精液超敏反应(SFH)是指患者暴露于精液后局部或全身出现的临床症状,主要见于女性对男性精液的超敏反应,也有男性对自体精液发生超敏反应的报道.关于精液超敏反应的发病率及流行病学情况目前尚不清楚.女性对男性精液的超敏反应绝大部分由典型的Ⅰ型超敏反应所介导,可出现局部瘙痒和组织肿胀、全身荨麻疹、血管神经性水肿、哮喘、致命的严重变态反应等.引起女性精液超敏反应的主要变应原是前列腺特异抗原(PSA),初次接触精液即出现症状的患者可能与其之前接触犬有关系,典型病史及精液变应原检测有助于诊断.使用避孕套有良好的预防效果,服用抗组织胺药物及脱敏疗法是有效的治疗方法.男性对于自体精液的的超敏反应症状包括射精后出现严重的肌肉疼痛、极度虚弱、情绪障碍、流感样表现等.关于男性精液超敏反应的发病机制目前争论较多,尚无公认的观点.与射精相关的典型症状可以帮助诊断,而治疗方法尚在探索之中.SFH的防治仍需更多的研究,以便使更多的医生和患者了解此类疾病并寻找更加有效的诊疗方法.

Atopic dermatitis is a chronically recurrent disorder involving disturbed skin barrier functions with inflammatory hypersensitivity. It was often accompanied with other atopic manifestations, elevated serum immunoglobulin E [[1]Bieber T. Atopic dermatitis.New Engl. J. Med. 2008; 358: 1483-1494Crossref PubMed Scopus (1556) Google Scholar]. The prevalence was about 10–20% in children and 1–3% in adults [[2]Niebuhr M. Werfel T. Innate immunity, allergy and atopic dermatitis.Curr. Opin. Allergy Clin. Immunol. 2010; 10: 463-468Crossref PubMed Scopus (53) Google Scholar]. The etiology has not been fully elucidated which combined with genetic and environmental factors. Previous genetic studies had identified amount of susceptibility genes/loci that associated with AD [[3]Tamari M. Hirota T. Genome-wide association studies of atopic dermatitis.J. Dermatol. 2014; 41: 213-220Crossref PubMed Scopus (64) Google Scholar]. However, these findings did not fully explain the risk of AD, suggesting additional genetic factors remain need to be discovered. Recent meta-analysis had established several susceptibility loci for allergic sensitization [[4]Bonnelykke K. Matheson M.C. Pers T.H. Granell R. Strachan D.P. Alves A.C. et al.Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.Nat. Genet. 2013; 45: 902-906Crossref PubMed Scopus (190) Google Scholar]. Due to the similar features between allergic sensitization and AD, they may share common genetic components in the etiology of these two diseases. In order to identify the overlapping susceptibility loci and enhance understanding their relationship, we performed the association analysis of allergic sensitization related loci with AD in Chinese population. A total of 2205 cases (1359 men and 846 women, mean age of 4.10 ± 1.41) and 2208 controls (1162 men and 1046 women, mean age of 25.01 ± 15.23) were enrolled. The diagnosis of AD according to standard criteria [[5]Brenninkmeijer E.E. Schram M.E. Leeflang M.M. Bos J.D. Spuls P.I. Diagnostic criteria for atopic dermatitis: a systematic review.Br. J. Dermatol. 2008; 158: 754-765Crossref PubMed Scopus (170) Google Scholar], demographic and clinical information, such as accompanying symptoms, serum IgE level, age of onset, SCORAD and family history were collected. The study was approved by the Ethical Committee and was conducted according to Declaration of Helsinki principles. We selected 8 SNPs (Table 1) in non-HLA region which reached the genome-wide significance threshold of P ≤ 5 × 10−8 [[4]Bonnelykke K. Matheson M.C. Pers T.H. Granell R. Strachan D.P. Alves A.C. et al.Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.Nat. Genet. 2013; 45: 902-906Crossref PubMed Scopus (190) Google Scholar], and genotyped by Sequenom Mass Array system. P-values, ORs and 95% CIs were estimated using PLINK 1.07 software. The level of associated significance was assigned at P < 0.006 (0.05/8) after Bonferroni correction. The genetic statistical power for SNPs was estimated using CaTS-Power Calculator.Table 1The results of 8 SNPs replicated in Han Chinese AD cases and controls.SNPChrAllelesNearest geneMAFP valueOR (95% CI)Statistical powerControlsCasers100563405q22.1G/TSLC25A460.1440.1663.00E-031.188 (1.058-1.335)89%rs215521911q13.5G/TC11orf300.440.4094.00E-030.884 (0.812-0.962)79%rs174545844q27G/AIL2/ADAD10.120.1311.08E-011.110 (0.978-1.260)27%rs98658183q28G/ALPP0.2970.3111.56E-011.068 (0.975-1.170)17%rs44108718q24.21T/CMYC/PVT10.3430.3562.29E-011.055 (0.967-1.152)11%rs105951312q13.3G/ASTAT60.0740.074.67E-010.941 (0.800-1.108)3%rs176164344p14T/CTLR1/6/100.3530.3596.14E-011.023 (0.937-1.116)2%rs37711752q12.1A/TIL1RL1/IL18R10.0860.0879.61E-010.996 (0.859-1.156)1% Open table in a new tab We only found rs10056340 (P= 0.003, OR = 1.19) and rs2155219 (P= 0.004, OR = 0.88) significantly associated with AD (Table 1). For rs10056340, risk allele G was the minor allele in Han population, which was higher in AD than controls (16.6% vs. 14.4%). Compared to the additive model (P= 0.006, OR = 1.12), the dominant model provided best fit for rs10056340 associated with AD in genetic model analysis (P= 0.002, OR = 1.24) (Table A.1). OR of the G allele for rs2155219 was 0.88 (95% CI: 0.81–0.96), which suggested a protective effect relative to the T allele with regards to susceptibility to AD. Genetic model analysis showed rs2155219 was suited to the additive model (P= 0.004) compared to the recessive and dominant model (Table A.1) in AD. When TT genotype was used as reference, the combined genotype GG + GT were associated with a higher risk of AD (Table A.1). The other 6 SNPs did not reached the statistical significance, which might result from low statistical power (1 ∼ 27%) (Table 1). We also performed a stratified analysis to determine which subtype of AD was associated with these two SNPs. For rs10056340, there was no significant results for each of the subtype of AD in case-only analysis, except for the genotype test showed a marginally association with age onset (P = 0.057) (Table A.2). The risk allele of rs10056340 SNP was significantly associated with early age onset of disease, high SCORAD and with xeroderma syndrome (Table A.2). However, as for the rs2155219, there was a potential difference between the high and low IgE level in the case only analysis (P = 0.035) (Table 2). Besides, SNP rs2155219 was significantly associated with high and low level of IgE phenotypes in sub-phenotype-control analyses.Table 2Associations between rs2155219 and AD in subphenotype control- and case-only analyses.GenotypePgenotype valueAllelePsubgroup vs controlsCombined genotypesPcombined valueOR (95% CI)TTGTGGTGTTGG+GTAge at onset≤1 years655(34.6)933(49.2)307(16.2)4.22E-012243(59.2)1547(40.8)5.00E-03655(34.6)1240(65.4)6.70E-010.95(0.73-1.23)>1 years104(35.9)132(45.5)54(18.6)340(58.6)240(41.4)2.50E-01104(35.9)186(64.1)AD with diseasesYes323(36.0)426(47.4)149(16.6)5.98E-011072(59.7)724(40.3)8.00E-03323(36.0)575(64.0)3.70E-011.09(0.98-1.30)No423(34.1)615(49.6)203(16.4)1461(58.9)1021(41.1)2.50E-02423(34.1)818(65.9)IgE levelHigh115(40.1)137(47.7)35(12.2)3.50E-02367(63.9)207(36.1)1.00E-04115(40.1)172(59.9)4.00E-021.31(1.01-1.68)Low635(33.9)915(48.8)324(17.3)2185(58.3)1563(41.7)3.00E-02635(33.9)1239(66.1)AD with xerodermaYes550(34.3)780(48.7)273(17.0)7.20E-011880(58.2)1348(41.8)2.60E-02550(34.3)1053(65.7)5.70E-010.94(0.77-1.16)No189(35.7)258(48.7)83(15.7)636(60.0)424(40.0)1.00E-02189(35.7)341(64.3)SCORAD<25149(32.8)224(49.3)81(17.8)2.70E-01522(57.5)386(42.5)5.80E-01149(32.8)305(67.2)3.00E-010.89(0.71-1.11)≥25581(35.4)794(48.4)264(16.1)1956(59.7)1322(40.3)1.60E-03581(35.4)1058(64.6)Familial historyPositive87(32.8)128(48.3)50(18.9)4.67E-01302(57.0)228(43.0)6.40E-0187(32.8)178(67.2)6.20E-010.93(0.71-1.23)Negative672(34.4)973(49.7)311(15.9)2317(59.2)1595(40.8)2.40E-03672(34.4)1284(65.6)AD with Keratosis pilarisYes111(38.7)133(46.3)43(15.0)2.95E-01355(61.8)219(38.2)7.30E-03111(38.7)176(61.3)1.30E-011.22(0.94-1.58)No620(34.1)890(48.9)309(17.0)2130(58.5)1508(41.5)2.60E-02620(34.1)1199(65.9)AD with ichthyosisYes97(30.7)164(51.9)55(17.4)2.57E-01358(56.6)274(43.4)7.50E-0197(30.7)219(69.3)1.00E-010.81(0.62-1.04)No635(35.5)859(48.0)297(16.6)2129(59.4)1453(40.6)2.60E-03635(35.5)1156(64.5)AD with Palm diseaseYes171(38.4)204(45.8)70(15.7)1.84E-01546(61.3)344(38.7)3.30E-03171(38.4)274(61.6)6.60E-021.22(0.99-1.52)No561(33.8)819(49.3)282(17.0)1941(58.4)1383(41.6)4.30E-02561(33.8)1101(66.2) Open table in a new tab The main effort is to reveal shared susceptibility loci between these two diseases in Chinese population, an alternative approach is to take susceptibility loci of closely related physiological mechanism phenotype to replicate in AD. Through this method, we confirmed that rs2155219 at 11q13.5 and rs10056340 at 5q22.1 were the overlapping susceptibility loci in AD and allergic sensitization. Both of these two SNPs were not contained in our GWAS data of AD. Although the 11q13.5 locus has been identified in allergic sensitization and atopic disease [6Esparza-Gordillo J. Weidinger S. Folster-Holst R. Bauerfeind A. Ruschendorf F. Patone G. et al.A common variant on chromosome 11q13 is associated with atopic dermatitis.Nat. Genet. 