نتایج جستجو برای: myxoma carney complex multiple endocrine neoplasia

تعداد نتایج: 1529822  

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2008
Vania S Nunes Cláudia V Chang Gláucia M F S Mazeto Mariângela E A Marques Ana Valéria B Castro Célia R Nogueira

Carney Complex (CNC) and Multiple Endocrine Neoplasia type 1 (MEN1) are forms of multiple endocrine neoplasia of dominant autosomal inheritance. Diagnosis of CNC occurs when two major criteria (lentiginoses, primary pigmented nodular adrenocortical disease, cardiac and cutaneous myxomas, acromegaly, testicular neoplasias, thyroid cancer) are observed and/or a major criterion associated with a s...

Journal: :Archives of ophthalmology 2006
Hakan Demirci Carol L Shields Ralph C Eagle Jerry A Shields

Myxoma is a benign soft tissue tumor that presumably derives from primitive mesenchyme. It is characterized histopathologically by abundant mucoid material, a loose meshwork of reticulin fibers, and relatively small numbers of spindleand stellate-shaped cells. The stromal matrix is rich in glucosaminoglycans and hyaluronic acid, and it is sparse in collagen and vascular structures. Myxoma can a...

2013
Nikos A. Courcoutsakis Christina Tatsi Nicholas J. Patronas Chiy-Chia Richard Lee Panos K. Prassopoulos Constantine A. Stratakis

The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the...

Journal: :Acta dermato-venereologica 2013
Linda Milkova Regina Treudler Jan-Christoph C Simon Manfred Kunz

© 2013 The Authors. doi: 10.2340/00015555-1366 Journal Compilation © 2013 Acta Dermato-Venereologica. ISSN 0001-5555 The triad exophthalmus, pre-tibial myxoedema, osteoarthropathia (EMO syndrome) was first described by Thomas in 1933 and represents a rare condition occurring in patients with Graves’ disease (1). Graves’ disease is a common autoimmune disorder of the thyroid gland due to a produ...

Journal: :The journal of international advanced otology 2015
Dong Hee Lee Su Hee Jeong Hojong Kim Eunhye Shin

Myxoma is a benign connective tissue tumor that is most commonly found in the heart. Because myxoma of the external ear is extremely rare, its diagnosis may be easily delayed or it may be misdiagnosed as another disease. Moreover, because it can be a part of Carney complex (autosomal dominant syndrome), its correct diagnosis is very important. We experienced a 10-year-old girl who had a mass on...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2007
Anelia Horvath Constantine Stratakis

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing's syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules (1,2). PPNAD may occur in an isolated form or associated with a multiple neoplasia syndr...

2015
Paweł Gut Hanna Komarowska Agata Czarnywojtek Joanna Waligórska-Stachura Maciej Bączyk Katarzyna Ziemnicka Jakub Fischbach Elżbieta Wrotkowska Marek Ruchała

Neuroendocrine tumours may be associated with familial syndromes. At least eight inherited syndromes predisposing to endocrine neoplasia have been identified. Two of these are considered to be major factors predisposing to benign and malignant endocrine tumours, designated multiple endocrine neoplasia type 1 and type 2 (MEN1 and MEN2). Five other autosomal dominant diseases show more heterogene...

2017
Qiuli Liu Dali Tong Gaolei Liu Yuting Yi Dianzheng Zhang Jun Zhang Yao Zhang Zaoming Huang Yaoming Li Rongrong Chen Yanfang Guan Xin Yi Jun Jiang

RATIONALE Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS A 16-year-old boy was admitted because of excessive weight gain over 3 years and p...

2015
Hongwei Guo Jianping Xu Hui Xiong Shengshou Hu

Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic mutations in PRKAR1A that have been identified. Herein, we report on two cases of Carney complex in r...

Journal: :The Journal of clinical investigation 2000
M Casey C J Vaughan J He C J Hatcher J M Winter S Weremowicz K Montgomery R Kucherlapati C C Morton C T Basson

Cardiac myxomas are benign mesenchymal tumors that can present as components of the human autosomal dominant disorder Carney complex. Syndromic cardiac myxomas are associated with spotty pigmentation of the skin and endocrinopathy. Our linkage analysis mapped a Carney complex gene defect to chromosome 17q24. We now demonstrate that the PRKAR1alpha gene encoding the R1alpha regulatory subunit of...

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