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。     

IIa型家族性高胆固醇血症性黄瘤病1例

患者男,18岁,眼睑、四肢斑块、结节14年。母亲、弟弟及表姐血脂均升高,其弟弟及表姐合并有睑黄瘤;实验室检查示:血浆总胆固醇、低密度脂蛋白明显升高。组织病理检查示:真皮层见大量泡沫细胞聚集。诊断:IIa型家族性高胆固醇血症性黄瘤病。     

家族性高胆固醇血症性黄瘤病并汗孔角化1例

患者女,23岁,眼睑、臀部及四肢斑块、结节17年。其父母为近亲结婚,血脂均升高,母有睑黄瘤。8年前面部出现环状色素沉着斑,其母及姨母有类似病史。实验室检查示:血浆总胆固醇、低密度脂蛋白明显升高。组织病理检查示:真皮层见大量泡沫细胞聚集。诊断:家族性高胆固醇血症性黄瘤病并汗孔角化。     

发疹性黄瘤2例

报告发疹性黄瘤2例。例1女,45岁。躯干、四肢泛发黄色丘疹1月余。皮损组织病理示:真皮浅中层成团的泡沫细胞及散在的组织细胞、淋巴细胞浸润,血浆总胆固醇及甘油三酯水平显著升高,诊断为"发疹性黄瘤",未口服降脂药,自行用"周林频谱仪"照射,1周后皮疹全部消退,随访两年半皮疹未复发。例2男,32岁。双肘部黄色丘疹3年。皮疹组织病理示:真皮内少量泡沫细胞,其间散在少量慢性炎症细胞浸润,血浆总胆固醇及甘油三酯水平显著升高,诊断为"结节性发疹性黄瘤",口服辛伐他汀片20mg,1次/d,1个月后皮疹逐渐消退。     

正常脂质的黄瘤病

腱黄瘤和结节性黄瘤常合并家族性高胆固醇血症,而正常脂质的黄瘤病仅见于几种罕见的情况,但该文报告的1例并不符合已知的正常脂质黄瘤病的原因。 患者女,20岁。主诉指、腕、肘和踝部周围多发性无痛性肿胀2年。此前局部有瘙痒和大     

弹力纤维性假黄瘤研究进展

弹力纤维性假黄瘤是一种常染色体遗传性疾病，可使钙化和碎裂的弹性纤维在皮肤、视网膜Bruch膜、血管壁聚集。应用基因连锁分析和突变检测技术证明弹力纤维性假黄瘤的发病与ABCC6突变有很大的相关性，伴随其表型、病情进展、遗传模式的不同，临床上所见到的皮肤、眼、心血管损害的程度变化较大，目前仍无有效的治疗方法。     

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。     

内分泌、代谢、营养障碍性皮肤病

家族性高脂蛋白血症伴多发性结节性黄瘤一例,发疹性黄瘤病一例,特殊表现的黄色瘤一例,泛发性幼年黄色肉芽肿1例，伴蕈样肉芽肿的毛囊黏蛋白病一例，     

发疹性黄瘤1例

黄瘤病常伴有血脂质和其它系统的异常，可分为原发性和继发性，发疹性黄瘤是黄瘤病五种基本皮损类型之一种。近期我科曾收治1例，现报告如下：     

POLYMORPHIC TYPE OF XANTHOMATOSIS IN ASSOCIATION WITH IgA MYELOMA

Clinical and immunochemical findings were reported from a 36-year-old woman with multiple xanthomas of various clinical types (plane xanthoma, tubero-tendinous, papulo-eruptive and follicular xanthomas), multiple myeloma (IgA, type L), and hyperlipemia with markedly elevated levels of plasma cholesterol and triglycerides. A bone marrow specimen showed foam cells and atypical plasma cell proliferation. Lipoprotein-IgA complexes were thought to exist in the serum of this patient on gel filtration and micro-ouchterlony test. Cutaneous xanthomas associated with multiple myeloma are plane xanthomas in most of the reported cases. Combination of several different types of xanthomas has been reported in only three cases, all of which were associated with IgA myeloma.     