2009; 41: 596-601Crossref PubMed Scopus (257) Google Scholar, 7Ramasamy A. Curjuric I. Coin L.J. Kumar A. McArdle W.L. Imboden M. et al.A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.J. Allergy Clin. Immunol. 2011; 128: 996-1005Abstract Full Text Full Text PDF PubMed Scopus (172) Google Scholar], it was first confirmed in Chinese population. In previous study [[8]Sun L.D. Xiao F.L. Li Y. Zhou W.M. Tang H.Y. Tang X.F. et al.Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.Nat. Genet. 2011; 43: 690-694Crossref PubMed Scopus (172) Google Scholar], we identified SNP rs7936562 at 11q13.5 (Pcombined = 2.98 × 10−4, OR = 0.91) only with suggestive evidence. The SNP rs2155219 (P = 0.004 after correction) showed moderate correlated with rs7936562 (D′ = 0.86, r2 = 0.58), which further support the role of 11q13.5 in AD. In 5q22.1 region, although SNP rs10056340 was only weakly correlated with the 4 SNPs in Chinese population (D′ = 0.69, r2 = 0.30 for rs7701890; D′ = 0.70, r2 = 0.28 for rs10067777; D′ = 0.73, r2 = 0.34 for rs13360927; D′ = 0.73, r2 = 0.34 for rs13361382 based HapMap data in CHB), we could not be sure whether this SNP represented independent risk variant associated with AD in current findings. Bioinformatics analysis of rs10056340 by HaploReg v3 showed that this SNP was located within a strong enhancer in epidermal keratinocytes. Continue in-depth studies are warranted to investigate whether there are multiple independent risk variants within 5q22.1 region. For rs2155219, located at 35 kb 3′ of C11orf30 gene which regulated chromatin states in endothelial cells, B-lymphocyte, lung fibroblasts and encoded the EMSY protein, bind the epithelium-derived cancer [[9]Hughes-Davies L. Huntsman D. Ruas M. Fuks F. Bye J. Chin S.F. et al.EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.Cell. 2003; 115: 523-535Abstract Full Text Full Text PDF PubMed Scopus (365) Google Scholar]. The potential involvement of C11orf30 in multiple inflammatory and malignant epithelial diseases strongly suggests its role in epithelial immunity, growth or differentiation. SNP rs10056340, located at 89 kb of SLC25A46 gene at 5q22.1, regulated chromatin states in epithelial cells and epidermal keratinocytes, and encoded mitochondrial carrier proteins [[10]Palmieri F. The mitochondrial transporter family (SLC25): physiological and pathological implications.Pflugers Arch. 2004; 447: 689-709Crossref PubMed Scopus (625) Google Scholar]. Genotype–phenotype analysis help to clarify whether these 2 loci were associated with specific disease sub-phenotypes. Our findings only indicated that the level of IgE might be related to rs2155219 at 11q13.5, and its biological implications might be involved in generating different AD phenotypes. In conclusion, the 11q13.5 and 5q22.1 have pleiotropic effects of importance in the development of allergic related diseases, which shared between these two disease in Han Chinese population. Further fine mapping and gene functional studies are warranted to identify and characterize the causal gene(s) within these loci. The authors declare no conflict of interests. We thank the individuals and their families who participated in this project. This study was funded by the key Program of National Natural Science Foundation of China (31171224, 81172838), Youth Project (81222022) of National Natural Science Foundation of China and Natural Science Foundation of Anhui Province (1508085JGD05). URLs. CaTS-Power Calculator, . HaploReg v3, . The following are Supplementary data to this article: Download .docx (.04 MB) Help with docx files

