以色素脱失斑为首发表现的婴幼儿结节性硬化症12例分析

目的 探讨无神经系统症状的婴幼儿结节性硬化症的临床特点。 方法 分析12例婴幼儿期结节性硬化症患儿的临床表现,同时对其中5例进行反射式共聚焦显微镜检查,2例进行皮肤活检组织病理检查及电镜检查。 结果 12例患儿就诊年龄2 ~ 18个月,中位数8.6个月。在出现神经症状前,多表现为色素脱失斑、侧脑室室管膜下结节/脑室壁结节、心脏横纹肌瘤和肾脏多发囊肿。5例行反射式共聚焦显微镜检查,结果均表现为色素环结构完整,无缺失,折光变暗,边缘不清晰。组织病理检查：基底细胞色素颗粒及黑素细胞局灶减少;电镜检查：基底层黑素细胞胞质中可见正常数量黑素颗粒。 结论 婴幼儿期的结节性硬化在出现神经症状前,主要表现为色素脱失斑,临床上易与白癜风相混淆,反射式共聚焦显微镜检查结果可以作为与色素减退类疾病相鉴别的依据之一。     

皮肤共聚焦激光扫描显微镜在儿童色素减退性疾病诊断中的应用

目的 探讨儿童常见色素减退性疾病皮肤共聚焦激光扫描显微镜(CLSM)图像的基本特征.方法 分别观察1 915例色素减退性疾病(包括白癜风、特发性滴状色素减少症、无色素痣、线状苔藓、白色糠疹及炎症后色素减退)患者的皮损,用CLSM观察皮损处、交界处及白斑周边正常皮肤的各层镜下特征.应用卡方检验和Fisher精确检验进行统计学分析.结果 1级和2级色素减少占总病例数的51.4％(984/1 915)和35.7％(684/1 915),白癜风3级色素减少的比例为77.9％(141/181),明显高于其他疾病(0～ 10.3％);815例角质层轻度角化过度,1 060例棘层灶性水肿,79例基底细胞环出现改变,1 133例真皮浅层可见稀疏炎症细胞或树枝状细胞.6种色素减退性皮肤病CLSM扫描图像色素减少程度及各层CLSM图像变化均有统计学差异(P＜0.05).CLSM特征:特发性滴状色素减少症可见色素环完全缺失;线状苔藓、白色糠疹、炎症后色素减退可见非特异性炎症改变,线状苔藓可见点灶状基底细胞液化变性;无色素痣仅为色素减少及折光变弱,白癜风白斑区色素完全缺失,且皮肤色素环缺乏完整性.结论 白癜风、特发性滴状色素减少症、无色素痣、线状苔藓、白色糠疹及炎症后色素减退皮损CLSM图像有差异,可以作为鉴别诊断的依据之一.     

单纯糠疹的诊疗进展

单纯糠疹是一种发生于儿童的局限性色素减退性疾病,有轻微鳞屑,边界不清.其发病机制尚不清楚,特应性体质、干燥及日光照射是潜在的危险因素.组织病理显示,病变区域表皮基底层黑素含量较皮损周围正常皮肤处明显减少,免疫组化显示,病变区表皮基底层黑素细胞含量与皮损周围正常皮肤差异无统计学意义.治疗中可以使用润肤剂.新近研究显示,钙调磷酸酶抑制剂等抗炎药物可以起到良好的治疗及预防复发的疗效.     

几种色素减退性疾病的研究进展

色素减退性疾病是皮肤科常见的疾病,严重影响美观.白癜风、无色素痣和进行性斑状色素减少症等色素减退性疾病的发病机制、组织病理和治疗不尽相同,但均以色素脱火斑为主要特征,临床鉴别有时较为困难.概述这几种色素减退性疾病的发病机制、临床表现、组织病理及治疗等方面的最近研究进展,以提高对色素减退性疾病的认识,帮助临床诊断与治疗.     

Efficacy and prognosis of chronic myeloid leukemia treated with imatinib mesylate in a Chinese population

There is limited data from developing countries on the current status of imatinib treatment for chronic myeloid leukemia (CML), thus we retrospectively analyzed 116 Chinese CML patients who received imatinib between 2003 and 2008. The response rates for 102 patients in chronic phase were: complete hematologic, 94.1%; complete cytogenetic, 69.6%; and complete molecular response, 54.9%. For 14 patients in the accelerated phase, the respective response rates were 85.7, 35.7 and 28.6%. The 3-year progression-free survival and 5-year overall survival were 73.3 and 74.8%. Although skin hypopigmentation occurs as the most common side effect (77.6%), imatinib is still well tolerated. In addition to the known pretreatment characteristics of spleen size, leukocyte and platelet counts, disease phase and Sokal scores, we found that delayed therapy, variant Philadelphia chromosome translocations and IM-related grade 3/4 leucopenia were associated with an inferior cytogenetic response. Four factors emerged as predictors of disease progression: molecular response, cytogenetic response, disease phase and disease duration prior to imatinib treatment, but only the latter three remained significant after multivariate analysis. The results indicate that the suboptimal outcome in Chinese patients is associated with delayed imatinib therapy, so the importance of the optimal treatment opportunity for CML should be emphasized.     

