痣样黑素瘤三例临床及组织病理学分析

【摘要】 目的 探讨痣样黑素瘤的临床和组织病理学特征。方法 回顾性分析2000—2020年西京皮肤医院诊断的3例痣样黑素瘤患者的临床和组织病理资料。结果 3例痣样黑素瘤患者中,女2例,男1例,皮损初始表现为黑斑、丘疹。2例在手术切除后皮疹复发增大成斑块或新发结节样皮损。组织病理学检查：表皮及真皮内上皮样黑素细胞增生,细胞有异型性,部分细胞核深染。免疫组化结果显示,皮损内瘤细胞Melan-A、S100表达阳性;HMB45在真皮瘤细胞内弥漫阳性,局部阴性;Ki67增殖指数升高,细胞周期蛋白D1表达活跃。结论 痣样黑素瘤易误诊为色素痣或脂溢性角化病;对于组织学诊断为色素痣,但临床出现复发或者转移的患者,需高度警惕痣样黑素瘤的可能。     

婴幼儿先天性色素痣126例临床及病理特征分析

【摘要】 目的 总结婴幼儿先天性色素痣的临床及病理特征。方法 回顾性分析2015年1月至2020年1月在西京皮肤医院确诊的126例婴幼儿先天性色素痣患儿的临床及病理资料。计数资料比较采用χ2检验。结果 126例婴幼儿先天性色素痣患儿中,男68例,女58例;86.5%的患儿出生即有皮损;57.9%就诊年龄2 ~ 3岁。皮损发生部位包括头面部（76例,60.3%）、躯干（24例,19.1%）、四肢 （26例,20.6%）。36例（28.6%）为先天性小痣,68例（54.0%）为M1型中型痣,13例（10.3%）为M2型,9例（7.1%）为巨痣。121例（96.0%）皮损单发,5例（4.0%）多发,44例（34.9%）痣伴粗毛,15例（11.9%）伴丘疹/增生性结节,6例（4.8%）有卫星灶。病理亚型包括混合痣120例（95.2%）、皮内痣4例（3.2%）和交界痣2例（1.6%）。38例（30.1%）镜下皮损深度< 1 mm,61例（48.4%）1 ~ 2 mm,25例（19.8%） > 2 mm,45例（35.7%）浸润至皮下脂肪层或更深。126例色素痣皮损中,常见病理特征包括痣组织成熟现象（100%,不包括2例交界痣）,角质层色素颗粒（42.1%）,分布紊乱/不对称（63.5%）,表皮痣细胞散在分布（72.2%）和呈Paget样扩散（53.2%）,真皮可见噬黑素细胞（56.4%）,痣细胞沿毛囊皮脂腺分布（65.1%）等。特殊病理特征包括痣细胞嵌入血管/淋巴管腔内（33.3%）、痣细胞松解（35.7%）、纤维瘤样改变（19.8%）、累及立毛肌（24.6%）、肥大细胞浸润（23.8%）等。不同临床表现的婴幼儿先天性色素痣病理模式：浸润深度 > 2 mm、角质层色素颗粒和角质层柱状色素颗粒在巨痣中的发生率明显高于其他大小皮损（χ2 = 7.93、10.76、5.89,均P < 0.05）;浸润深度 > 2 mm、表皮海绵水肿伴痣细胞散在分布、痣细胞巢沿毛囊皮脂腺分布、纤维瘤样改变、肥大细胞浸润在伴有粗毛皮损中的发生率明显高于不伴粗毛者（χ2 = 28.29、8.11、6.22、7.92、8.19,均P < 0.01）;表皮痣细胞呈Paget样扩散、痣细胞有异型性在伴丘疹/增生性结节的皮损中的发生率高于不伴丘疹增生性结节的皮损（χ2 = 4.92、6.30,均P < 0.05）。结论 婴幼儿先天性色素痣的临床及组织病理具有独特性,细胞常见不典型性,确诊及治疗选择需要密切结合临床与病理特征。     

皮肤上皮样血管瘤性结节一例

皮肤上皮样血管瘤性结节是一种少见的良性皮肤血管增生性疾病，临床表现为单发或多发的红色或紫红色的斑块、结节，好发于躯干及四肢,本文报道一例。患者，女，47岁。背部红色结节3个月伴轻微瘙痒，组织病理示结节位于真皮浅层，周围无包膜,由上皮样血管内皮细胞增生形成，无明显异型性，大量管腔样结构形成，免疫组化示：CD31(+), CD34(+), D2-40(+), Fli-1(+), KP-1(+), Ki-67(20%+),溶菌酶(+)。诊断：皮肤上皮样血管瘤性结节。治疗：行手术切除，随访至今2年未复发。     

