红斑、丘疹及鳞屑性皮肤病

20100533山东汉族关节病性银屑病与HLA-A、B等位基因相关性研究/屈丽娜(山东省皮防所皮肤科),张福仁,杨宝琦…∥中华皮肤科杂志.-2009,42(9).-604～606用PCR-寡核苷酸探针杂交分型法对42例山东汉族关节病性银屑患者与90例健康献血者进行HLA-A、B等位基因分型。两组比较,关节病性银屑病患者组B*27等位基因频率、B*57等位基因及B*13/B*27杂合体的出现频率明显高于对照组,A*33等位基因频率明显低于对照组。B*27等位基因频率在关节病性银屑病脊柱受累组为80%,无脊柱受累组为22%(两组比较,P<0.01);外周附着点受累组为63%,无外周附着点受累组为2     

山东汉族梅毒患者与HLA-A、B等位基因的相关性研究

目的 探讨山东汉族梅毒患者与HLA-A、B等位基因的相关性.方法 采用PCR-序列特异性寡核苷酸探针杂交(PCR-SSOP)方法对205例山东汉族梅毒患者与5844例山东汉族正常对照的HLA-A、B等位基因表现频率进行检测.结果 梅毒患者组HLA-A*02,B*15、40等位基因频率高于对照组(P值均＜0.01;Pc值均＜0.05),HLA-A*26等位基因频率低于对照组(P=0.003;Pc=0.039),HLA-B*15、40等位基因频率在显性梅毒组高于对照组(P值均＜0.01;Pc值均＜0.05),HLA-A*02、11、29,B*15、40等位基因频率在隐性梅毒组高于对照组(P值均＜0.01;Pc值均＜0.05),HLA-A*30、33等位基因频率在隐性梅毒组低于对照组(P值、Pc值分别为0.002、0.026;0.001、0.013),HLA-A*30等位基因频率在显性梅毒组高于隐性梅毒组(P=0.001;Pc=0.013).结论 HLA-A*02,B*15、40等位基因可能与山东汉族梅毒相关,HLA-A*30可能与山东汉族显性梅毒相关,HLA-A*02、11、29可能与山东汉族隐性梅毒相关.

Abstract：

Objective To investigate the association of HLA-A and -B alleles with syphilis in Shandong Han population. Methods The allele frequencies of HLA-A and -B were detected in 205 patients with syphilis and 5844 normal human controls by PCR-sequence specific oligonucleotide probe (PCR-SSOP)method. Results The patients with syphilis showed a higher frequency of HLA-A*02, B*15, B*40 alleles(all P＜0.01, Pc＜0.05) and a lower frequency of HLA-A*26 allele (P= 0.003, Pc = 0.039) than the normal human controls did. There was an increased frequency of HLA-B*15 and B*40 alleles in patients with symptomatic syphilis (both P＜0.01, Pc＜0.05), as well as an elevated frequency of HLA-A*02, 11, 29, B*15 and 40 alleles (all P＜0.01, Pc＜0.05) and a decreased frequency of HLA-A*30 and 33 in patients with asymptomatic syphilis(P=0.002, 0.026, Pc=0.001, 0.013 respectively), compared with the normal human controls. The frequency of HLA-A*30 allele was significantly higher in patients with symptomatic syphilis than in those with asymptomatic syphilis (P = 0.001, Pc = 0.013). Conclusions There seems to be an association between HLA-A*02, B* 15 and B*40 alleles and syphilis, between HLA-A*30 allele and symptomic syphilis, and between HLA-A*02, 11 and 29 alleles and asymptom1atic syphilis, in Shandong Han population.     

大疱性类天疱疮与HLA-A、B等位基因的相关性

目的:确定山东汉族大疱性类天疱疮(BP)与HLA-A、B等位基因的相关性。方法:运用聚合酶链反应-序列特异性引物寡核苷酸探针杂交(PCR-SSOP)方法,对山东地区43例汉族BP患者和125例健康对照进行了HLA-A、B等位基因分型。结果:BP患者组HLA-A*24频率高于对照组(P=0.033,Pc0.05);HLA-A*33、B*44在患者组中频率低于正常对照组(P值分别为0.040和0.024,但Pc值均0.05)。结论:大疱性类天疱疮的遗传易感基因可能与HLA-A、B等位基因无相关性。     

兰州地区汉族寻常型、关节病型银屑病与HLA-DQB1*0201相关性研究

目的:分析兰州地区汉族寻常型、关节病型银屑病与HLA-DQB1*0201等位基因的相关性.方法:采用聚合酶链反应-序列特异引物(polymerase chain reaction sequence specific primers, PCR-SSP)法检测41例寻常型银屑病患者、27例关节病型银屑病患者和52名健康对照的等位基因频率.结果:寻常型银屑病患者组HLA-DQB1*0201等位基因频率较正常对照组显著增高;关节病型银屑病患者组HLA-DQB1*0201等位基因频率较正常对照组显著增高.结论:HLA-DQB1*0201等位基因可能是兰州地区汉族寻常型、关节病型银屑病的遗传标志.     

