毛发上皮瘤1家系报告

先证者,男,49岁。两侧鼻唇沟出现米粒大小的丘疹17年。家族四代17人中有4人发病,家族发病率约23.53%。皮损组织病理显示:真皮浅中层可见圆形或不规则形分布的嗜碱性瘤细胞团,边缘呈栅栏状,中央见毛干样结构。根据病史、临床表现、组织病理及家族史诊断为家族性毛发上皮瘤。     

家族性多发性毛发上皮瘤1例

患者男,29岁。头皮皮色丘疹、结节4年。皮损组织病理示:表皮轻度萎缩,真皮内见由基底样细胞组成的瘤团,瘤团呈束状或筛孔状,有角质囊肿,周围细胞呈栅栏状排列,瘤团由增生明显的纤维组织互相分隔。家族中有类似疾病史。诊断为家族性多发性毛发上皮瘤。     

一家族性毛发上皮瘤家系CYLD1基因突变的研究

目的:收集山东一多发性家族性毛发上皮瘤家系,通过直接测序法检测该家系圆柱瘤病肿瘤抑制基因(cylindromatosis tumor-suppressor gene,CYLD1)第16、18号外显子是否存在突变。方法:提取家系成员外周血基因组DNA,利用PCR特异性扩增、直接测序方法对CYLD1基因的第16、18号外显子进行检测。结果:本家系成员的CYLD1基因第16、18号外显子未发现突变。结论:未发现本家族性毛发上皮瘤家系CYLD1基因第16、18号外显子存在突变,提示家族性毛发上皮瘤具有遗传异质性。     

一例家族性高脂蛋白血症伴黄瘤及耳聋家系调查

黄瘤是一种脂质代谢障碍性疾病,家族性高脂蛋白血症黄瘤为一种遗传性疾病.我们见到一例患者家族中同时有先天性耳聋,现报道如下.     

单侧痣样黑棘皮病1例

<正>患者女,18岁。因右背部斑疹4年于2009年11月就诊。患者4年前无明显原因发现右背出现黑褐色斑丘疹,逐渐增多,无自觉症状,呈带状分布。曾于本市一家医院就诊,诊断为表皮痣,未予治疗。患者既往身体健康,其他部位无类似病史。患者家族中无类似病史。体格检查:系统检查无明显异常。皮肤科检查:右背部可见带状分布的多个褐色扁平斑块及扁平丘疹,大小不一(图1)。皮损组织病理检查:表皮角化过度,棘层肥厚,乳头瘤样增生,表皮突延长,基底层黑     

家族性高胆固醇血症伴结节性黄瘤

患者女,31岁,全身关节伸侧斑块20年,随年龄增大而逐渐增大.皮肤科检查:患者双侧肘、膝、踝等关节伸侧皮肤对称分布大小不一的橙黄色斑块,关节粗大.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.实验室检查:总胆固醇13.93 mmol/L;低密度脂蛋白9.05 mmol/L.双源CT示:多数冠状动脉不同程度狭窄.X线检查:左足跖趾关节局限性骨皮质缺损.患者父母亦存在血脂异常升高及冠状动脉病变.家族中大伯、二伯及叔叔、胞兄血脂均有不同程度异常,冠状动脉均有不同程度狭窄和斑块形成.其亲属中未见黄瘤.诊断为家族性高胆固醇血症伴结节性黄瘤病.     