先天性平滑肌错构瘤16例临床及组织病理分析

目的：探讨先天性平滑肌错构瘤（CSMH）的临床及组织病理特点。方法：回顾性分析2014年1月—2020年10月于该皮肤医院确诊的16例CSMH患者的临床及组织病理资料。结果：16例患者中女性9例（56.3%）,男性7例（43.7%）,就诊年龄2～28岁,平均（11±12）岁。其中15例患者（93.7%）出生即有皮损,1例（6.3%）于2岁发病。15例患者（93.7%）表现为单发皮损,1例（6.3%）为多发皮损;皮损发生于面部者11例（68.7%）,四肢者3例（18.8%）,躯干者2例（12.5%）;皮损表现为斑片或斑块者14例（87.5%）,表现为群集性丘疹者2例（12.5%）;皮损颜色为褐色者11例（68.7%）,红色者3例（18.8%）,肤色者2例（12.5%）;8例患者（50.0%）表现为多毛。皮肤镜下可见病变区域毛发数量增加。皮损组织病理均表现为真皮内无一定走向的成熟平滑肌束,肿瘤细胞胞质呈明显的嗜酸性,细胞核呈雪茄样,两端钝圆。免疫组化示肿瘤细胞表达平滑肌肌动蛋白（SMA）及结蛋白（desmin）。结论：CSMH多出生即有,单发多见,可发生于面部、四肢和躯干,主要表现为褐色斑...     

混合型汗孔角化症1例

报告1例混合型汗孔角化症。患者男,55岁,躯干、双下肢结节伴痒5年余。体检:面部见多发的绿豆至花生米大小环状斑片;躯干、四肢散在黄豆至蚕豆大小结节,高起皮面,质较硬;会阴、阴囊见数个大小不等、质地较硬的结节或疣状增生性斑块。皮损组织病理检查:表皮角化过度,见角化不全柱,其下有角化不良细胞,颗粒层、棘层增厚,呈银屑病样增生。根据临床及皮肤组织病理,诊断为混合型汗孔角化症。     

混合型汗孔角化症1例

报告1例混合型汗孔角化症。患者男,55岁,躯干、双下肢结节伴痒5年余。体检：面部见多发的绿豆至花生米大小环状斑片;躯干、四肢散在黄豆至蚕豆大小结节,高起皮面,质较硬;会阴、阴囊见数个大小不等、质地较硬的结节或疣状增生性斑块。皮损组织病理检查：表皮角化过度,见角化不全柱,其下有角化不良细胞,颗粒层、棘层增厚,呈银屑病样增生。根据临床及皮肤组织病理,诊断为混合型汗孔角化症。     

皮内痣伴结缔组织增生性结节一例

【摘要】 患者男,28岁,因左侧胸部单发褐色肿物4年、多发小丘疹1年就诊。皮肤科检查：胸部左侧一1.2 cm × 1.1 cm × 1.0 cm褐色类圆形肿物,质韧,其右侧数个直径3 ~ 5 mm褐色丘疹,左侧腋下淋巴结未触及肿大。手术完整切除肿物后行组织病理检查：肿物和小丘疹内均可见真皮浅层痣细胞聚集成巢,考虑皮内痣;最大肿物内见一结缔组织增生性结节,其内痣细胞散在分布于纤维之间,并见痣巨细胞;结节中痣细胞体积较大,呈上皮样或梭形,细胞核呈类圆形或梭形,可见明显核仁,痣细胞分裂象少见。免疫组化：皮内痣和增生性结节内痣细胞S100均阳性;皮内痣真皮浅层痣细胞Melan-A、HMB45阳性,而增生性结节内Melan-A、HMB45阴性;皮内痣及增生性结节Ki-67 1%、CD34阳性,P16、P63均阴性。诊断：皮内痣伴结缔组织增生性结节。     

关节周围皮肤局灶性黏蛋白病

报告1例发生于指、膝关节周围的皮肤局灶性黏蛋白病。患者男,15岁。临床表现为面部和四肢皮下结节7年,四肢关节周围丘疹、结节3年。皮损组织病理检查示:真皮内黏蛋白弥漫性沉积,伴轻度成纤维细胞增生。黏蛋白阿辛蓝染色阳性。免疫组织病理检查示部分细胞Ⅷ因子、CD34阳性。     

皮肤浆细胞增多症1例

患者女,42岁。面、躯干及四肢皮疹2年。皮肤科情况:面、颈、胸、背、四肢近端多发浸润性暗红色丘疹和结节,伴高γ球蛋白血症。皮损组织病理及免疫组化示浆细胞增多症,增生细胞κ多数+,λ个别+。系统检查无明显异常,诊断:皮肤浆细胞增多症。     

Meyerson痣6例临床及病理分析

目的:探讨Meyerson痣临床及组织病理特征。方法:回顾性分析2015年1月至2020年1月第四军医大学西京皮肤医院确诊的6例Meyerson痣患者临床及病理资料。结果:6例患者中,男3例,女3例,年龄7个月至28岁,中位年龄10.5岁。3例皮损位于四肢,3例位于躯干。4例发生于先天性色素痣,2例发生于获得性色素痣。...     