蒙古族寻常性银屑病与HLA-Cw及DRB1位点相关性研究

【摘要】 目的 探讨蒙古族人群寻常性银屑病与HLA-Cw 及DRB1等位基因的相关性,为银屑病病因学研究提供依据。方法 序列特异性引物聚合酶链反应（PCR-SSP）对蒙古族寻常性银屑病患者81例及正常蒙古族100例进行HLA-Cw及DRB1位点的等位基因进行分型。结果 银屑病组HLA- Cw*06,DRB1*07等位基因频率显著高于健康对照组,HLA- Cw*04、DRB1*04等位基因频率显著低于健康对照组（Pc ＜ 0.05或0.01）。在发病年龄 ＜ 40岁银屑病及家族史阴性患者中HLA- Cw*06、DRB1*07等位基因频率显著高于健康对照组,而HLA- Cw*04、DRB1*04显著低于健康对照组（Pc ＜ 0.05）。在发病年龄≥ 40岁的银屑病及家族史阳性患者中只有HLA- Cw*06等位基因频率显著高于健康对照组（Pc ＜ 0.05）。结论 HLA- Cw*06、DRB1*07等位基因可能是内蒙古地区蒙古族人群寻常性银屑病的易感基因。HLA- Cw*04、DRB1*04等位基因可能是内蒙古地区蒙古族人群寻常性银屑病发病的保护因子。HLA- DRB1*07可能是发病年龄 ＜ 40岁的银屑病的易感基因,而HLA- Cw*04、DRB1*04则可能是发病年龄 ＜ 40岁银屑病的保护因子。     

华东地区汉族斑秃与HLA-DRB1*03、*04、*11基因多态性的关联研究

目的 探讨中国华东地区汉族人群HLA-DRB1基因与斑秃发病、临床特点的关系。方法 采用序列特异性引物PCR（PCR-SSP）技术对已确诊为斑秃的158例和正常人对照组172例进行HLA-DRB1基因多态性分析。并比较斑秃患者不同发病年龄、发病次数、病程、家族史及严重程度与HLA-DRB1基因的关联性。结果 斑秃组HLA-DRB1*03、HLA-DRB1*11等位基因频率与对照组差异无统计学意义。斑秃组HLA-DRB1*04（OR = 1.99,Pc = 0.01）等位基因频率明显高于对照组。与正常人对照组比较,斑秃晚发组（发病年龄 > 16岁）（OR = 1.94,Pc = 0.02）、斑秃复发组（发病次数 > 1）和初发组（OR = 2.49、Pc = 0.02,OR = 1.83、Pc = 0.04）、病程 > 1年的患者（OR = 2.94,Pc = 0.01）、无家族史的患者（OR = 1.97,Pc = 0.02）、严重斑秃患者（OR = 3.53,Pc = 0.00）HLA-DRB1*04等位基因频率均显著升高。结论 中国华东地区汉族人群HLA-DRB1*04等位基因与斑秃发病、临床分型显著相关。     

广西地区汉族婴幼儿脉管性疾病与HLA-DRB1等位基因相关性研究

【摘要】 目的 探讨广西地区汉族婴幼儿脉管性疾病与HLA-DRB1等位基因遗传易感性的关系。 方法 广西地区汉族婴幼儿脉管性疾病145例（血管瘤组99例、脉管畸形组46例）,健康对照组105例。采用聚合酶链反应-序列特异性引物（PCR-SSP）方法对3组HLA-DRB1等位基因进行分型,使用SPSS16.0统计软件分析DRB1基因在3个组中的分布。 结果 DRB1*0901、*1401、*16等位基因在血管瘤组、脉管畸形组、对照组的分布差异均有统计学意义（χ2 = 13.05,P < 0.01;χ2 = 12.79,P < 0.01;χ2 = 10.36,P < 0.01）。进一步在各组间进行两两比较,DRB1*0901等位基因频率在血管瘤组与脉管畸形组间（RR = 4.84,P < 0.01）及血管瘤组与对照组组间（RR = 3.21,P < 0.01）差异均有统计学意义。DRB1*16等位基因频率在血管瘤组与对照组组间（RR = 2.25,P < 0.01）及脉管畸形组与对照组间（RR = 2.60,P < 0.01）差异均有统计学意义。血管瘤组中DRB1*1401等位基因频率显著性低于对照组（RR = 0.30,P < 0.01）。 结论 DRB1*0901等位基因可能为广西地区汉族婴幼儿血管瘤的易感基因,而DRB1*1401等位基因可能是其拮抗基因。HLA-DRB1*16等位基因可能为广西地区汉族脉管性疾病的易感基因。     

