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Eruptive xanthomas in a patient with severe hypertriglyceridemia:A case report
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作者 Ci Ren Ling Zhu +3 位作者 Yan-Chao Niu Lian-Yu Tu Zhou-Feng Jin Jian Zhang 《World Journal of Clinical Cases》 SCIE 2024年第16期2842-2846,共5页
BACKGROUND Xanthomatosis,a metabolic disorder causing yellow growths(xanthomas),poses challenges in lipid metabolism.This case study introduces the first documented instance within China's Yi population,emphasizin... BACKGROUND Xanthomatosis,a metabolic disorder causing yellow growths(xanthomas),poses challenges in lipid metabolism.This case study introduces the first documented instance within China's Yi population,emphasizing the need to explore dietary habits and treatment strategies tailored to this specific community.CASE SUMMARY Xanthomatosis is a metabolic disorder where lipid metabolism goes awry,resulting in the development of yellowish growths called xanthomas.A male patient,47 years of age,from China's Yi population,who is obese,visited our dermatology clinic complaining of widespread,non-painful rashes that have been present for two weeks.The patient works as a chef and has a diet that frequently includes oily and greasy foods.This case represents the initial documentation of xanthomatosis within the Yi population in China,offering a theoretical foundation for understanding dietary patterns and treatment options specific to the Yi community.CONCLUSION The first report of xanthomatosis in the Yi population in China lays a theoretical foundation for understanding Yi dietary patterns and treatment. 展开更多
关键词 Eruptive xanthomas HYPERTRIGLYCERIDEMIA Yi ethnicity DERMATOLOGY Chef Case report
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Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation:A case report
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作者 Yue-Yue Chang Chuan-Qing Yu Lei Zhu 《World Journal of Clinical Cases》 SCIE 2022年第29期10681-10688,共8页
BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of chol... BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of cholesterol to chenodeoxycholic and cholic acids.Cerebrotendinous xanthomatosis is a rare neurological dis-ease with a wide range of clinical symptoms that are easily misdiagnosed.CASE SUMMARY Here we report the clinical,biochemical,and molecular characterization of a 33-year-old female patient with cerebrotendinous xanthomatosis.The patient developed ataxia and had the typical symptoms of juvenile cataracts,tendon xanthomata,and progressive nervous system dysfunction.Magnetic resonance imaging of the brain revealed bilateral dentate nucleus lesions and white matter abnormalities.This patient was misdiagnosed for 2 years resulting in severe neurological complications.After 2 years of chenodeoxycholic acid treatment,she still presented with ataxia and dysarthria.The pathogenic sites of CYP27A1 were identified as c.255+1G>T and c.1263+1G>T,which were both caused by shear denaturation.CONCLUSION Cerebrotendinous xanthomatosis requires a multidisciplinary diagnosis that must be made early to avoid progressive neurological degeneration.c.1263+1G>T is a known mutation,but c.255+1G>T is a rare mutation site. 展开更多
