报道7例以额颞部色素沉着为特征的患儿。7例患儿中，男2例，女5例，发病年龄9 ~ 24（12.43 ± 5.32）个月，病程1 ~ 4（2.57 ± 1.27）个月。皮肤科检查：患儿额颞部散在分布数量不等的咖啡色斑点、斑片，形状不规则，表面未见明显鳞屑。皮肤镜检查：可见多发的假网状黄褐色色素斑片，边界不规则，部分皮损可见线状血管。诊断：儿童面部获得性色素沉着斑。均未予特殊处理，随访2年，2例色素沉着斑完全消退，4例不同程度减轻，1例无变化。结合文献及本文病例推测儿童面部获得性色素沉着斑是一种独立的疾病。

Introduction::Morphea is an inflammatory skin disease characterized by skin thickening due to increased collagen deposition in the dermis or subcutaneous tissues. Anti-U1RNP myositis is a newly described entity characterized by myositis, arthritis, interstitial lung disease, and Raynaud phenomenon.Case presentation::A 64-year-old male with 5-year history of proximal muscle weakness, polyarthritis, Raynaud phenomenon, and dyspnea on multiple immunosuppressives presented with localized infiltrated, tight, and hyperpigmented plaques over the posterior thighs and mid-to-lower back developing over the last 2 years and limiting his movement. Autoimmune workup revealed a positive ANA, anti-U1RNP antibody, anti-Jo1 antibody, and anti-Ro52 antibody. Further workup showed restrictive lung disease, kidney disease, and arthritis. Patient was diagnosed with anti-U1RNP myositis. Skin biopsy of the back lesion showed deep morphea.Discussion::Association of deep morphea with anti-U1RNP myositis is not described prior in the literature. Treatment of morphea is challenging since the patient is already on immunosuppressive medications. The patient failed methotrexate prior and is currently on Mycophenolate mofetil and Deflazacort which are reported as potential treatment for morphea. Therefore, physical therapy plus topical Tacrolimus were suggested as an initial measure to preserve the range of motion of his posterior thighs and back. This is a case of progressive deep morphea developing in a patient with a unique autoimmune profile on immunosuppressive drugs.Conclusion::Anti-U1RNP myositis is a challenging diagnosis and should be always thought of in patients with positive anti-U1RNP, myositis, interstitial lung disease, arthritis, kidney disease, and Raynaud phenomenon. Moreover, deep morphea treatment in immunosuppressed patients is challenging and different measures should be considered.

目的:探讨1例 ADAR1基因变异所致的遗传性对称性色素沉着症(DSH)患儿的临床及遗传学特征。 方法:选取2020年6月因"手背不规则色素斑疹"就诊于郑州大学第一附属医院皮肤科的1例DSH患儿作为研究对象，收集家系成员的临床资料。对患儿进行全外显子组测序(WES)，并用Sanger测序进行家系验证。进一步采用SWISS-MODEL预测野生型及变异型蛋白的三级结构。结果:患儿为13岁男性，手背存在对称性色素沉着和色素脱失斑，临床诊断为DSH。WES及Sanger测序结果显示患儿及其父亲 ADAR1基因第10外显子均存在c.2858dup(p.T954Dfs*20)杂合变异。根据美国医学遗传学与基因组学学会(ACMG)相关指南判定为致病性变异(PVS1＋PM2_Supporting＋PM1＋PP3)。 结论:ADAR1基因c.2858dup(p.T954Dfs*20)变异可能是该DSH患儿的遗传学病因。

Objective::Pityriasis versicolor (PV) is usually a clinical diagnosis. In uncertain cases, PV is confirmed by microscopic examination with 10% potassium hydroxide (KOH). However, the KOH test is not 100% sensitive in diagnosing PV. Dermoscopy of PV is still an unexplored area with very little data reported. This study was planned to study the various dermoscopic features and their utility in the diagnosis of PV.Methods::This cross-sectional observational study was carried out over a 1-year period (September 2020– September 2021) among 57 patients with KOH-confirmed PV. All patients underwent dermoscopy using a handheld dermoscope (DermLite DL4; DermLite LLC). The chi-square test or Fisher’s exact test was used to analyze the data.Results::Of the 57 patients, 43 (75.44%) had the hypopigmented type, followed by the hyperpigmented type ( n = 12, 21.05%) and the perifollicular type ( n = 2, 3.51%). Nonuniform pigmentation was the most common dermoscopic finding observed in both patients with hypopigmented PV ( n = 42, 97.67%) and hyperpigmented PV ( n = 12, 100%) ( P = 0.001). Scaling was the second most commonly observed finding; patchy scaling ( n = 25, 58.13%) and perifollicular scaling ( n = 13, 30.23%) were commonly seen in hypopigmented PV, while hyperpigmented PV showed more diffuse scaling ( n = 6, 50.00%) ( P = 0.04) followed by patchy scaling ( n = 5, 41.66%). Dermoscopy showed unique "double-edged scales" in all lesions with furrow scaling ( n = 11, 19.30%) after eliciting a positive evoked scale sign. Other interesting features seen in hypopigmented PV were hypopigmentation around the hair follicle ( n = 24, 55.48%) ( P = 0.001) and perilesional hyperpigmentation (the halo sign) ( n = 15, 34.88%) ( P = 0.04). Conclusion::We observed several dermoscopic findings in PV that can serve as useful clues for differentiating PV from other similar disorders.

