毛囊闭锁三联征1例及家系调查

先证者,男,47岁。双腋窝、臀部反复红肿溃烂30余年,加重4～5年。查体可见大汗腺丰富和皮肤皱褶部位结节、脓肿、窦道及萎缩性或增生性瘢痕,诊断为毛囊闭锁三联征。家系共四代17人,其中患者4人,男3例,女1例。该家系中患者临床特征典型,符合常染色体显性遗传模式。     

毛囊闭锁三联征1例

患者男,39岁。胸背、肩胛及腘窝聚合性凹陷瘢痕15年,臀部、大腿根部及阴囊反复发作结节、囊肿、脓肿、窦道及瘢痕3年,加重2月。皮损组织病理示:表皮棘层增厚,真皮浅层血管扩张、充血,毛囊周围以淋巴细胞为主的炎性细胞浸润。采用异维A酸、红霉素族抗菌素、激素、雷公藤多甙和活血化瘀中药等联合治疗,取得满意疗效。     

毛囊闭锁三联征1例

患者,男,29岁。面部、腋窝反复丘疹、脓疱、囊肿、脓肿、瘢痕增生16年,累及颈项部、腹股沟、臀部、大腿根部6年,加重3月。皮肤组织病理示:表皮轻度角化过度、角栓形成,棘层增厚,上皮角延长,基底细胞层色素颗粒增生,真皮内胶原纤维增生、致密,真皮血管、毛囊周围少量单一核细胞为主的炎细胞浸润。分泌物细菌、真菌涂片示:G+球菌。分泌物细菌培养为无乳链球菌。药敏结果示对头孢拉定、强力霉素、氨苄霉素等敏感。诊断为完全型毛囊闭锁三联征。     

毛囊闭锁三联征1例

患者,男,29岁。面部、腋窝反复丘疹、脓疱、囊肿、脓肿、瘢痕增生16年,累及颈项部、腹股沟、臀部、大腿根部6年,加重3月。皮肤组织病理示:表皮轻度角化过度、角栓形成,棘层增厚,上皮角延长,基底细胞层色素颗粒增生,真皮内胶原纤维增生、致密,真皮血管、毛囊周围少量单一核细胞为主的炎细胞浸润。分泌物细菌、真菌涂片示:G+球菌。分泌物细菌培养为无乳链球菌。药敏结果示对头孢拉定、强力霉素、氨苄霉素等敏感。诊断为完全型毛囊闭锁三联征。     

毛囊闭锁三联征1例

患者男,27岁。聚合性痤疮及大汗腺分布区的化脓性汗腺炎,反复发作10年。组织病理学符合毛囊闭锁三联征(FOT)改变。给予维A酸类、糖皮质激素和抗感染治疗有效。     

毛囊闭锁三联征1例

患者男,21 岁.头皮、躯干斑块及脓肿5 年入院.患者5 年前无明显诱因胸、背部出现较密集的黄豆至花生米大的丘疹、结节,结节逐渐形成脓肿,破溃后有脓液流出,伴压痛,皮损缓慢愈合,形成大小不一、表面光滑的斑块,上述皮损散在出现于四肢、腋下及臀部.     

毛囊闭锁三联征1例

患者男,33岁。头面部反复粉刺、丘疹、结节、脓肿伴破溃10年,累及颈部、腋窝、臀部6年。红肿皮损组织病理检查示:表皮呈假上皮瘤样增生,真皮内弥漫性浆细胞、较多淋巴细胞、中性粒细胞浸润。诊断:毛囊闭锁三联征;库欣综合征;糖尿病;体癣;甲真菌病;脂肪肝;骨质疏松症;低蛋白血症。予敏感抗生素、维甲酸类、性激素、手术治疗、理疗及对症支持等治疗,疗效较好。     

不全型毛囊闭锁三联征1例

患者男,35岁：因腋窝、腹股沟、臀部多发脓肿、破溃5年余,加重2个月,于2006年4月10日收入长海医院皮肤科。患者5年前无明显诱因左侧腹股沟出现红肿、硬结,伴有低热,逐渐彤成脓肿．在多家医院就诊．均诊断为聚合性瘁疮．给予口服异维A酸胶丸（泰尔丝）和抗感染治疗。近4年来,患者病情反复,在颈部、腋窝、腹股沟、臀部等多处出现脓肿、破溃．并先后在颈部、臀部行脓肿切开引流术。2个月前病情再次加重,破溃处脓液增多,伴发热。既往面部、背部有痤疮病史17年,糖尿病病史3年．[第一段]     