5-氟脲嘧啶治疗睑黄瘤疗效观察

扁平黄瘤常见睑周又称睑黄瘤,是原发性家族性黄色瘤的一种,与遗传性脂质代湔紊乱有关 。我院近期用5-氟脲嘧啶治疗50例睑黄瘤的患者取得较好的疗效,现报道如下：     

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。     

泛发经典型卡波西肉瘤1例并文献复习

报告1例泛发经典型卡波西肉瘤。患者男,61岁。四肢及阴囊泛发紫红色丘疹、结节及斑块20年。否认使用免疫抑制剂及器官移植史,否认非婚性接触史,家族中无类似疾病患者。皮肤科检查:下腹部和双下肢非凹陷性水肿,以左下肢为重;四肢及阴囊可见密集分布的紫红色丘疹及结节,境界清楚,部分融合成较大的紫红色斑块,部分斑块表面粗糙,可见糜烂、破溃、渗液及结痂,部分区域皮肤增生肥厚。实验室检查:HIV初筛阴性。皮损组织病理检查:表皮角化过度,真皮内大量新生的血管,血管裂隙形成,血管内皮细胞轻度异形,其间有不规则裂隙状管腔,梭形细胞间夹杂红细胞。免疫组化:CD31及CD34均阳性。诊断:卡波西肉瘤。     

多发性家族性毛发上皮瘤致病基因的研究进展

多发性家族性毛发上皮瘤是一种常染色体显性遗传的皮肤附属器肿瘤,临床较少见。通常20岁前发病,女性患病率高于男性。此肿瘤具有遗传异质性,不同人种致病基因可能位于不同染色体上。从多发性家族性毛发上皮瘤致病基因的定位、克隆、突变检测、功能与结构的研究叙述。     

Cell renewal, cell differentiation and programmed cell death (apoptosis) in pilomatrixoma

Summary Pilomatrixoma is a benign tumour of the cutaneous adnexa. Histologically. pilomatrixoma comprises masses of immature basophilic cells, small numbers of polygonal squamoid cells, few transitional cells, and clusters of 'shadow cells'. The mechanism leading to the formation of shadow cells is still unknown. Skin biopsy specimens of pilomatrixoma ( n = 15) were studied histologically, immuno-hislologically, and by applying the in situ end-labelling technique. The basal layer of the basophilic cells included most of the proliferating cells with high expression of bcl-2 and cytokeratin 19. The overlying basophilic cells showed a negligible mitotic activity, a high significant accumulation of p53 protein, and a heterogeneous, but progressive loss of bcl-2 and cytokeratin 19. They developed either into squamoid cells or into transitional cells. The squamoid cells were characterized as differentiated cells resembling mature keratinocytes of stratified mucosa. The transitional cells could be shown to represent apoptotic cells proceeding to shadow cells. The data suggest that apoptosis is the main mechanism leading to the development of the dead shadow cells and is most probably responsible for the banal biological behaviour of pilomatrixoma. Apart from that, pilomatrixoma represents a suitable biological model to study apoptosis in humans.     

CD4~+CD25~+调节性T细胞与Th17细胞在寻常型银屑病中的表达

目的:检测外周血中CD4~+CD25~+调节性T细胞(简称Treg细胞)与Th17细胞在寻常型银屑病(PV)中的表达。方法:34例寻常型银屑病患者,18例正常人作为对照。采用流式细胞术检测外周血中Treg细胞、FOXP3~+Treg细胞及Th17细胞的表达水平。结果:PV患者外周血中Treg细胞比例和FOXP3~+Treg细胞比例分别为(3.68±1.22)%和(0.53±0.19)%,低于正常对照组的(6.63±1.00)%和(0.76±0.14)%(P0.05)。Th17细胞比例为(2.20±0.78)%,高于正常对照组的(0.65±0.22)%(P0.05)。PV患者外周血中Treg细胞的表达与FOXP3~+Treg细胞的表达呈正相关(r=0.563,P0.05),而Treg细胞的表达与Th17细胞的表达呈负相关(r=-0.522,P0.05);Treg细胞和Th17细胞二者与PASI评分无相关性,与病程亦无相关性。结论:Treg细胞表达的减少及Th17细胞应答的增强,可能是导致PV免疫失衡的重要原因。     

中间类型麻风的组织病理学

1962年Ridley等^⑥提出按麻风免疫力差异,将麻风病分为五种类型,即在典型的结核样型(TT)与典型的瘤型(LL)之间,分设“BT”、“BB”、“BL”三个中间类型.     