目的:探究敲减角质形成细胞KRT5基因对共培养黑素细胞黑素含量的影响，以解释屈侧网状色素沉着症（DDD）的色素增加性皮损形成的机制。方法:通过成簇的规律间隔的短回文重复序列-相关蛋白9（CRISPR-Cas9）技术获得KRT5基因杂合突变的HaCaT细胞，将转染非靶向单向导RNA：Cas9蛋白复合物的HaCaT细胞设为对照组，分别与人原代黑素细胞HEMn体外共培养。免疫荧光观察共培养细胞中细胞角蛋白及黑素小体表达；差异胰酶消化获得不同共培养组中黑素细胞，检测细胞内黑素含量。免疫组化检测1例KRT5突变DDD患者皮损和正常对照皮肤中黑素细胞特异性前黑素小体蛋白17（Pmel17）的表达改变。结果:Sanger测序显示，实验组HaCaT细胞KRT5基因第1外显子起始密码子发生杂合突变（c.1delA），对照组HaCaT细胞KRT5基因未发生突变。Western印迹显示，实验组HaCaT细胞KRT5蛋白表达水平（0.60 ± 0.05）显著低于对照组（1.00 ± 0.00， t = 32.38， P = 0.001）。HEMn细胞与实验组HaCaT细胞共培养体系中Pmel17标记的黑素小体较与对照组共培养体系增多，且细胞内黑素含量增加52.5%，差异具有统计学意义（ t = -3.48， P = 0.025）。KRT5突变DDD患者皮损组织中Pmel17表达量较正常对照皮肤增加。 结论:本研究通过CRISPR-Cas9诱导KRT5基因突变的HaCaT细胞，与黑素细胞在体外建立共培养细胞模型，验证了其对共培养黑素细胞的影响，为进一步研究角质形成细胞与黑素细胞相互作用机制以及皮肤色素异常的发病机制提供了初级研究模型。

Introduction::Lichen planus pigmentosus inversus (LPPI) is a rare a rare variant of lichen planus characterized by hyperpigmented patches with predominating localization in intertriginous areas. Due to its rarity, only a few LPPI cases are reported. We herein describe two rare cases of LPPI.Case presentation::The two patients were all with a brownish macular lesion on the intertriginous area. A diagnosis of LPPI was made based on their clinical manifestations, dermoscopic features, and histopathologic features, which revealed an interface change, lichenoid infiltration, and pigmentary incontinence.Discussion::LPPI is pruritic or asymptomatic, hyperpigmented macules and patches on the flexural folds. The axillae and flanks were the most commonly affected areas, followed by the groin and genitalia. About half of the female patients had inframammary fold lesions. LPPI shows higher female predominance than Lichen planus pigmentosus. There were fewer cases that lasted more than 3 years compared to LPP.Conclusion::LPPI is a rare variant of lichen planus, with a locational characteristic and female predominance. Therefore, in the case of a pigmented disease occurring in the flexural folds, it should be placed in the differential diagnosis.

目的:探讨乳头乳晕湿疹样透明细胞棘皮瘤的临床表现、病理学特点及诊断。方法:分析我国首例乳头乳晕湿疹样透明细胞棘皮瘤的临床表现、组织病理、特殊染色及免疫组化特征，并与国外文献中该类病例进行比较分析。结果:患者女，左侧乳头乳晕反复皮疹伴瘙痒2年余。皮肤科情况：左侧乳头乳晕皮肤肥厚，乳晕散在红斑、色素脱失与色素沉着斑，上覆少许痂屑。皮损组织病理：表皮局灶性痂屑，局部角化不全，皮突融合延长，棘层肥厚，局灶性海绵样水肿，棘细胞层可见透明细胞团块，真皮浅层毛细血管扩张，少量嗜酸性粒细胞和中性粒细胞浸润。过碘酸希夫染色阳性，上皮膜抗原染色阳性。局部外用曲安奈德益康唑乳膏治疗有效，有明显渗出时外敷3%硼酸溶液可使症状缓解。随访6个月，患者曾间断复发2次，应用上述治疗有效。结论:乳头乳晕湿疹样透明细胞棘皮瘤具有独特的临床和病理学特征，是一个新的亚型，病理是其诊断的金标准。