关键词 Cerebrotendinous xanthomatosis CYP27A1 gene ATAXIA Juvenile cataracts Tendon xanthoma Lipid metabolism Case report
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Bilateral Achilles Tendon Xanthoma in an 18-Year-Old Patient
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作者 S. K. Venkatesh Gupta B. Sahithya S. P. Prashanth 《Open Journal of Orthopedics》 2017年第4期110-116,共7页
Background: Xanthomas are rare, non-neoplastic lesions which occur due to defect in the LDL receptors leading to their accumulation in tendons and synovium. The prevalence of heterozygous familial hypercholesterolaemi... Background: Xanthomas are rare, non-neoplastic lesions which occur due to defect in the LDL receptors leading to their accumulation in tendons and synovium. The prevalence of heterozygous familial hypercholesterolaemia (HFH) is approximately 1 in 500. Aim: To study a rare case of bilateral achilles tendon xanthoma and its functional outcome. Case Presentation: We presented a case of xanthoma over posterior aspect of both lower third legs just above the heel in an 18-year-old female, and diagnosis was confirmed by clinical examination ultrasound and MRI, for which subtotal resection was planned and further followed up. Postoperative treatment consisted of six weeks long leg cast immobilization. After 10 weeks the patient started walking without any difficulties. Conclusion: Subtotal resection of achilles tendon xanthoma has given a good functional outcome. There is no need for reconstruction of tendon in every case. 展开更多
关键词 ACHILLES TENDON xanthoma Low Density LIPOPROTEIN Magnetic Resonance Imaging Ultrasound
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Histopathological, Immunohistochemical and Exfoliative Cytological Studies of Oral Verruciform Xanthoma
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作者 Tadahiko Utsunomiya Takashi Matsumoto +6 位作者 Miyuki Morikawa Masaaki Suemitsu Hidekuni Tanaka Yasuto Ota Takaaki Saito Hirotsugu Yamamoto Kayo Kuyama 《Open Journal of Stomatology》 2014年第9期435-440,共6页
Verruciform xanthoma is a rare tumor-like lesion, predominantly affecting the oral mucosa. Although several studies of verruciform xanthoma have been reported, the characteristic features and pathogenesis have not bee... Verruciform xanthoma is a rare tumor-like lesion, predominantly affecting the oral mucosa. Although several studies of verruciform xanthoma have been reported, the characteristic features and pathogenesis have not been fully clarified. The purpose of the present study is to perform immunohistochemical analysis using markers of proliferative cell activity and cytokeratins, and to perform comparative analysis between cytological and histological features in order to clarify the characteristic features of verruciform xanthomas. Histological findings showed exophitic proliferation of stratified squamous epithelium and accumulation of foamy macrophages between epithelial processes. Immunohistochemically, accumulated foamy cells showed positive immuno-reactivity for CD68, and positive