家族性高胆固醇血症性黄瘤病1例

报告１例家族性高胆固醇血症性黄瘤病。患者有结节性黄瘤及角膜环。血浆胆固醇和人工密度脂蛋白升高，甘油三酯正常。其两个堂姊妹亦有皮肤黄瘤，尾骨处结节组织病理显示大量的黄瘤细胞和纤维增生。     

家族性高胆固醇血症性黄瘤病1例

患者男 ,14岁。出生 2～ 3个月时臀部出现扁平、结节状黄色斑块 ,后四肢等部位相继出现黄色斑块、结节 ,无自觉症状。血浆胆固醇和低密度脂蛋白升高 ,甘油三酯正常。患者的爷爷、两个姑妈、一个伯父有睑黄疣。     

家族性高胆固醇血症性黄瘤病1例

患者女，20岁。肘，膝部黄色皮疹12年，发现血脂增高1周，于2003年2月来我院就诊。患者8岁时双侧肘、膝伸侧出现黄色皮疹，如绿豆至花生米大，无痒痛感。11岁起皮疹逐渐增多、增大，且波及尾骶跟踺。1周前在当地医院检查发现血脂升高，其父母血脂也升高。父母非近亲结婚，家族中无类似疾病患者。     

家族性高胆固醇血症黄瘤病1例

患者男,16岁。双肘、双膝、臀部、手足黄色丘疹,无自觉症状15年,于2005年10月27日来我院就诊。患者1岁时,臀部出现黄褐色绿豆至黄豆大的丘疹,随后,双肘、双膝伸侧,手足及指间亦出现类似皮损,并随年龄增长而增多、增大,皮损以双肘、双膝、臀部居多。近年来双足跟腱、双手示指指关节膨大,无自觉症状。因坐位压迫不适曾在当地医院行激光切除臀部结节,但术后结节复发并明显增大。患者自发病以来无胸闷、气促,无心前区不适。体格检查:一般情况好,发育正常,体型偏瘦,系统检查未见异常。皮肤科检查:双肘、膝关节伸侧,双手指背、指间,臀部及足跟上方…     

家族性高胆固醇血症黄瘤病2例

报告2例家族性胆固醇血症黄瘤病。1例表现为皮肤黄瘤,另1例以心脏瓣膜和血管受累为主要症状。2例患者及其父母均有血脂异常。     

家族性高胆固醇血症黄瘤病1例

1　病例资料　患儿男 ,3岁。双肘部、膝部出现黄色结节 5个月。 5月前无明显诱因双肘部及膝部出现黄色结节 ,并渐增多、增大 ,无自觉症状。平素体健 ,生活、饮食无特殊。体检 :系统检查未见异常。皮肤科情况 :双肘关节、膝关节伸侧见米粒至黄豆大小黄色结节 ,散在或簇集 ,呈半球形 ,表面光滑 (图 1、2 )。图 1　双肘部皮损图 2　双膝部皮损实验室检查 :血甘油三酯正常 ,总胆固醇 2 1.50mmol/L ,低密度脂蛋白 (LDL) 18.57mmol/L ,β 脂蛋白 4.3 g/L。心脏多普勒超声正常 ,肝、胆、脾B超正常。父母非近亲结婚 ,3代家系中未见类似病例。患儿…     

原发性家族性高胆固醇血症性黄瘤病1例

1　临床资料1.1　一般资料　患者女 ,8岁。躯干、四肢出现黄色结节、斑块 7年。患者自出生 5个月 ,即在尾骨处出现黄色丘疹 ,逐渐发展成结节 ,无痛痒。并逐渐在双眼角膜出现黄色环状带 ,无眼部不适。随年龄增长 ,在双侧臀部、手指关节伸侧、肘后、膝关节伸侧及跟腱处出现黄色丘疹、结节。皮疹逐渐增多、变大 ,尤以近 1年发展较快。自发病以来 ,无胸闷憋气 ,无心前区不适。一般情况好 ,发育正常 ,体型偏瘦。全身系统检查除脾触及肋下 1ｃｍ外 ,无其它发现。1.2　皮肤科情况　在尾骨处可见核桃大小结节 ,质稍硬。双侧臀部等前述各处见类似黄色…     

IIb型家族性高胆固醇血症性黄瘤病一例

患儿,女,2岁.双侧臀横纹皮肤黄色丘疹半个月.父母及患儿血脂均升高.患儿皮损组织病理检查:真皮层见大量泡沫状细胞聚集.综上诊断为IIb型家族性高胆固醇血症性黄瘤病.给予口服烟酸及降血脂治疗.目前仍在随访中.     

家族性高胆固醇血症黄瘤病一例

患者男,11岁.因双踝关节伸侧黄色斑块9年,臀部、双膝关节伸侧、双肘关节伸侧、双手关节伸侧黄色斑块6年,于2008年1月来我院就诊.患儿2岁时无明显诱因双踝关节近足背处同时出现一约6 cm长线状斑块.之后斑块逐渐扩大,融合成片状黄色斑块,约5岁左右患儿臀部逐渐出现片状黄色斑块,双膝关节伸侧、双肘关节伸侧也逐渐出现大片状黄色斑块,界限清楚.     

