نتایج جستجو برای: carney complex
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Carney complex is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, that is characterized by lentigines, cardiac myxoma, and numerous endocrine and other tumors, including primary pigmented nodular adrenocortical disease. Here, we describe a typical case of Carney complex in a 27-year-old female who exhibited spotty skin pigmentation on the lips, oral mucosa, fingers, an...
PURPOSE Since the identification of PRKAR1A mutations in Carney complex, substitutions and small insertions/deletions have been found in approximately 70% of the patients. To date, no germ-line PRKAR1A deletion and/or insertion exceeded a few base pairs (up to 15). Although a few families map to chromosome 2, it is possible that current sequencing techniques do not detect larger gene changes in...
Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms...
A case of Carney complex in a Korean patient is presented. The patient had the characteristics of Carney complex including skin lesions, positive family history, and multiple myxomas including a superficial angiomyxoma in the perianal area. An extensive genetic analysis revealed a novel mutation in the protein kinase A type I-a regulatory subunit (PRKAR1A) gene, but not in the phosphodiesterase...
سندرم کارنی (carney complex) یک سندرم اتوزومال غالب است که با تومورهای مختلف شامل میکزوما در محل های متفاوت، تومورهای اندوکرین و ضایعه های لنتیگو مشخص می شود و تاکنون در ایران گزارش نشده است. بیماری که دراین مقاله معرفی می شود، زن 27 ساله ای است که با علایم درد پهلو، مراجعه کرده بود. در معاینه با توجه به علایم هیرسوتیسم، چاقی تنه ای، هیپرپیگمانتاسیون و هیپرتانسیون، سندرم کوشینگ مطرح شد و با آزم...
INTRODUCTION Carney complex is an autosomal dominant syndrome with multiple neoplasms in different sites, including myxomas, endocrine tumors and lentigines lesions. To the best of our knowledge, this is the first report of Carney complex presenting with a unilateral adrenal adenoma associated with a pituitary incidentaloma. CASE PRESENTATION A 27-year-old Iranian woman was referred to our en...
BACKGROUND Intracardiac myxomas are significant causes of cardiovascular morbidity and mortality through embolic stroke and heart failure. In the autosomal dominant syndrome Carney complex, intracardiac myxomas arise in the setting of lentiginosis and other lesions associated with cutaneous hyperpigmentation, extracardiac myxomas, and nonmyxomatous tumors. Genetic factors that regulate cardiac ...
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