毛囊闭锁三联征1例

<正>1病历资料患者男,35岁。因头面部丘疹和结节15年,臀部及腹股沟多发脓肿3年,加重6个月,于2010年3月2日至中国中医科学院广安门医院皮肤性病科门诊就诊。患者15年前面部出现丘疹、丘脓疱疹及黑头粉刺,可挤出白色分泌物;头面部出现数个结节,其后结节软化,形成脓肿,于当地医院切开引流,留有瘢痕。皮损反复发作,曾于当地医院诊为"痤疮",治疗后无好转(具体不详),结节消退后遗留大小不等的瘢痕。3年前患     

毛囊闭锁三联征

患者男,63岁。头面部、躯干、臀部及会阴部多发结节、囊肿、窦道及瘢痕30余年,会阴部皮损反复流脓血4个月余。皮肤科检查:头部多发结节及瘢痕性秃发,面部、胸背部及臀部多处大小不等的点状凹陷性瘢痕及窦道,会阴部一黄豆大囊肿,表面破溃,呈火山口状,上覆鳞屑及脓性分泌物。皮损组织病理:表皮角化过度,伴角化不全,可见多个毛囊角质栓,有微脓肿及结痂形成,棘层增生肥厚,表皮突增生延长,基底层黑素增多,真皮层纤维组织增生,毛囊扩张明显,囊腔内充满角化物及脓性渗出物,毛囊周围伴大量中性粒细胞、淋巴细胞浸润,可见多核巨细胞,部分扩张的毛囊内含多根毳毛。诊断:毛囊闭锁三联征。治疗:行会阴部肿物切除术及皮瓣覆盖术。     

毛囊闭锁三联征一家系调查及致病基因突变检测

目的 研究一个毛囊闭锁三联征家系的临床特征及其致病基因的突变类型.方法 依据确诊的毛囊闭锁三联征先证者对该家系进行现场调查,并采集外周血标本.运用PCR扩增早老素1(PSEN1)、单过性跨膜蛋白(NCSTN)和早老素增强子2(PSENEN)的所有外显子,经测序与比对后鉴定致病基因突变位点和突变方式.结果 该家系共有3代14人,其中6人患病(男4例,女2例),符合常染色体显性遗传模式.对4例现存患者临床特征比较分析表明,患者临床表型差异显著.对3个基因的DNA测序分析发现,NCSTN基因6号外显子存在c.647A＞ C(p.Q216P)错义突变,且在该家系中基因型与表型呈完全共分离现象.同时检测100名健康对照,未发现该突变.检索美国国家生物技术信息中心(NCBI)网站单核苷酸多态性(SNP)数据库,未发现该突变.结论 该家系存在一个新的错义突变,即NCSTN基因6号外显子c.647A＞C,这可能是该家系患者发病的分子基础.     

先天性厚甲症Ⅱ型一家系角蛋白17基因突变的研究

目的 研究一先天性厚甲症Ⅱ型(PC-Ⅱ)患者家系基因突变,探讨基因突变和临床表现的关系.方法 PCR扩增外周血基因组DNAK17基因第一外显子，PCR产物进行序列分析。结果 家系中3例患者（2例为迟发型厚甲，分别在4岁和15-16岁发生）K17基因第92位密码子由AAT突变为AGT，导致K17角蛋白1A区N92S突变，而该家系中的2例正常人及与该家系无关的50例正常人未发现此突变。结论 该PC-Ⅱ型家系存在K171A区N92S突变，K171A区突变可呈现为迟发型先天性厚甲。角蛋白基因突变位置可能不是PC-Ⅱ厚甲发生年龄的唯一决定因素，可能还存在其它遗传或环境因素决定PC-Ⅱ厚甲发生的年龄。     

Sweet's Syndrome Limited on the Palms and Soles: A Case Report

Sweet''s syndrome was first described as a reactive dermatosis characterized by sudden onset of fever, leukocytosis, and erythematous plaques infiltrated with neutrophils. Therefore, Sweet''s syndrome is also known as acute febrile neutrophilic dermatosis. However, subsequently, it became clear that fever and neutrophilia in Sweet''s syndrome vary depending on the case, and several other characteristics have been described. The lesions in Sweet''s syndrome are typically observed not only in the limbs but also in the face, neck, and upper trunk. A 28-year-old female without a specific medical history presented in a hospital following the complaint of painful erythematous patches and pustules on her palms and soles. She had no previous history of palmoplantar pustulosis and other infections or malignancies. A skin biopsy showed diffuse dermal infiltration of neutrophils. Laboratory tests showed increased neutrophil count and erythrocyte sedimentation rate. After systemic corticosteroid administration was initiated, the lesions gradually disappeared. The patient was subsequently diagnosed with Sweet''s syndrome according to histology, clinical feature, and response to treatment. However, there have been few reports of Sweet''s syndrome confined to the individuals'' palms and soles. According to the literatures, although the dorsum of the hand is frequently affected, the palmoplantar involvement as in our case appears to be rare.     