•Three SNPs (rs7536201, rs4649038, rs11249215) in or around RUNX3 gene were genotyped in Han Chinese population.•Malar rash, discoid rash and Neurological disorder were shown association with the T allele of rs4649038.•RUNX3 might be a common susceptibility gene shared by SLE and psoriasis as well as ankylosing spondylitis.•RUNX3 is associated with different phenotypes of SLE and might contribute to the complexity of SLE clinical features.

患者女,34岁.右大腿红色皮疹,破溃反复发作1年,加重2个月入院.患者于1年前无明显诱因右大腿伸侧出现一黄豆大红皮疹,无痛痒,渐增至鸽蛋大、破溃、疼痛.自行按疖肿治疗渐痊愈.近5个月右大腿内侧再次出现2-3个类似皮疹,按疖肿治疗无效,来我院求治.皮损处组织病理检查示感染性肉芽肿,结合临床诊断为孢子丝菌病.口服碘化钾10 ml,每日3次,外用特比萘芬软膏治疗.

1 临床资料 患者女,47岁.面部红斑丘疹10年余,反复破溃.10年前无明显诱因右上唇出现米粒大丘疹,未予重视,继之周围出现类似皮损,部分融合,出现破溃,上覆脓液,脓液干燥后结黄褐色痂.

尖锐湿疣(CA)是由人乳头瘤病毒(HPV )引起.近年来的研究表明,CA的发生、发展和转归与患者机体免疫功能尤其是细胞免疫功能关系密切1.细胞免疫中细胞因子起到重要作用.

目的:检测Th2类细胞因子在天疱疮皮损中的表达.方法: 选用单克隆抗体CD4,CD8,CD25,CD54和CD124等,对40例天疱疮患者的皮损及皮损周围皮肤标本用S-P法进行免疫组化研究,同时以20例正常人皮肤组织为对照.结果: CD4+和CD8+的T细胞见于全部标本真皮浸润的单一核细胞内,且以CD4+的T细胞为主(P<0.01),在表皮CD8+的T细胞在寻常型天疱疮和红斑型天疱疮比较有显著性差异(P<0.01),27例病人显示CD25染色阳性,与皮损周围相比CD54在皮损处表达增多(P<0.05).某些CD124阳性细胞见于表皮及真皮.对照组中CD4+和CD8+T细胞稀少,CD4/CD8比值为1.4,在皮损及皮损周围的皮肤中CD25的表达无显著性差异(P>0.05),而角质形成细胞不表达CD25.CD54的表达见于血管内皮细胞和真皮血管周围的单一核细胞,与皮损周围相比,皮损处CD54+增加(P<0.05).结论:细胞免疫在天疱疮的发病中有重要作用.

Hailey–Hailey disease (HHD) is an autosomal dominant skin disorder characterized by recurrent eruption of vesicles and bullae at the sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene encoding the human secretory pathway calcium ATPase 1 (hSPCA1) have been identified as the causative mutations in HHD. In this study, we used direct sequencing and restriction endonuclease digestion to analyze mutations of the ATP2C1 gene in a Chinese three-generation pedigree. A heterozygous T-to-C transition at nucleotide 1004 in exon 12 of ATP2C1 gene was detected. After summarizing the reported cases with ATP2C1 mutation, we concluded that the T1004C transition resulted in a novel missense mutation of leucine condon (CTG) to proline (CCG) at amino acid residue 335(L335P) in hSPCA1. Here, a genetic diagnosis was made for the proband’s daughter before the clinical presentation. The study realized the molecular diagnosis in the HHD pedigree. Our findings should be useful for genetic counseling and prenatal diagnosis for the affected family and in demonstrating the critical role of the ATP2C1 gene in the pathogenesis of HHD further.