目的:探讨色素失禁症(IP)患儿眼部病变的临床特征。方法:采用系列病例观察研究设计，对2013年1月至2019年12月于西京医院眼科就诊的13例IP患儿的临床资料进行回顾性分析。所有患儿均接受常规眼部检查，3例患儿接受荧光素眼底血管造影，5例6眼根据病情接受视网膜激光光凝术或抗血管内皮生长因子(VEGF)药物玻璃体腔注射。随访6个月～6年。主要总结患儿病史、家族史、全身表现、眼部特征、诊断、治疗以及随访期间眼部及全身病情变化。结果:13例患儿均为女性，就诊年龄为5 d～42个月，平均2.0(1.0，8.5)个月。初诊时主要皮肤损害表现为红斑水疱期4例，疣状皮疹期3例，色素沉着期6例；随访时见萎缩期7例。13例26眼中10例18眼有眼部受累，占总病例数的76.9%(占总眼数的69.2%)；其中8例双眼受累，2例单眼受累，3例眼部未受累。眼部受累者均累及视网膜，典型表现为视网膜周边无血管区13眼，视网膜血管迂曲、扩张10眼，周边视网膜血管分支增多7眼，视网膜血管白线状改变、部分血管闭塞4眼，视网膜新生血管形成3眼，全视网膜脱离2眼，视网膜皱襞伴黄斑板层裂孔1眼。此外，视网膜出血11眼，视网膜色素改变4眼，灰白色条带样病灶3眼，黄斑发育不良2眼，脉络膜萎缩灶1眼，视盘前胶质增生1眼，视网膜黄白色渗出1眼。同时，4例患儿伴有斜视和眼球萎缩等眼部表现。分别有3例4眼和2例2眼行视网膜激光光凝和抗VEGF药物玻璃体腔注射，末次随访时活动病变消退，病情稳定。结论:IP患儿眼部临床表现多样，以特征性的视网膜血管病变为主，早期诊断、及时治疗至关重要。

目的:对2个遗传性对称性色素异常症（DSH）家系进行家系调查并基因检测。方法:收集2家系DSH先证者及其家族成员的临床资料，同时采集先证者及其父母和100名无亲缘关系健康对照的外周血标本，应用二代皮肤靶向测序包检测基因突变，再用Sanger测序验证。结果:例1男，双手背、足背5岁时出现散在粟粒大小色素沉着斑和色素减退斑，母亲有类似表现。患者及母亲ADAR基因5号外显子检测到1个新的c.1970dupT（p.F657fs）杂合移码突变，父亲未检测到该突变。例2男，面颈部、腰背部、臀部、双下肢及双手足背夹杂分布米粒至黄豆大小褐色沉着斑和色素减退斑，父亲有类似表现，患者及父亲ADAR基因7号外显子检测到1个已知c.2433_2434delAG（p.T811fs）杂合移码突变，母亲未检测到该突变。无亲缘关系的100例健康对照均未发现上述突变。结论:本研究在DSH患者中检测到1个新的ADAR突变位点c.1970dupT。

目的 基于孟德尔随机化研究方法探究肠道菌群与色素沉着绒毛结节性滑膜炎之间的因果关系.方法 利用孟德尔随机化分析的3种主要方法,对211个肠道菌群类群与色素沉着绒毛结节性滑膜炎之间进行双向双样本孟德随机化分析,基于GWAS汇总数据以阐明两者间的因果关系.以逆方差加权分析方法(IVW)作为主要结果,其他方法均作为补充分析.最后使用Cochran's Q检验、MR-Egger回归法、MR-PRESSO法以及条件孟德尔随机化分析(cML-MA)验证结果的可靠性.结果 巴恩斯氏菌属(OR=3.12,95%CI:1.15～8.41,P=0.025)和瘤胃球菌科UCG010(OR=4.03,95%CI:1.19～13.68,P=0.025)的丰度升高可能增加色素沉着绒毛结节性滑膜炎的发病风险;毛螺菌科(OR=0.33,95%CI:0.12～0.91,P=0.032)、另枝菌属(OR=0.16,95%CI:0.05～0.53,P=0.003)、经黏液真杆菌属(OR=0.20,95%CI:0.06～0.61,P=0.005)、毛螺菌科FCS020(OR=0.38,95%CI:0.15～0.94,P=0.036)和瘤胃球菌科UCG014(OR=0.36,95%CI:0.14～0.94,P=0.037)的丰度升高与色素沉着绒毛结节性滑膜炎的发病风险降低相关.敏感性分析均支持该研究结果.反向孟德尔随机化分析并未发现两者间存在反向因果关联.结论 巴恩斯氏菌属和瘤胃球菌科UCG010可能是色素沉着绒毛结节性滑膜炎的潜在危险因素,毛螺菌科、另枝菌属、经黏液真杆菌属、毛螺菌科FCS020和瘤胃球菌科UCG014可能是潜在的保护因素,肠道菌群在其发病机制中的重要作用,提供了潜在干预措施的新思路.