Congenital eccrine angiomatous hamartoma: Expanding the morphologic presentation and a review of the literature

Eccrine angiomatous hamartoma (EAH) is a rare benign vascular hamartoma characterized histologically by an increased size and number of mature eccrine glands associated with multiple foci of dilated capillaries in the dermis and subcutis. EAH typically presents in children as discrete, solitary nodules, or plaques most commonly located on the extremities. Some cases of EAH have an agminated distribution involving classic locations, or present as solitary lesions in less common locations such as the face, scalp, or trunk. We report the case of congenital EAH in a child with atypical morphological features and pattern of distribution further expanding on the range of presentations classically described.     

Immunohistochemical double stains against Ki67/MART1 and HMB45/MITF: promising diagnostic tools in melanocytic lesions

Distinction between benign and malignant melanocytic lesions may be difficult by today's methods, even for highly skilled dermatopathologists, emphasizing the need for improved diagnostic tools. We have studied the discriminative abilities of immunohistochemical (IHC) double stains using the IHC markers Ki67 combined with MART1, and HMB45 combined with MITF. Paraffin-embedded tissue sections from 50 melanomas and 78 benign nevi were stained using a simple simultaneous IHC double staining technique. Both simple semiquantitative estimates of the immunopositivity in the deepest third of the lesions and full-scale quantitative measurements of the Ki67 and HMB45 indices were performed, and scores for melanomas and nevi were compared. The differences between melanomas and nevi were significant (P < 0.0001) using either analysis or stain. The misclassification rates for melanomas and nevi were generally lower for Ki67/MART1 stains than for HMB45/MITF stains. In the simple semiquantitative Ki67/MART1 analysis, the misclassification rates were 6% (2%-17%) for melanomas and 12% (6%-21%) for nevi. In full-scale quantitative analysis the corresponding rates were 4% (1%-14%) and 8% (4%-16%), and by combining Ki67 and HMB45 indices, the misclassification rates were 0% (0%-7%) for melanomas and 13% (7%-22%) for nevi. We conclude that both semiscale and fullscale quantitative analyses of Ki67/MART1 stains are valuable diagnostic tools to distinguish melanomas and nevi with a large degree of certainty. The HMB45/MITF stains may serve as adjuncts to predict malignancy and the diagnostic potential of combining the HMB45 and Ki67 indices are promising. The IHC double stains may potentially reduce misinterpretations of melanomas in histopathology.     

阴茎恶性黑色素瘤1例附文献复习

患者，男，73 岁,龟头部黑色斑疹4年，血尿半月。皮损病理检查示: 镜下见肿瘤细胞主要位于表皮下，细胞核大且不规则，胞质中含大量黑色素颗粒。免疫组化:肿瘤细胞S-100(+),HMB45(+), Melan-A(+), SOX-10(+),Ki67约50%阳性。     

Generalized congenital epithelioid blue nevi (pigmented epithelioid melanocytomas) in an infant: Report of case and review of the literature

The epithelioid blue nevus (EBN) is a variant of the blue nevus characterized by heavily pigmented epithelioid melanocytes and lightly or nonpigmented spindle cells. It may be associated with Carney complex, a multiple neoplasia syndrome. Congenital cases of EBN not associated with Carney complex are rarely reported. We herein describe an infant who presented with multiple blue‐gray nodules and papules involving the head, trunk, and extremities at birth, the corresponding histopathologic findings, and genetic testing results.     

BRAF(V600E)基因突变与儿童先天性色素痣的增殖活性及组织病理学特征的相关性研究

目的:明确先天性色素痣(congenital melanocytic nevi, CMN)中BRAF(V600E)基因突变对其增殖活性和组织病理学的影响。方法:回顾分析2018年12月至2020年12月我院皮肤科诊治的185例CMN患儿，所有患儿均进行基因检测、病理检查和Ki67免疫组化检测。根据基因检测结果是否存在BRAFV600E突变，将入选患儿分为突变组和对照组，然后再根据性别、年龄、皮损大小和皮损部位进行配对后进一步研究。结果:突变组Ki67指数、痣细胞累及深度、痣细胞巢个数、痣细胞巢大小与对照组比较差异均有统计学意义(均P<0.05)。与BRAF V600E阴性的CMN相比，BRAF(V600E)阳性CMN通常在表真皮交界部位形成黑素细胞巢，且巢较大。痣细胞累及深度和痣细胞巢个数与Ki67指数之间成正相关(均P<0.05)。结论:BRAF(V600E)基因突变使CMN的增殖活性明显升高，并对其组织病理学有特殊的影响。     