cells were also present in the epithelium. Expression of pancy-tokeratin was observed in most layers of the epithelium, whereas cytokeratin 13 was also detected in prickle cell layers. Positive reactivity for Ki-67 was observed in epithelial cell nuclei. Positive reactivity was largely distributed in basal and/or parabasal cell layers, and the positive cell rate was 20%. In addition, exfoliative cytological findings showed hyperkeratotic epithelial cells with picnosis, thus suggesting the characteristics of hyperplastic epithelium in verruciforma, although foamy cells were not observed in the cytological specimens. These results suggest that benign morphological characteristics with local cellular immune response of verruciform xanthoma may be evaluated based on immunohistochemical expression of cytokeratin and Ki-67, as well as exfoliative cytological findings. 展开更多
关键词 ORAL Verruci Form xanthoma Histopathology Immunohistochemistry EXFOLIATIVE CYTOLOGY
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Diffuse xanthoma in early esophageal cancer: A case report
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作者 Xiao-Yun Yang Kuang-I Fu +2 位作者 Yan-Ping Chen Zhen-Wei Chen Jing Ding 《World Journal of Clinical Cases》 SCIE 2021年第19期5259-5265,共7页
BACKGROUND Gastrointestinal xanthomas are asymptomatic and infrequent non-neoplastic lesions that commonly occur in the stomach with Helicobacter pylori-associated gastritis and rarely in the esophagus.To date,there h... BACKGROUND Gastrointestinal xanthomas are asymptomatic and infrequent non-neoplastic lesions that commonly occur in the stomach with Helicobacter pylori-associated gastritis and rarely in the esophagus.To date,there have been no reports of esophageal xanthoma combined with esophageal cancer.Herein,we present the first case in the literature of a diffuse xanthoma complicated with early esophageal cancer.Moreover,this combination makes the endoscopic diagnosis difficult if it is not in mind.CASE SUMMARY A 68-year-old man visited our department with a 2-mo history of epigastric discomfort.He underwent surgery for gastric cancer 6 years ago.Esophagogastroduodenoscopy showed a semi-circumferential irregular yellowish-colored and granular lesion in the esophagus(30-35 cm from the incisors).Using magnifying endoscopy with narrow band imaging,aggregated minute and yellowish-colored spots with tortuous microvessels on the surface were observed,and background coloration was clearly seen in the lesion.As endoscopic biopsy suggested a histologically high-grade dysplasia;the lesion was completely resected en bloc by endoscopic submucosal dissection(ESD).The resected specimen was confirmed to be a squamous cell carcinoma in situ with extensive foamy cells in the superficial mucosal layer.Immunohistochemically,the observed foamy cells were strongly positive for CD68,which is characteristic of xanthoma.The clinical course was favorable,and no recurrence was observed 2 years and 7 mo after ESD.CONCLUSIONDiffuse xanthoma concurrent with early esophageal cancer is extremely rare.The characteristic endoscopic features may assist endoscopists in diagnosing similar lesions. 展开更多