内蒙古蒙古族和汉族人群白细胞介素12通路相关基因多态性与寻常型银屑病相关性及与HLA-Cw*0602交互作用研究

【摘要】 目的 探讨白细胞介素12（IL-12）通路相关基因多态性与内蒙古蒙古族和汉族寻常型银屑病患者的遗传相关性及与HLA-Cw*0602的交互作用。方法 收集2012年12月至2018年3月于内蒙古医科大学附属医院住院的寻常型银屑病患者1 409例为病例组,其中汉族1 030例,蒙古族379例,健康对照组1 483例,其中汉族965例,蒙古族518例。采集受试者外周静脉血5 ml提取DNA,选择位于IL-12B（rs2082412、rs2288831、rs3212227、rs3213094、rs7709212）、IL-23R（rs11209026、rs2201841、rs7530511）、IL-28RA（rs4649203）基因区域的9个单核苷酸多态性（SNP）,利用二代测序法进行基因多态性检测,利用序列特异性引物PCR对HLA-Cw*0602进行基因分型。利用PLINK1.07软件进行统计分析,χ2检验比较两组等位基因频率,并计算等位基因的相对危险度估计值比值比（OR）,R × C列联表卡方检验进行单倍型分析。结果 IL-12B基因rs2082412、rs2288831、rs3212227、rs3213094、rs7709212等位基因频率在汉族病例组显著低于汉族对照组（P < 0.005）;IL-12B基因rs3213094等位基因频率在蒙古族病例组显著低于蒙古族对照组（P < 0.005）。汉族和蒙古族病例组HLA-Cw*0602阳性率均显著高于相应民族对照组（P < 0.005）。分层分析显示,汉族HLA-Cw*0602阳性病例组IL-12B基因rs2082412、rs2288831、rs3212227、rs3213094、rs7709212等位基因频率显著低于汉族对照组（P < 0.005）,而阴性病例组与汉族对照组各等位基因频率差异无统计学意义（P > 0.05）。蒙古族HLA-Cw*0602阳性或阴性病例组各等位基因频率与相应对照组差异均无统计学意义（P > 0.005）。分析IL-12B基因区域的5个SNP构建单倍型,在汉族、蒙古族病例组和对照组中6个单倍型分析差异均无统计学意义（P > 0.005）。基于HLA-Cw*0602分层的IL-12B基因多态性单倍型分析,蒙古族、汉族7个单倍型无论HLA-Cw*0602阳性和阴性病例组及对照组中的频率差异无统计学意义（P > 0.005）。HLA-Cw*0602阳性和阴性蒙古族病例组和对照组,单倍型GATGT频率在两组间差异均无统计学意义（P > 0.05）。结论 IL-12通路相关基因多态性与内蒙古蒙古族、汉族人群寻常型银屑病具有相关性,且IL-12B与HLA-Cw*0602在寻常型银屑病发病过程中可能存在交互作用。     

兰州地区汉族寻常性、脓疱性银屑病与HLA-DRB1*0701的相关性

目的探讨兰州地区汉族寻常性、脓疱性银屑病与HLA-DRB1*0701等位基因的相关性。方法采用聚合酶链反应-序列特异引物(PCR-SSP)法检测42例寻常性银屑病、28例脓疱性银屑病和50例健康对照者HLA-DRB1*0701等位基因频率,并相互比较。结果寻常性银屑病患者组及脓疱性银屑病患者组HLA-DRB1*0701等位基因频率分别(54.8%,46.4%)与正常对照组(22.0%)比较差异均有显著性(P<0.05)。结论HLA-DRB1*0701等位基因可能是兰州地区汉族寻常性、脓疱性银屑病的遗传标志。     

