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Ectopic Cushing's syndrome in a patient with metastatic Merkel cell carcinoma:A case report

World Journal of Clinical Cases 2022年第22期10卷 7989-7993页

作者： Avraham Ishay Elia Touma Olga Vornicova Roni Dodiuk-Gad Tal Goldman Naiel Bisharat Endocrine and Diabetes Unit Emek Medical CenterAfula 18134Israel Ruth and Bruce Rappaport Faculty of Medicine Technion-Israel Institute of TechnologyHaifa 3200003Israel Department of Internal Medicine D Emek Medical CenterAfula 18134Israel Department of Oncology Emek Medical CenterAfula 18134Israel Department of Dermatology Emek Medical CenterAfula 18134Israel Department of Pathology Emek Medical CenterAfula 18134Israel Department of Medicine D Emek Medical CenterAfula 18134Israel

BACKGROUND Ectopic Cushing syndrome(ECS)is a rare condition commonly associated with neuroendocrine tumors(NET),mainly bronchial *** association of paraneoplastic syndrome with Merkle cell carcinoma(MCC)is limited to individual case *** SUMMARY In this article we report an unusual and striking presentation of ECS in a patient with known metastatic *** elderly patient presented with new onset severe hypertension,hyperglycemia and hypokalemia,muscle wasting,and peripheral edema.A diagnosis of adrenocorticotropic hormone dependent,non-pituitary,Cushing syndrome was *** therapy inhibiting adrenal function was promptly started but unfortunately the patient survived only a few days after *** The occurrence of an aggressive form of ECS in patients with NET should be recognized as an ominous *** our knowledge,the association of this complication in a patient with MCC had not been reported.

关键词： Merkle cell carcinoma Paraneoplastic syndrome Ectopic Cushing's syndrome Neuroendocrine tumor hypercortisolism Skin cancer Case report

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Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations:A case report

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World Journal of Clinical Cases 2020年第23期8卷 6197-6205页

作者： Tiao Lin Xin-Yu Li Chang-Ye Zou Wei-Wei Liu Jun-Fan Lin Xin-Xin Zhang Si-Qi Zhao Xian-Biao Xie Gang Huang Jun-Qiang Yin Jing-Nan Shen Department of Musculoskeletal Oncology The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhou 510080Guangdong ProvinceChina Zhongshan School of Medicine Sun Yat-sen UniversityGuangzhou 510080Guangdong ProvinceChina

BACKGROUND Polyostotic fibrous dysplasia(PFD)is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral *** etiology of PFD is unclear,but it is generally thought to be caused by sporadic,post-zygotic mutations in the GNAS ***,we report the case of a young female with bone pain and lesions consistent with PFD,unique physical findings,and gene *** SUMMARY A 27-year-old female presented with unbearable bone pain in her left foot for 4 *** bone lesions were detected by radiographic examinations,and a diagnosis of PFD was made after a biopsy of her left calcaneus with symptoms including pre-axial polydactyly on her left hand and severe ophthalmological problems such as high myopia,vitreous opacity,and choroidal *** serum cortisol level was high,consistent with Cushing *** to consanguineous marriage of her grandparents,boosted whole exome screening was performed to identify gene *** results revealed mutations in HSPG2 and RIMS1,which may be contributing factors to her unique *** The unique findings in this patient with PFD may be related to mutations in the HSPG2 and RIMS1 genes.

关键词： Polyostotic fibrous dysplasia Genetic mutation hypercortisolism Drug resistance Ophthalmological problems Case report

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