关键词 Esophageal xanthoma Early esophageal cancer Magnifying endoscopy Endoscopic submucosal dissection Case report
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Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas:A case report
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作者 Han-Shi Zeng Zhan-Hui Zhang +4 位作者 Yan Hu Gui-Lang Zheng Jing Wang Jing-Wen Zhang Yu-Xiong Guo 《World Journal of Clinical Cases》 SCIE 2022年第25期8932-8938,共7页
BACKGROUND Alagille syndrome(ALGS)is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormal... BACKGROUND Alagille syndrome(ALGS)is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene.It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems,such as the cardiovascular,skeletal,and urinary systems.CASE SUMMARY We report a rare case of ALGS.A 1-month-old male infant presented with sustained jaundice and had a rare congenital heart disease:Total anomalous pulmonary venous connection(TAPVC).Sustained jaundice,particularly with cardiac murmur,caught our attention.Laboratory tests revealed elevated levels of alanine aminotransferase,aspartate aminotransferase,gamma-glutamyl transpeptidase,total bilirubin,and total bile acids,indicating serious intrahepatic cholestasis.Imaging confirmed the presence of butterfly vertebra at the seventh thoracic vertebra.This suggested ALGS,which was confirmed by genetic testing with a c.3197dupC mutation in the JAG1 gene.Ursodiol was administered immediately after confirmation of the diagnosis,and cardiac surgery was performed when the patient was 1.5 month old.He recovered well after treatment and was discharged at the age of 3 mo.At the age of two years,the patient returned to our clinic because multiple cutaneous nodules with xanthomas appeared,and their size and number increased over time.CONCLUSION We report a unique case of ALGS associated with TAPVC and severe xanthomas.This study has enriched the clinical manifestations of ALGS and emphasized the association between JAG1 gene and TAPVC. 展开更多
关键词 Alagille syndrome JAG1 gene Notch signaling pathway Total anomalous pulmonary venous connection Severe xanthomas Case report
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Bilateral Tibial Xanthoma in a Normolipidemic Patient—Report of a Rare Case with Review of Literature
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作者 Vallabhaneni Kalyan Chakravarthi E. Aruna +1 位作者 Damera Naveen Chandra Rao Diddi Ranga Rao 《International Journal of Clinical Medicine》 2012年第3期234-237,共4页
Xanthoma of bone is a rare benign bone disorder. It radiologically presents as a lytic lesion, often with cortical expansion or disruption, mimics primary bone tumors and metastatic lesions. Histopathological study gi... Xanthoma of bone is a rare benign bone disorder. It radiologically presents as a lytic lesion, often with cortical expansion or disruption, mimics primary bone tumors and metastatic lesions. Histopathological study gives the definitive diagnosis. Xanthoma of bilateral tibia in a normolipidemic patient is rare and not yet reported in literature. Here with we present one such rare case, with review of literature. 展开更多