自体血清皮肤试验阳性慢性荨麻疹与HLA-DRB1基因的相关性研究

目的 探讨广西地区自体血清皮肤试验阳性慢性荨麻疹与HLA-DRB1等位基因遗传易感性的关系。 方法 对144例广西地区慢性荨麻疹患者进行自体血清皮肤试验,按试验结果分为阳性组62例,阴性组82例。采用聚合酶链反应-序列特异性引物方法,对患者组和199例正常人对照组进行HLA-DRB1等位基因的分型,并分析DRB1基因在3个组中的分布。使用SPSS13.0统计软件分析。结果DRB1*01、*1401、*16等位基因频率在阳性组、阴性组和正常人对照组间比较,差异均有统计学意义（χ2 = 10.92,Pc = 0.03;χ2 = 35.34,Pc < 0.01;χ2 = 12.69,Pc = 0.03）。进一步在各组间进行两两比较,仅DRB1*1401等位基因频率在自体血清皮肤试验阳性组与对照组间（RR = 17.09,Pc < 0.01）及自体血清皮肤试验阳性组与阴性组间（RR = 7.20,Pc < 0.01）,差异均有统计学意义。结论 DRB1*1401等位基因可能是广西地区自体血清皮肤试验阳性慢性荨麻疹的易感基因或与其连锁。     

New fillers for the new man

ABSTRACT:  Two new collagen-based lidocaine-containing dermal fillers, ArteSense™/ArteFill™ (Artes Medical, San Diego, CA) and Evolence® (Colbar LifeScience Ltd., Herzliya, Israel), have proved to be of particular interest to men, many of whom seek a long-lasting or permanent correction. ArteFill™ has been available in the United States since 2006, and it is expected that Evolence® will reach the American market in 2008. The properties of the two products will be described, and experience based on the administration of many hundreds of syringes of both products by a Canadian dermatologist will be detailed here, with tips and precautions to optimize patient outcomes.     

Outcomes and adverse effects of ablative vs nonablative lasers for skin resurfacing: A systematic review of 1093 patients

It is generally believed that ablative laser therapies result in prolonged healing and greater adverse events when compared with nonablative lasers for skin resurfacing. To evaluate the efficacy of ablative laser use for skin resurfacing and adverse events as a consequence of treatment in comparison to other modalities, a PRISMA‐compliant systematic review (Systematic Review Registration Number: 204016) of twelve electronic databases was conducted for the terms “ablative laser” and “skin resurfacing” from March 2002 until July 2020. Studies included meta‐analyses, randomized control trials, cohort studies, and case reports to facilitate evaluation of the data. All articles were evaluated for bias. The search strategy produced 34 studies. Of 1093 patients included in the studies of interest, adverse events were reported in a total of 106 patients (9.7%). Higher rates of adverse events were described in nonablative therapies (12.2% ± 2.19%, 31 events) when compared with ablative therapy (8.28% ± 2.46%, 81 events). 147 patients (13.4%) reported no side effects, 68 (6.22%) reported expected, transient self‐resolving events, and five (0.046%) presented with hypertrophic scarring. Excluding transient events, ablative lasers had fewer complications overall when compared with nonablative lasers (2.56% ± 2.19% vs 7.48% ± 3.29%). This systematic review suggests ablative laser use for skin resurfacing is a safe and effective modality to treat a range of pathologies from photodamage and acne scars to hidradenitis suppurativa and posttraumatic scarring from basal cell carcinoma excision. Further studies are needed, but these results suggest that ablative lasers are a superior, safe, and effective modality to treat damaged skin.     

Genetic alterations in RAS‐regulated pathway in acral lentiginous melanoma

Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS‐related pathways are present in 87.5% of acral lentiginous melanomas.     

Self‐resolving superficial primary cutaneous mucormycosis in a 7‐week‐old infant

A 7‐week‐old girl, born at 30 weeks' gestational age, presented to clinic for evaluation of a crop of vesicular lesions that were noted after removal of a bandage that had been in place for 4 days. A punch biopsy of the lesion revealed fungal elements that were later identified as Rhizopus spp. The lesion began to self‐resolve, and no further treatment was needed, with full resolution of the lesion by 1 month after presentation. Clinicians should be aware of the variable presentations of mucormycosis and consider fungal infection in the differential diagnosis when evaluating vulnerable patients with skin eruptions.     

Pathogenic role of IL-17 in psoriasis and psoriatic arthritis

Psoriasis is a chronic inflammatory skin disorder resulting from a complex network of cytokines and chemokines produced by various immune cell types and tissue cells. Emerging evidence suggests a central role of IL-17 and IL-23/T17 axis in the pathogenesis of psoriasis, giving a rationale for using IL-17-blocking agents as therapeutics.Three agents targeting IL-17 signaling are being studied in Phase III clinical trials: secukinumab and ixekizumab (IL-17 neutralizing agents), and brodalumab (IL-17 receptor antagonist). Preliminary results are highly promising for all anti-IL17 agents, creating fair expectations on this class of agents as the new effective therapeutic approach for the treatment of psoriasis.