伴斑点状色素沉着的单纯性大疱性表皮松解症1例国内首报

患儿男,15岁。躯干、四肢反复发生水疱和大疱,伴色素沉着和色素减退15年。皮损组织病理示:棘层下部棘细胞间裂隙和陈旧性表皮内水疱,部分基底细胞液化或空疱变性及基底层色素增加,真皮血管周围多数淋巴和嗜酸粒细胞浸润。直接免疫荧光检查阴性。透射电镜下超微结构示角质形成细胞间水肿,基底细胞内裂隙和空泡形成,并见大量张力微丝排列为均质化团块,部分呈漩涡状;基底细胞及细胞间可见黑素小体。诊断:单纯性大疱性表皮松解症,斑点状色素沉着。经云南省医学信息研究所查证证实该例为国内首例报道。     

Developmental toxicity of auranofin in zebrafish embryos

Auranofin (AF) is used in clinic for the treatment of rheumatoid arthritis, repurposing of AF as an anticancer drug has just finished a phase I/II clinical trial, but the developmental toxicity of AF remains obscure. This study focused on its developmental toxicity by using zebrafish embryos. Zebrafish embryos were exposed to different concentrations (1, 2.5, 5, 10 μm ) of AF from 2 h post‐fertilization (hpf) to 72 hpf. At 72 hpf, two major developmental defects caused by AF were found, namely severe pericardial edema and hypopigmentation, when embryos were exposed to concentrations higher than 2.5 μm . Biochemical detection of oxidative stress enzyme combined with expressions of a series of genes related to oxidative stress, cardiac, metal stress and pigment formation were subsequently tested. The superoxide dismutase activity was decreased while malondialdehyde content was accumulated by AF treatment. The expression of oxidative stress‐related genes (sod1 , gpx1a , gst ), pigment‐related genes (mitfb , trp‐1a ) and one metal stress‐related gene ctr1 were all decreased by AF exposure. The expressions of cardiac‐related genes (amhc , vmhc ) and one metal‐related gene hsp70 were found to be significantly upregulated by AF exposure. These findings indicated the potential developmental toxicity of AF on zebrafish early development. Copyright © 2016 John Wiley & Sons, Ltd.     

注射糖皮质激素致色素减退26例分析

目的 探讨糖皮质激素局封致色素减退的临床特点及共聚焦显微镜（RCM）特征。方法 回顾分析26例糖皮质激素局部封闭致色素减退患者的临床表现,RCM下特征及治疗转归。结果 26例中22例女性,4例男性。临床表现为圆形、卵圆形淡白斑或白斑,边界模糊,15例患者局部皮肤有不同程度萎缩,其中8例患者可见到皮下静脉网。26例患者行RCM检查,发现色素减退区均有不同程度的表皮变薄,皮突变短或消失,基底层色素细胞数量减少直至消失,与白癜风患者的RCM下表现完全不同。结论 糖皮质激素局部封闭致色素减退是一类具有明确诱因、伴发皮肤萎缩的色素减退性疾病,RCM检查可为其提供诊断价值。     

Distribution patterns of torpedo maculopathy: Further evidence of a congenital retinal nerve fiber layer-driven etiology

With fewer than 100 peer-reviewed cases reported in the world to date, the underlying etiology of torpedo maculopathy has remained elusive. In this literature review, we provide new evidence to better support, reject and unify claims regarding cause, diagnosis, and proper clinical management of this disease. We reviewed 44 case reports and case series, which included 77 patients (after exclusions). We additionally introduced 3 new cases from our clinical practice for a total of 80 cases. Ages at presentation ranged from 6 months old to 73 years old (mean: 24.2 years old). The nasal aspects of torpedo maculopathy lesions pointed toward the optic disc and localized to a kite-shaped region of the temporal macula, correlating with the anatomic junction of the superior arcuate, inferior arcuate, and papillomacular bundles of retinal nerve fiber layer distribution. No patterns were observed among the temporal aspects of the lesions. These findings support a congenital etiology of torpedo maculopathy and a possible influence of the retinal nerve fiber layer in the development of mature retinal pigment epithelium.