<正>双胞胎女性患儿,2个月,出生后4周左右,两婴儿面部、躯干、双手足相继出现红斑,逐渐加重,伴有发热,体温37.3～38.2℃。于2006年12月1日来我院就诊。体检:两患儿均可见头面、口周红斑结痂,躯干、会阴、双手足伸侧及掌跖散

Objective To study the effects of quercetin on melanocytes of guinea pigs epidermis.In order to provide experimental evidence and security for treating vitiligo.Methods The skin of the back of guinea pigs was treated with quercetin and irradiated with infrared-ray.Then the biopsy specimens were taken from the treated and controded back skin.Sections were prepared for special staining.The number melanoctyes and melania content index were measured.Results The number of melanocytes and melanin granule in the epidermal basal layer of the guinea pigs significantly increased in the treated skin than that of control group.Conclusion The result of study showed that quercetin promotes the proliferation of melanocytes and synthesis of melania in the skin of guinea pigs.

患者男．61岁．因全身浅表淋巴结肿大半年余／支皮肤潮红，鳞屑伴瘙痒20余天，于2006年10月24日来我院就诊。2006年2月，颈部3～4个淋巴结肿大，后来波及多处浅表淋巴结．9月存某医院诊断为：①淋巴结结核？②结节病？回当地抗结核治疗，疗效小佳．近日病情加重来诊，以红皮病（原因待查）入院既往健康。体检：全身浅表淋巴结肿大，杏仁至鹅卵大，质韧，活动尚可．无压痛，各系统检查未见异常皮肤科检查：

<正>患者女,41岁。因面部、躯干及四肢淡褐色斑20余年,额部角化性增生物3年,于2005年10月来我院就诊。患者20余年前无明显诱因双手背出现散在黄豆大淡褐色斑丘疹,无自觉症状,当时未予重视。其后面部、躯干、四肢亦出现类似皮损,尤以手背处为多,呈暗红色,部分皮损融合。此后面部部分皮损逐渐增大,呈黑褐色,突出皮面。3年前,右眉弓处两个结节逐渐隆起

患者女,40岁。面部色素斑9年,其上可见浅表性淡白色斑点,日晒或受热时加重,无明显自觉症状。结合组织病理诊断为:Civatte皮肤异色病。给予防光剂治疗。

目的探讨129例天疱疮的发病情况及临床特点,以期改善其治疗和预后情况。方法对全部病例进行分析和讨论。结果129例中男76例,女53例,男女之比为1.4∶1。年龄5~83岁,平均47.5岁,以41~50岁为最多,占35.7%。寻常型占101例(78.3%)。口腔或外阴黏膜损害的有79例(61.2%),尼氏征阳性者101例(78.3%)。死亡率为3.1%。组织病理检查和免疫学检查对该病的确诊很重要。糖皮质激素和免疫抑制剂仍为目前最主要的治疗药物。结论强的松的首次剂量重症患者用80~100 mg/d,中度患者用50~60 mg/d,轻症患者用30~40 mg/d。必要时,应加用免疫抑制剂等其他药物治疗。

患者女,26岁.10余年前颈外侧皮肤出现淡黄色小丘疹,皮疹渐向周边蔓延,累及腋下及腹股沟部.眼底检查为双眼视神经乳头周围有形行色素纹,后极部见血管纹样改变,黄斑部色素沉着.组织病理:真皮中下部弹性纤维明显增多而紧密,可见轻度嗜碱性染色及部分钙盐沉积.诊断为弹性纤维性假黄瘤.

患者女,22岁,因躯干皮肤发生红斑、脓疱4日来诊,该患者于4天前颈部、躯干皮肤发生红斑,到当地医院就诊,以"过敏性皮炎"给予复方甘草甜素20毫升、维生素C 5.0克,每日一次静点,并口服盐酸西替利嗪10毫克/日,外用冰黄肤乐进行治疗而病情未见好转,在原有红斑基础上全身出现密集的脓疱,今经我科门诊以"角层下脓疱病"介绍入院.体格检查:一般状况尚可,T:36.5℃,R:20次/分,P:84次/分,BP:110/80mmHg,系统检查未见异常.