关键词 xanthoma Normolipidic TIBIA LYTIC LESION
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Pleomorphic cutaneous xanthomas disclosing homozygous familial hypercholesterolemia
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作者 Antonio Mastrolorenzo Antonietta D'Errico +3 位作者 Piera Pierotti Margherita Vannucchi Stefano Giannini Fiammetta Fossi 《World Journal of Dermatology》 2017年第4期59-65,共7页
Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially i... Homoxygous Familial Hypercholesterolemia is characterized by a presence of several types of cutaneous xanthomas with an abnormal lipid profile. Some of these could be pathognomonic. Although these could be initially interpreted as isolated and localized benign disorders and offered surgical treatment, it has become increasingly clear that they could be a part of a systemic pathology. Here we describe a case of this rare disorder in a 19 years old non-obese young man who presented multiple, intertriginous, tuberous and tendinous xanthomas and had an associated abnormal lipid profile with elevated lowdensity lipoprotein cholesterol levels. A detailed history with clinical assessment in the differential diagnosis and laboratory investigations led to a precise diagnosis. 展开更多
关键词 Intertriginous xanthomaS Homoxygous FAMILIAL HYPERCHOLESTEROLEMIA FAMILIAL HYPERCHOLESTEROLEMIA DYSLIPIDEMIA xanthomaS
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An unexpected urinary bladder xanthoma:Case report
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作者 Martina Mandarano Guido Bellezza +3 位作者 Giovanni Cochetti Giulio Metro Ettore Mearini Rachele Del Sordo 《临床与病理杂志》 CAS 2021年第10期2227-2230,共4页
In spite of the fact that xanthomas of the skin,tendons and mucosae are relatively common conditions,urinary bladder xanthoma is a rare benign lesion,only occasionally reported in literature.It usually appears as an e... In spite of the fact that xanthomas of the skin,tendons and mucosae are relatively common conditions,urinary bladder xanthoma is a rare benign lesion,only occasionally reported in literature.It usually appears as an exophytic mass into the bladder cavity,which often worries the clinicians,because it is considered as a neoplasm that need both an excision and follow-up.We herein describe the 32nd case,accidentally identified in a 63-year-old man with a right urinary bladder mass on follow-up abdominal ultrasound scan for a previous open pyeloplasty.He also referred mild obstructive lower urinary tract symptoms.Consequently,a cystoscopy with biopsies was performed and the subsequent histopathological examination was consistent with the diagnosis of urinary bladder xanthoma.Therefore,no additional therapeutics interventions were needed,and the patient currently presents nor symptoms,recurrences,or other pathologies.Although its rarity,it is important to correctly identify urinary bladder xanthoma,differentiating it from other pathological entities which present similar histopathological characteristics,but which sometimes could be associated with a patients’dismal prognosis.Moreover,an accurate diagnosis of urinary bladder xanthoma can avoid both additional treatments and follow up,but also allows to recognize some potential detrimental pathologies which could be associated with it,such as either an altered lipid metabolism or urothelial neoplasms.Proper and prompt recognition and treatment of these last can notably improve patient’s outcome. 展开更多