Planar xanthomas secondary to post‐transplantation cholangiopathy in a 16‐month‐old boy

Planar xanthomas in children represent rare dermatologic findings associated with abnormalities in lipid metabolism. While planar xanthomas in Alagille's syndrome have been well described in the literature, there have been no cases reported of eruptive xanthomas in pediatric liver transplant patients. Herein we report a case of a 16‐month‐old boy status post–liver transplantation who presents with planar xanthomas secondary to cholangiopathy. A brief review of xanthomas and the related literature is also provided.     

Cutaneous xanthomatous tumours as an expression of chronic myelomonocytic leukaemia?

Nonspecific cutaneous xanthomas have been reported in a variety of lymphocytic neoplastic processes, but to date only three cases of xanthomatous lesions associated with monocytic leukaemias have been described. We now report a patient with a chronic myelomonocytic leukaemia (CMML) associated with these lesions. The clinical and immunohistochemical features do not correspond to any entity previously described and suggest that xanthomas are a cutaneous expression of the CMML.     

Xanthoma striatum palmare and biliary tract atresia: An unusual association

Cutaneous xanthomas develop as a result of lipid deposition in the dermis and may be a manifestation of various systemic diseases. The morphology and anatomic location of xanthomas are often a clue to the underlying cause. Xanthoma striatum palmare (XSP) is classically associated with dysbetalipoproteinemia and rarely observed in hepatic disorders. We present a case of a 2-year-old child diagnosed with XSP and biliary tract atresia.     

Familial hypercholesterolaemia with tuberous and tendinous xanthomas: case report and mutation analysis

Xanthomas are important clinical manifestations of disordered lipid metabolism, which are mostly found in patients with familial hypercholesterolaemia (FH), an inherited disorder that is predominantly caused by mutations in the low‐density lipoprotein receptor gene (LDLR). Tuberous and tendinous xanthomas with wide distribution and large size are rare; however, they may indicate the severity of FH, and tend to be found in homozygous FH. In this study, we investigated the clinical and genetic aspects of a young patient with FH presenting with multiple large masses in various locations. The lesions on the elbows and buttocks were locally excised and subsequently confirmed by biopsy to be xanthomas. Genetic analysis further confirmed that the patient was compound heterozygous for two mutations in both alleles of the LDLR gene. This rare case of compound heterozygous FH presenting with multiple large and widely distributed xanthomas provides a better understanding of FH and xanthomas.     

Hyperlipoproteinemia due to congenital bile duct atresia with unusually located tuberous xanthoma

A 17 month old girl with congenital bile duct atresia developed unusually located xanthomas (fig. 2 and 3). The lipids in the xanthomas consisted of cholesterolesters and triglycerides.     

Eruptive Xanthome bei Hypertriglyzeridämie

Eruptive xanthomas are often associated with elevated plasma levels of triglyceride-rich lipoproteins and may be a marker for occult hyperlipidemia, diabetes mellitus or pancreatitis. A 42-year-old woman presented with the acute onset of disseminated eruptive xanthomas secondary to hyperlipidemia associated with diabetes and concomitant acute pancreatitis. She improved after optimized insulin therapy and intensified treatment of hyperlipidemia. Eruptive xanthomas should be diagnosed early and lead to further metabolic evaluations.     

The triad of pruritus,xanthomas, and cholestasis: Two cases and a brief review of the literature

When encountered in children, xanthomas are most commonly associated with a group of disorders known as familial hyperlipidemias. Aside from cosmetic concerns, these xanthomas are typically asymptomatic, but when generalized pruritus is a prominent associated symptom, clinicians should consider a different set of diagnoses that includes cholestasis of the liver. In this article we present two illustrative cases of children with cholestatic disease, pruritus, and xanthomas and discuss other disorders that may include this triad.     

Association of juvenile xanthogranuloma with juvenile myeloid leukemia

Multiple cutaneous xanthomas developed in a patient at the age of 10 months, and juvenile chronic myeloid leukemia (JCML) developed at the age of 30 months. The xanthomas were histopathologically consistent with a diagnosis of juvenile xanthogranuloma (JXG). A review of other cases of JCML with JXG indicates that the cutaneous lesions have many clinical and histopathologic similarities to sporadic JXG but are more often multiple or papular and confluent. In addition to JXG, a few children with JCML also have multiple café-au-lait spots and a family history of neurofibromatosis.     

Sitosterol xanthomatosis

BACKGROUND: Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis. OBJECTIVE: To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease. METHODS: We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate. RESULTS: Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment. CONCLUSION: It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.