An immunohistochemical and ultrastructural study of syringocystadenoma papilliferum

BACKGROUND: Syringocystadenoma papilliferum is a benign hamartomatous tumour of the skin. The histogenesis of this tumour is still controversial. There have been few reports regarding immunohistochemical investigations using only a limited range of antibodies and ultrastructural studies on this rare tumour. OBJECTIVES: To elucidate the immunohistochemical and ultrastructural properties of this tumour. METHODS: We investigated the immunohistological patterns of 12 different anticytokeratin (CK) antibodies and several other markers in five cases of this tumour, comparing them with the patterns in adult sweat glands. One of these cases was also evaluated ultrastructurally. RESULTS: The luminal columnar cells of the tumour were mostly positive for CK7 and more than 70% were positive for CK19. These cells showed the heterogeneous expression of CK1/5/10/14, CK14 and CK5/8. These patterns were also observed in the luminal cells in the secretory or the ductal portion of the adult sweat glands. The basal cuboidal cells of the tumour almost constantly expressed CK1/5/10/14, CK5/8, CK14 and CK7 (except for one case), similar to the patterns of basal cells in the transitional portion and myoepithelial cells in the sweat glands. However, the basal tumour cells expressed CK19 and vimentin heterogeneously, and alpha-smooth muscle actin focally (three cases). Ultrastructurally, the constituent epithelial cells were mainly divided into three types: luminal cells, basal cells and clear cells. The luminal tumour cells bore features of the secretory or ductal luminal cells of sweat glands, although they were somewhat immature in appearance. The basal tumour cells were fundamentally basaloid in nature. The clear cells were undifferentiated or primitive in appearance, suggesting stem or progenitor cell properties. Transitional forms between the clear cells and the other two cell types were also identified. CONCLUSIONS: The tumour epithelium was composed of several cell types demonstrating various developmental stages from the primitive clear cells to the basal cells demonstrating a tendency to differentiate toward basal cells in the apocrine transitional portion or myoepithelial lineage, or luminal cells toward the ductal or secretory epithelium. These results support the classical concept that syringocystadenoma papilliferum is a hamartomatous tumour that arises from pluripotent cells.     

人汗腺腺上皮细胞快速分离培养的初步研究

目的 体外分离、培养及鉴定人汗腺腺上皮细胞,观察其生长特性.方法 在解剖显微镜下挑取汗腺,用胶原酶消化法将其消化成单个细胞,接种后观察其生长情况,并用上皮膜抗原、角蛋白K19和肌动蛋白进行免疫组化鉴定.结果 细胞生长良好,约3周左右长满瓶底,呈铺路石样生长.免疫组化示抗上皮膜抗原、角蛋白K19阳性,抗肌动蛋白阴性,证明分离培养的细胞为汗腺腺上皮细胞.结论 建立了一种体外快速分离和培养人汗腺腺上皮细胞的方法.     

Mixed skin cell lymphocyte culture reaction (MSLR) in psoriasis

The Mixed Skin Cell Lymphocyte Culture Reaction (MSLR) was studied as an in vitro approach of lympho-epidermal interactions in psoriasis. The ability of peripheral blood lymphocytes from patients with psoriasis to proliferate in response to stimulation by epidermal cells and the capacity of psoriatic epidermal cells to stimulate T cells were investigated and compared to results with cells from controls. While stimulation of control lymphocytes by autologous epidermal cells was observed, although weaker than the proliferation in response to allogeneic control epidermal cells, no stimulation was observed in autologous MSLR using psoriatic cells. The ability of epidermal cells from psoriatic skin, either uninvolved or involved skin, to induce proliferation of control lymphocytes in allogeneic MSLR did not differ from that of control epidermal cells. In contrast with results obtained with control lymphocytes and epidermal cells in allogeneic MSLR, peripheral blood cells from psoriatic subjects failed to react to stimulation by control allogeneic epidermal cells. These results indicate a normal capacity of psoriatic epidermal cells to stimulate in MSLR and a functional inability of peripheral blood lymphocytes from patients with psoriasis to react in MSLR which is in agreement with previous reports of abnormal T cell functions in the disease.     