关键词 Urinary bladder xanthoma(UBX) rare urinary bladder lesion incidental urological finding case report
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Gastric xanthoma is a predictive marker for metachronous and synchronous gastric cancer 被引量:8
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作者 Narihiro Shibukawa Shohei Ouchi +2 位作者 Shuji Wakamatsu Yuhei Wakahara Akira Kaneko 《World Journal of Gastrointestinal Oncology》 SCIE CAS 2017年第8期327-332,共6页
AIM To investigate predictive markers for metachronous and synchronous gastric cancer(GC), which can develop after endoscopic submucosal dissection(ESD).METHODS A total of 352 patients underwent ESD for early GC at NT... AIM To investigate predictive markers for metachronous and synchronous gastric cancer(GC), which can develop after endoscopic submucosal dissection(ESD).METHODS A total of 352 patients underwent ESD for early GC at NTT West Osaka Hospital between June 2006 and February 2016. Exclusion criteria were as follows: Remnant stomach, unknown Helicobacter pylori status, and endoscopic observation of the whole stomach outside our hospital. We analyzed data from 192 patients comprising 109 patients with solitary GC(Group A) and 83 with metachronous and synchronous GC(Group B). We retrospectively investigated the clinicopathological and endoscopic characteristics, and endoscopic risk score as predictive markers for GC.RESULTS The median age of Group B [72 years(interquartile range 63-78)] was significantly higher than that of Group A [66 years(interquartile range 61-74), respectively, P = 0.0009]. The prevalence of intestinal metaplasia in Group B tended to be higher than that in Group A(57.8% vs 45.0%, P = 0.08). The prevalence of gastric xanthoma(GX) in Group B was significantly higher than that in Group A(54.2% vs 32.1%, P = 0.003). The atrophy score in Group B was significantly higher than that in Group A(P = 0.005). Multivariate analysis revealed that higher age and the presence of GX were independently related to metachronous and synchronous GC [OR = 1.04(1.01-1.08), P = 0.02; and OR = 2.11(1.14-3.99), P = 0.02, respectively].CONCLUSION The presence of GX is a useful predictive marker for metachronous and synchronous GC. 展开更多
关键词 胃的癌症 Metachronous 同步的瘤 黄瘤 BIOMARKER
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Verruciform xanthoma of the penis:report of a case 被引量:2
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作者 夏同礼 李贵忠 +1 位作者 那彦群 郭应禄 《Chinese Medical Journal》 SCIE CAS CSCD 2004年第1期150-152,共3页
关键词 xanthoma PENIS HISTOLOGY
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谷固醇血症患儿临床诊疗及基因检测分析
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作者 司晨琛 吴维 +1 位作者 邵敏华 杨挺 《中国麻风皮肤病杂志》 2024年第3期170-175,共6页
