities of type I collagen. The patient's T lymphocytes could be propagated in vitro with type I collagen and produced a 60-kd lymphokine that bound this protein. Cellular autoimmunity to type I collagen may be responsible for this patient's intractable clinical condition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/16. The wrinkly skin syndrome: a report of a case and review of the literature.A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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