The association of BRAF V600E gene mutation with proliferative activity and histopathological characteristics of congenital melanocytic nevi in children

BackgroundA lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented.ObjectiveTo identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN.MethodsCMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed.ResultsThe differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells.Study limitationsA small sample of patients were included and there was no follow-up.ConclusionsBRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.     

Poroid Hidradenoma: A Two-Case Report and Literature Review

Poroid hidradenoma (PH) is a rare benign tumor that shows differentiation of the eccrine sweat gland. It occurs mainly in adults, presenting as a 0.5 to 2 cm-sized intradermal nodule, mostly on the head, extremities, trunk and neck. We report two rare cases of PH, one on the face and the other on the heel. The first patient was a 50-year-old male who had a solitary, skin-colored nodule on his right temple for 6 months. The second patient was a 67-year-old female who presented with a solitary, bean-sized, tender nodule on her left heel for 1 year. The common histological examination finding was a well-circumscribed tumor composed of solid portions and large cystic spaces in the center. The tumor cells consisted of small, monomorphic poroid cells and large cuticular cells in both cases. To our knowledge, only few cases of PH have been reported. Herein, we report two rare cases of PHs with literature review.     

Age- and site-specific variation in the dermoscopic patterns of congenital melanocytic nevi: an aid to accurate classification and assessment of melanocytic nevi

OBJECTIVES: To describe the dermoscopic features of congenital melanocytic nevi (CMN) and assess whether predominant dermoscopic patterns present in CMN are related to an individual's age (<12 years vs >or=12 years), sex, or lesional site (head, neck, and trunk vs extremities). DESIGN: Nonrandomized observational study. PATIENTS: A total of 77 consecutive patients, each with 1 CMN (n = 77 lesions), from an outpatient dermatology clinic. A diagnosis of CMN was established by (1) documentation of a melanocytic nevus during the first year of life or (2) by clinical examination and either clinical history or biopsy findings. MAIN OUTCOME MEASURES: Images of CMN were evaluated for specific dermoscopic structures and patterns. The distribution of patterns was assessed by age, sex, and lesional site. RESULTS: Most of the 77 lesions exhibited 1 of the following predominant dermoscopic patterns: reticular (18 lesions [23%]), globular (14 [18%]), or reticuloglobular (12 [16%]). Globular CMN were present in 5 of the 19 individuals who were younger than 12 years (26%) but in only 9 of the 58 individuals 12 years or older (16%). Reticular CMN were seen exclusively in the individuals who were 12 years or older. Congenital melanocytic nevi exhibiting no predominant pattern were more commonly present in the individuals younger than 12 years. Globular CMN were present in 11 head, neck, and trunk lesions (30%) compared with 3 extremity lesions (8%). Conversely, reticular CMN were present in 16 extremity lesions (40%) compared with 2 head, neck, and trunk lesions (5%). The predominant dermoscopic pattern did not vary based on sex. The most commonly observed dermoscopic structures were globules (in 64 lesions [83%]), hypertrichosis (in 61 [79%]), and reticular networks (in 55 [71%]). CONCLUSIONS: Our results suggest that the predominant dermoscopic patterns of CMN vary according to age and lesional site. These differences may inform future studies on the pathogenesis of CMN.     

Distribution of diffuse plexiform neurofibroma on the body surface in patients with neurofibromatosis 1

Neurofibromatosis 1 (NF1) is a genetic disease characterized by cutaneous, neurological and osseous abnormalities. Approximately 20% of patients develop plexiform neurofibroma (PN), resulting in impaired quality of life. To evaluate distribution of diffuse PN on the body surface, a retrospective study was conducted for 354 patients with NF1 from 2007 to 2018 in Japan. We investigated a total of 40 patients with clinically apparent superficial diffuse PN. In the cases evaluated, 57.4% of the diffuse PN were located on the trunk, 19.2% the head and neck, 12.8% the lower limbs and 10.6% the upper limbs. Remarkably, 75.0% of the diffuse PN were located on the dorsal side. The frequency was significantly higher on the trunk than on the head and neck (P = 0.026). Our findings provide useful information for giving attention to the high possibility of diffuse PN on the dorsal side before progression in childhood and for future treatment in NF1.