目的:分析谷固醇血症患儿的临床表现、实验室检查、基因检测及血清植物固醇谱结果,以提高对该罕见病的诊疗水平。方法:回顾性分析2021年4月至2023年4月在无锡市儿童医院皮肤科首诊并诊断为谷固醇血症的患儿临床特征,常规生化检验结果。... 目的:分析谷固醇血症患儿的临床表现、实验室检查、基因检测及血清植物固醇谱结果,以提高对该罕见病的诊疗水平。方法:回顾性分析2021年4月至2023年4月在无锡市儿童医院皮肤科首诊并诊断为谷固醇血症的患儿临床特征,常规生化检验结果。行全外显子测序,Sanger测序和植物固醇谱检测分析,随访1年余观察患儿临床症状变化及实验室检查指标变化。结果:3例患儿中2例以首发皮肤黄色瘤就诊。3例患儿共检测出4种基因突变,其中发现1个新突变位点为本文首报。患者1、2的ABCG8外显子发生复合杂合突变(ABCG8 NM_022437:c.1724G>A,p.G575D,ABCG8 NM_022437:c.788G>A,p.R263Q)。患者3的ABCG5外显子发生复合杂合突变(ABCG5 NM_022436.2:c.751C>T,p.Gln251*,ABCG5 NM_022436.2:c.-76C>T)。治疗前患儿1、2植物固醇谱检测高于正常水平。3例患儿均低固醇饮食,其中患儿1联合口服依哲麦布。治疗并随访1年余3例患儿的血脂水平均恢复正常;患儿1和2的植物固醇谱水平较治疗前显著降低;2例首发皮肤黄瘤患儿的黄瘤明显变平甚至消失。结论:谷固醇血症患儿常表现为关节附近的皮肤黄瘤,胆固醇升高。诊断需要基因检测及血清植物固醇谱分析证据。低植物固醇饮食、依折麦布对其治疗至关重要。 展开更多
关键词 皮肤黄瘤 谷固醇血症 基因检测 血清植物固醇谱
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Eruptive xanthomas associated with diabetes mellitus
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作者 Ivana Binic Aleksandar Jankovic 《Chinese Medical Journal》 SCIE CAS CSCD 2009年第17期2074-2075,共2页
Diabetes mellitus (DM) is a most common endocrine disorder and it is characterized by high serum glucose levels and by disturbance of lipid metabolism. As a result, the patients can develop long-term systemic compli... Diabetes mellitus (DM) is a most common endocrine disorder and it is characterized by high serum glucose levels and by disturbance of lipid metabolism. As a result, the patients can develop long-term systemic complications. Numerous skin lesions are associated with either type 1 or type 2 diabetes mellitus, and they are specific chronic complications of the disease. Cutaneous xanthomas result from deposition of lipids in the histiocytes in the dermis or subcutaneous tissue. Eruptive xanthomas are a characteristic, but uncommon complication of diabetes mellitus associated with a more sustained hyperlipidemia affecting plasma triglycerides and cholesterol, and hyperglycemia with glycosuria. 展开更多
关键词 eruptive xanthomas diabetes mellitus HYPERTRIGLYCERIDEMIA HYPERCHOLESTEROLEMIA
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胃黄色瘤合并肠上皮化生的临床分析 被引量:1
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作者 池添雨 赵曲川 《首都医科大学学报》 CAS 北大核心 2023年第2期322-327,共6页
目的 回顾性分析胃黄色瘤(gastric xanthoma,GX)合并肠上皮化生患者的临床特征。方法 选取2012年1月至2022年1月在首都医科大学宣武医院消化内镜中心初次行胃镜检查的患者共68 391例,诊断GX 1 346例,GX检出率为1.97%,平均年龄为(55.4... 目的 回顾性分析胃黄色瘤(gastric xanthoma,GX)合并肠上皮化生患者的临床特征。方法 选取2012年1月至2022年1月在首都医科大学宣武医院消化内镜中心初次行胃镜检查的患者共68 391例,诊断GX 1 346例,GX检出率为1.97%,平均年龄为(55.4±12.1)岁。根据有无肠上皮化生(以下简称肠化)将GX分为2组:GX伴肠化组(n=901)和GX不伴肠化组(n=445)。对比两组患者的年龄、性别、幽门螺杆菌(Helicobacter pylori,HP)感染、胃黏膜萎缩程度及是否合并胃癌情况。将GX伴肠化组再根据肠化的程度分为3个亚组:GX伴轻度肠化(n=412)、GX伴中度肠化(n=291)和GX伴重度肠化(n=198),对比分析不同亚组GX伴肠化的临床特征。结果 GX伴肠化与GX不伴肠化组在年龄(P=0.012)、HP感染(P<0.001)和是否合并胃癌(P=0.014)方面差异有统计学意义;GX伴肠化组中年龄≥65岁患者发病率较高、HP感染率高、合并胃癌的检出率较高。单因素及多因素分析显示GX患者中胃癌组和非胃癌组在年龄(P<0.001)、HP感染(P<0.001)、胃黏膜萎缩程度(P<0.001)及GX是否伴有肠化(P=0.014)等方面比较差异有统计学意义。3个亚组在年龄(P<0.001)、性别(P=0.004)、胃黏膜萎缩程度(P<0.001)和胃癌(P<0.001)上均差异均有统计学意义。GX伴中度、重度肠化组中,老年人比例较高(P=0.002,P=0.008),GX伴轻度肠化组中各种程度胃黏膜萎缩均为最轻(P<0.001),GX伴重度肠化组合并重度胃黏膜萎缩程度最高(P<0.001)且合并胃癌比例较高(P<0.001)。结论 GX伴肠化的发生与胃癌、萎缩性胃炎及其严重程度有关,需要多中心、大样本对照研究进一步论证。 展开更多
关键词 胃黄色瘤 肠上皮化生 萎缩性胃炎 胃肿瘤
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伴高胆固醇血症的乳突黄色瘤病1例报告及文献复习
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作者 秦海萍 李淑华 +3 位作者 黄清丽 姜保禄 韩月臣 徐金霞 《中华耳科学杂志》 CSCD 北大核心 2023年第6期929-931,共3页