Immunobead and Density Gradient Purification of Paget Cells: In vitro Studies of Proliferation

Previous studies using primary monolayer cultures of epithelial cells from the involved epidermis of patients with mammary and extramammary Paget's disease investigated whether Paget cells proliferate as other malignant cells do. Although epithelial monolayers from the involved skin were maintained for approximately 45 days, no permanent cell lines were established. The proportion of carcinoembryonic antigen (CEA)-positive cells did not increase in the long-term cultures. Herein, we report studies of whether there is a real reduction of Paget cell numbers or if this is merely a decrease in the expression of CEA by the cells. Furthermore, we investigated whether Paget cells survive longer when cultured free from any potential inhibitory keratinocytes or other epidermal cells. Skin samples were obtained from one patient with mammary Paget's disease and three with extramammary Paget's disease; epidermal cells were cultured in vitro. An enrichment of Paget cells was carried out from the cultured epidermal cells by combining an anti-epithelial membrane antigen monoclonal antibody, binding to immunobeads, and density gradient centrifugation in Nycodenz. The separated cells were re-cultured in Keratinocyte-SFM serum-free media. The proportion of CEA-positive cells did not increase in the cultures, and the purified cells did not show any increase in survival times compared to the non-purified cultured cells. These results suggest that the decrease of CEA-positive cells noted during culture results from a decline in expression of CEA in the Paget cells. Paget cells in the involved epidermis do not proliferate significantly and thus differ from many other malignant cells.     

ABCG2在人皮肤鳞状细胞癌组织及A431侧群细胞中的表达及意义

【摘要】 目的 探讨干细胞相关因子三磷酸腺苷（ATP）结合转运蛋白G超家族成员2（ATP-binding cassette transporter 2,ABCG2）在人皮肤鳞状细胞癌（鳞癌）组织及A431侧群细胞中的表达。方法 培养人A431细胞,流式细胞仪分选侧群细胞,噻唑蓝（MTT）实验比较侧群、非侧群细胞生长的增殖能力,逆转录PCR检测ABCG2在两者中的表达。免疫组化MaxVision法检测人鳞癌组织中ABCG2表达情况。结果 A431细胞系中存在侧群细胞,约占总细胞数的1.1%。侧群细胞具有较强的生长能力以及克隆形成能力,侧群组和非侧群组24孔板内每孔克隆形成数分别为114.8 ± 4.95和44.5 ± 3.67（t = 27.92,P ＜ 0.01）,且侧群细胞ABCG2 mRNA表达量明显高于非侧群细胞（t = 5.22,P ＜ 0.01）。在人鳞癌组织中存在少量ABCG2阳性细胞,ABCG2蛋白主要表达在细胞胞质和胞膜上。结论 人鳞癌细胞A431中存在具有干细胞特性的侧群细胞,高表达ABCG2。ABCG2可作为鳞癌干细胞的表面标志物之一。     

甲磺酸伊马替尼对人黑素瘤细胞c-KIT表达的影响

目的:探讨甲磺酸伊马替尼对体外培养的人黑素瘤细胞系c-KIT表达及增殖的影响.方法:采用免疫组化和Western 印迹法检测人黑素瘤M14细胞和鼠黑索瘤B16F10细胞中c-KIT的表达,四甲基偶氮唑蓝(MTT)法分析3种浓度(5、10、20μmol/L)甲磺酸伊马替尼对M14细胞和B16F10细胞的生长抑制作用,Western印迹法观察M14细胞c-KIT和p-c-KIT蛋白的表达情况.结果:M14细胞存在c-KIT表达,B16F10细胞未见表达.3种浓度甲磺酸伊马替尼均能抑制M14细胞的增殖,导致其形态改变:10、20μmol/L甲磺酸伊马替尼均能抑制B16F10细胞的增生,5μmol/L甲磺酸伊马替尼对其无影响.不同浓度甲磺酸伊马替尼均能抑制M14细胞p-c-KIT蛋白的表达,但对c-KIT蛋白无影响.结论:甲磺酸伊马替尼能抑制M14细胞的增殖,机制可能与抑制c-KIT的磷酸化有关.