Lobomycosis: exuberant presentation with malignant transformation

Lobomycosis is a chronic granulomatous infection caused by the yeast Lacazia loboi, typically found in tropical and subtropical geographical areas. Transmission occurs through traumatic inoculation into the skin, especially in exposed areas, of men who work in contact with the soil. Lesions are restricted to the skin and subcutaneous tissue, with a keloid-like appearance in most cases. The occurrence of squamous cell carcinoma on skin lesions with a long evolution is well known; however, there are scarce reports of lobomycosis that developed into squamous cell carcinoma. The authors report a patient from the Brazilian Amazon region, with lobomycosis and carcinomatous degeneration, with an unfavorable outcome, due to late diagnosis.     

皮肤颗粒细胞瘤1例及文献复习

患者女,56岁。发现左耳后质硬结节5月就诊。皮肤组织病理示:真皮层可见排列成巢状或束状的肿瘤组织,瘤细胞为多角形,胞浆丰富,淡粉染,充满嗜酸性颗粒。免疫组化标记CD34,CD68,S-100,Vimentin(+)。诊断:皮肤颗粒细胞瘤。治疗:采取完全手术切除。     

Syndecan-1蛋白在皮肤鳞状细胞癌的表达及意义

目的 检测皮肤鳞状细胞癌（鳞癌）患者血清可溶性多配体蛋白聚糖1（SDC1）水平和SDC1蛋白在组织中的表达及两者的相关性。 方法 免疫组化方法检测93例鳞癌及30例健康对照者表皮SDC1的表达,酶联免疫吸附测定（ELISA）检测81例鳞癌患者和30例健康对照者血清中可溶性SDC1的表达水平。 结果 鳞癌组织中,SDC1表达明显低于健康对照组（Z = 3.85,P < 0.01）。在不同肿瘤厚度和分化程度的鳞癌中,SDC1表达强度随肿瘤厚度的增加和分化程度地降低而有下降趋势（χ2分别为11.66和12.51,均P < 0.01）。鳞癌患者中伴淋巴结转移组SDC1表达强度显著低于无淋巴结转移组（Z = 2.20,P < 0.05）。鳞癌患者血清可溶性SDC1表达水平显著高于健康对照组（Z = 4.12,P < 0.01）,且随着肿瘤厚度的增加和临床分期的变晚血清可溶性SDC1水平逐渐升高。侵袭性鳞癌的SDC1水平高于原位鳞癌的患者（Z = 3.02,P < 0.01）,但不同分化程度的侵袭性鳞癌血清SDC1水平比较,差异无统计学意义（均P > 0.05）。有淋巴结转移的鳞癌患者血清SDC1水平明显高于无淋巴结转移组（Z = 5.30,P < 0.01）。鳞癌患者血清中可溶性SDC1的水平与组织中SDC1表达强度呈负相关（rs = -0.625,P < 0.01）。用受试者工作曲线法判断血清可溶性SDC1水平对诊断有无淋巴结转移的最佳临界点为65.5 μg/L,其敏感度为73.7%,特异度为87.1%,曲线下面积值为0.904（0.840 ~ 0.968）。 结论 鳞癌组织中,SDC1表达减弱和血清中可溶性SDC1水平升高与鳞癌的侵袭性相关,血清SDC1水平升高对鳞癌患者淋巴结转移的诊断具有一定的价值。     

Follicular mycosis fungoides: presentation of a case and review of the literature

Follicular mycosis fungoides is a rare variant of mycosis fungoides (MF). Structural-wise there are several acneiform lesions made up of comedones, cysts and hyperkeratosis. The main histological finding is atypical lymphocytic infiltration around follicular structures, without epidermotropism. The association with follicular mucinosis is widely discussed in the literature. We report a case of follicular (MF) and review the cases published to date.