家族性高胆固醇血症性黄瘤病LDL-R基因的突变

目的　研究3个家族性高胆固醇血症黄瘤病家系低密度脂蛋白受体基因突变方式，初步探讨基因型与临床表型的关系。方法　对3例先证者及25个家系成员进行血脂测定、临床检查后，采用聚合酶链反应-变性高效液相色谱，结合扩增产物直接序列分析检测低密度脂蛋白受体基因，结果与GenBank比对，分析突变的病理意义。结果　3例先证者出生时即有黄瘤，之后多处出现黄瘤，并有角膜环，可确诊为家族性高胆固醇血症黄瘤病。先证者1低密度脂蛋白受体基因发现D601N错义突变；先证者2多次出现早发冠心病症状，低密度脂蛋白受体基因发现C122Y错义突变。先证者3低密度脂蛋白受体基因未发现突变位点。28例家系成员共确诊4例杂合子患者。结论　低密度脂蛋白受体基因两个外显子的突变可能是导致家族性高胆固醇血症黄瘤病的原因。     

家族性高胆固醇血症伴弥漫性扁平黄瘤1例并文献复习

报告1例发生于青年男性的家族性高胆固醇血症伴弥漫性扁平黄瘤。16岁男性患者,全身泛发橙黄色斑块、结节10年。专科情况:右眼睑、颈部、双手背、双侧肘、膝关节伸侧皮肤大小不一的橙黄色斑块。皮损组织病理检查:真皮浅层血管周围少量淋巴细胞及组织细胞浸润,真皮浅中层大量泡沫细胞浸润,可见多核巨细胞。血脂检查:总胆固醇(TC)16.49mmol/L;低密度脂蛋白(LDL)12.46mmol/L。患者父母亦存在血脂异常升高情况。诊断为家族性高胆固醇血症伴弥漫性扁平黄瘤。给予降脂药物口服治疗,右上眼睑斑块因影响容貌,予以手术切除。     

A case of diffuse plane normolipemic xanthomatosis associated with pancytopenia and monoclonal gammopathy

We report a case of diffuse plane normolipemic xanthomatosis (DPNX) which showed poorly demarcated, uncommon, yellow macules symmetrically distributed on the nape, axillae and inguinal folds accompanied by severe, persistent itching. Histopathological and ultrastructural studies of skin biopsy specimens revealed the existence of some foamy cells and the deposition of neutral fat in the upper papillary dermis. Laboratory investigations and bone marrow aspirate smears showed that our patient had myelodysplastic syndrome (MDS) associated with pancytopenia and monoclonal gammopathy of undetermined significance. Because our patient had neither a malignant hematological disorder nor a severe systemic disease, monoclonal gammopathy might explain the pathogenesis of DPNX in the present case.     

Cerebrotendinous xanthomatosis

A case report on a 23-year-old female patient with cerebrotendinous xanthomatosis (CTX) is presented. From 8 years of age, the patient clinically showed multiple xanthoma masses on both knees, both heels, and the nasal bridge, juvenile cataracts, multiple abnormal neurologic dysfunctions, and dementia. The level of cholestanol in urine, serum, and xanthoma mass tissues was increased, as determined by capillary gas chromatography.     

青春期幼年黄色肉芽肿1例

报告了例青春期发病的幼年黄色肉芽肿。患者系一13岁女孩,病史1年,表现为颈部、腋下、髋部皮疹,无自觉不适,系统检查未发现异常,病理表现典型。     

手指部结节性黄瘤病一例

患者,男,41岁。双手指先后出现单个淡黄色丘疹、斑块半年,组织病理见泡沫细胞团块状浸润,免疫组化示泡沫样组织细胞CD68(+)、S100(-),查血血脂升高。诊断结节性黄瘤病。经规范降脂治疗,8个月随访未复发。     

Ultrastructural aspects of normolipidemic xanthomatosis

Summary Electron microscopic aspects in ten cases of normolipidemic cutaneous xanthomatosis have been investigated. Two additional types IV and V hyperlipoproteinaemic xanthomatosis have also been included.Ultrastructural findings in all cases were similar. Abundant histiocytic cells with numerous intracytoplasmic lipid vacuoles, lysosomes, and myelin-figures, were the striking features. Moreover, in older lesions microfilaments and lipid vacuoles were found in some fibroblastic cells, as well as long space collagen around them. In some specimens we observed: giant multinucleated histiocytic cells, crystalline cleft-like spaces in histiocytes and some mastocytes with lipidic crystals in the extracellular space, as well as lipid vacuoles in Schwann cells, endothelial cells and pericytes. Rod-shaped tubulated bodies were found in some endothelial cells, with multiple basal vascular laminae. In xantelasma palpebrarum and in disseminate plane xanthoma the histiocytary foamy cells adopted a perivascular arrangement, as in hyperlipoproteinemic xanthomatosis.We concluded that ultrastructural aspects of different xanthomatosis are fairly similar as a consequence of the large amount of intracytoplasmic lipids accumulated in xanthomatous cells. In xanthelasma palpebrarum and in disseminated plane xanthoma this cell phase is reached by similar pathways to those for hyperlipoproteinemic xanthomatosis, whilst in xanthoma disseminatum and juvenile xanthogranuloma the pathways seem to be different.A classification of normolipidemic xanthomatosis is also provided.