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Desmoplastic fibroma of the jaw associated with tuberous sclerosis. Literature review and case report. Acosta Feria 1 , P. Carranza Carranza 3 , J.

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Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol ; Pathol Int ; Lymphangioleiomyomatosis: new insights. Daniel R, Teba L. Spontaneous pneumothorax and alpha 1-antitrypsin deficiency.

Respir Care ; Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg ; Pneumothorax in the Ehlers-Danlos syndrome. Ir J Med Sci ; Bilateral spontaneous pneumothorax as the presenting feature in lymphangioleiomyomatosis. Respir Med; Pneumothorax in pulmonary Langerhans cell histiocytosis.

Chest ; Pneumothorax in cystic fibrosis. Pulmonary tuberous sclerosis. Report of three patients and a review of the literature. Q J Med ; Loh C, Sadler MA. Pulmonary lymphangioleiomyomatosis and a solitary renal angiomyolipoma in a year-old woman who presented with spontaneous pneumothorax. Emerg Radiol ; Tuberous sclerosis with bilateral renal angiolypoma and repeating pneumothorax.

A case report. Nishinihon Journal of Urology ; High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc ; Spontaneous pneumothorax associated with tuberous sclerosis.

J Thorac Cardiovasc Surg ; Narayan RL. Images in clinical medicine. Spontaneous pneumothorax in tuberous sclerosis. N Engl J Med ;

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Tuberous sclerosis

Tuberous sclerosis complex TSC is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys , heart , liver , eyes , lungs and skin. A combination of symptoms may include seizures , intellectual disability , developmental delay , behavioral problems, skin abnormalities, lung disease, and kidney disease. TSC is caused by a mutation of either of two genes , TSC1 and TSC2 , which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms. Prognosis is highly variable and depends on the symptoms, but life expectancy is normal for many. The prevalence of the disease is estimated to be 7 to 12 in , The physical manifestations of TSC are due to the formation of hamartia malformed tissue such as the cortical tubers , hamartomas benign growths such as facial angiofibroma and subependymal nodules , and very rarely, cancerous hamartoblastomas. The effect of these on the brain leads to neurological symptoms such as seizures, intellectual disability, developmental delay, and behavioral problems.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Tuberous sclerosis complex TSC is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. TSC is characterized by multisystem hamartomas, most commonly skin, brain, kidney, lung and heart, appearing at different ages.

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Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol ; Pathol Int ; Lymphangioleiomyomatosis: new insights. Daniel R, Teba L.

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