1病例资料患者男,17岁,因左耳听力下降伴耳闷3年入院。患者3年前无明显诱因下出现左耳听力下降,耳闷感,偶有阵发性、搏动性耳鸣,无耳流液,无耳痛,无发热,无头晕头痛。耳闷逐渐加重来诊。发现高血脂5年,未用药治疗。查体:双侧角膜边缘可... 1病例资料患者男,17岁,因左耳听力下降伴耳闷3年入院。患者3年前无明显诱因下出现左耳听力下降,耳闷感,偶有阵发性、搏动性耳鸣,无耳流液,无耳痛,无发热,无头晕头痛。耳闷逐渐加重来诊。发现高血脂5年,未用药治疗。查体:双侧角膜边缘可见灰白色环(见图1A),双侧手指缝皮肤皱褶处. 展开更多
关键词 乳突黄瘤 高胆固醇血症
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AGPAT2基因突变致先天性全身性脂肪营养不良伴发疹性黄瘤1例
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作者 罗云云 张沥元 +3 位作者 王心怡 刘赫 杜函泽 潘慧 《基础医学与临床》 2023年第12期1852-1856,共5页
目的分析1例AGPAT2基因突变所致先天性全身性脂肪营养不良(CGL)1型伴发疹性黄瘤患者的临床特点及基因型,为临床和基因诊断该病提供依据。方法收集患者的病史、体格检查、实验室检查等临床资料,采集患者外周静脉血用于全外显子组测序分析... 目的分析1例AGPAT2基因突变所致先天性全身性脂肪营养不良(CGL)1型伴发疹性黄瘤患者的临床特点及基因型,为临床和基因诊断该病提供依据。方法收集患者的病史、体格检查、实验室检查等临床资料,采集患者外周静脉血用于全外显子组测序分析和Sanger测序验证,根据病情变化给患者提供治疗。结果患者临床表现为全身皮下脂肪减少,脂肪肝,脾大,双肾增大,血糖、血脂高,严重的胰岛素抵抗,四肢出现散在黄色皮疹,病理显示黄色瘤。全外显子测序结果显示患者AGPAT2基因存在c.202C>T:p.R68*和c.646A>T:p.K216*的杂合无义突变,前者为致病突变位点。后续治疗以改善生活方式、低脂饮食、规律运动为主;积极降脂治疗后皮疹有消退。结论该病例除典型脂肪营养不良表现外,伴发疹性黄瘤,目前国内文献数据库尚未有并发发疹性黄瘤的CGL1病例报道,基因检测结果显示有AGPAT2基因c.202C>T杂合无义突变。此位点尚无文献报道,其功能验证尚待进一步研究。 展开更多
关键词 先天性全身性脂肪营养不良(CGL) AGPAT2基因 全外显子测序 发疹性黄瘤
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阴茎疣状黄瘤合并睑黄瘤一例
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作者 钟娇娇 苏晓红 《中国麻风皮肤病杂志》 2023年第4期291-292,共2页
患者,男,63岁。阴茎、双侧上眼睑斑块20年。结合临床表现及组织病理学检查,诊断为疣状黄瘤合并睑黄瘤。本文首次报道了两者合并的病例,其发病是否有关联仍有待探讨。
关键词 疣状黄瘤 睑黄瘤 阴茎
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口腔疣状黄瘤伴口腔扁平苔藓1例
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作者 贾婷婷 张达 +2 位作者 戚向敏 王彩娇 颜世果 《华西口腔医学杂志》 CAS CSCD 北大核心 2023年第1期104-109,共6页
疣状黄瘤是一种罕见的良性黏膜皮肤病变,而口腔扁平苔藓则是口腔门诊中较为常见的一种慢性炎症性疾病。国外已有文献报道,疣状黄瘤与口腔扁平苔藓可以存在伴发现象。由于疣状黄瘤的低发病率,两病共存的情况较为罕见,目前,对于两种疾病... 疣状黄瘤是一种罕见的良性黏膜皮肤病变,而口腔扁平苔藓则是口腔门诊中较为常见的一种慢性炎症性疾病。国外已有文献报道,疣状黄瘤与口腔扁平苔藓可以存在伴发现象。由于疣状黄瘤的低发病率,两病共存的情况较为罕见,目前,对于两种疾病伴发的内在机制尚无定论。本文报道了1例口腔疣状黄瘤合并口腔扁平苔藓的临床病例,并回顾相关文献,探讨两种疾病伴发的临床分类、病理分型及可能的发病机制。 展开更多
关键词 疣状黄瘤 口腔扁平苔藓 病理分型 发病机制
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外阴部、阴囊疣状黄瘤临床病理特点及文献复习 被引量:8
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作者 项晶晶 徐如君 +2 位作者 吴能定 周虹 陈珏 《临床与实验病理学杂志》 CAS CSCD 北大核心 2007年第2期163-166,共4页
目的探讨外阴部、阴囊疣状黄瘤(verruciform xanthoma,VX)的临床病理学特征、诊断、鉴别诊断及发病机制。方法对1例阴囊VX、2例外阴VX进行光镜、免疫组化、特殊染色、HPV原位杂交观察并结合文献分析。结果VX表皮疣状增生,棘层增厚,钉突... 目的探讨外阴部、阴囊疣状黄瘤(verruciform xanthoma,VX)的临床病理学特征、诊断、鉴别诊断及发病机制。方法对1例阴囊VX、2例外阴VX进行光镜、免疫组化、特殊染色、HPV原位杂交观察并结合文献分析。结果VX表皮疣状增生,棘层增厚,钉突延长位于真皮同一水平;表面过度角化伴角化不全,内有中性粒细胞浸润;真皮乳头层内上皮钉突间见黄色瘤样细胞(泡沫细胞)浸润。免疫组化标记黄色瘤样细胞CD68、α1-AT、Mac387阳性,CK(AE1/AE3)弱阳性,S-100、Ki-67、HPV阴性。PAS阳性。原位杂交HPV6/11呈阴性。结论外阴部、阴囊VX与发生于口腔黏膜的VX临床病理学特征相似,黄色瘤样细胞来源于单核/巨噬细胞。 展开更多
关键词 阴囊肿瘤 外阴肿瘤 疣状黄瘤 人乳头状瘤病毒
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手术治疗睑黄瘤的方法与效果 被引量:11
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作者 鲁开化 彭湃 +1 位作者 高政慧 晏培松 《中国美容医学》 CAS 2002年第1期21-23,共3页
目的 :总结睑黄瘤的治疗方法 ,观察其效果。方法 :对近三年来 4 5例睑黄瘤手术方法进行回顾性总结 ,并结合文献进行讨论。结果 :中老年人上睑较松弛 ,较小面积的病灶可以与重睑术同时施行效果最好 ,若病灶面积较大可采用纵行、斜形、横... 目的 :总结睑黄瘤的治疗方法 ,观察其效果。方法 :对近三年来 4 5例睑黄瘤手术方法进行回顾性总结 ,并结合文献进行讨论。结果 :中老年人上睑较松弛 ,较小面积的病灶可以与重睑术同时施行效果最好 ,若病灶面积较大可采用纵行、斜形、横形切除 ,局部上睑皮瓣旋转或滑行修复 ,部分病例采用切除与电烧灼相结合的方法治疗。结论 :手术治疗是可取的 ,可达到治疗与美容双重效果。 展开更多
关键词 睑黄瘤 眼睑 上睑 外科手术 术式 疗效
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