黑子、面正中黑子病和泛发性黑子的研究进展

黑子、面正中黑子病及泛发性黑子病是由黑素细胞、黑色素的生成异常所造成的色素增加性皮肤病。黑子又称雀斑样痣,是指发生于皮肤或黏膜的黑色或褐色斑,其病因不明;面正中黑子病属常染色体显性遗传性疾病,可伴发其他系统疾病;泛发性黑子病又称为泛发性雀斑样痣,多从婴儿期开始发病,出现逐渐增多的多发性黑子。三种疾病均无特殊的治疗方法。     

原发性色素沉着过度性疾病

一、原发性色素沉着过度性胎记:痣细胞性疾病;咖啡斑;黑子(lentigo);表皮痣;真皮黑变病。(一)痣细胞疾病:1.痣细胞痣(先天性色素痣、交界痣、混合痣、皮内痣、恶性黑子、黑素瘤);2.泛发性痣细胞性疾病〔发育不良痣或前体综合征(precursor syndrome)、Moynahan 综合征、NAME 综合征〕。     

调Q开关翠绿宝石激光治疗282例色素性皮肤病临床分析

<正>治疗的282例皮肤色素性疾病包括脂溢性角化症、斑痣、褐青色痣、黄褐斑、咖啡斑、口周黑子、雀斑、雀斑样痣、色素沉着斑、色素性毛痣、色素痣、太田痣、外伤粉尘沉着、文身、伊藤痣、遗传性对称性色素异常。观察就诊患者的疗效及不良反应。结果:脂溢性角化症、雀斑3次治愈率100%。斑痣4次治疗有效率64.7%,治愈率17.6%。太田痣6     

成人表皮痣综合征1例

 报告1例成人表皮痣综合征。患者男,28岁,因皮疹、智力低下、多动28年,间断抽搐27年就诊。皮肤科检查：额部、眼周、颈部可见弥漫性密集的淡褐至褐黑色乳头瘤样角化性丘疹,触之坚硬,似高起鱼鳞病、先天性良性黑棘皮病样。躯干、双上肢、四肢皮损角质增厚,较额部、眼周、颈部薄,可见弧形带状或旋涡状排列,不规则斑片状或斑点状色素脱失斑,与增生性皮损及正常皮肤相互交错。颈部皮损组织病理检查示纤维上皮性息肉改变,胸部皮损组织病理检查示表皮痣样改变。脑电图：脑电图异常伴高中波幅尖波及4~7 Hz的θ节律短阵出现。诊断为表皮痣综合征。     

姐妹同患黑头粉刺痣2例

黑头粉刺痣，又名痤疮样痣，角化性毛囊痣。本病系毛囊局部发育异常、临床上罕见。我们遇到2例姐妹同患黑头粉刺痣，现报道如下。     

黑头粉刺痣1例

黑头粉刺痣又名毛囊角化痣、痤疮样痣。本病较为少见，现将我们遇到的1例报道如下。     

日光性黑子病因研究进展

日光性黑子(solar lentigo,SL)也称为日光性雀斑样痣、老年性色素斑或老年性黑子。多见于面部、手背以及前臂等日光暴露部位,呈圆形、椭圆形或不规则形棕褐色色素斑,为中老年人皮肤老化的一种表现。病因未完全阐明,过去认为主要与日光暴露有关,但近期一系列流行病学及机理研究表明,除外日光暴露,皮肤类型、环境空气污染、吸烟以及激素治疗等因素也参与SL样皮损的形成。SL虽为良性色素斑,但其可影响美观,对患者生活质量存在消极影响。近年来,随着人们对美观要求的提高,临床上就诊的SL患者越来越多,而国内外对此病仍缺乏认识。因此,本文利用现有的证据总结除日光暴露以外的其他因素在SL发病中的作用,以期为本病的临床诊断及预防提供参考。     

发育不良性痣11例临床病理学分析

目的 探讨发育不良性痣的临床病理学特点。方法 对11例临床表现为色素性损害的手术标本行H-E染色，结合临床指标及评分进行研究和分析。结果 临床表现：皮损直径≥5mm者8例，多发性损害者7例，边界模糊者4例，外形不规则者6例，痣表面色素不匀者4例，基底色红者6例。光镜下：交界痣3例，复合痣8例。发育不良性痣较为特异的组织学表现为真表皮交界处雀斑样增生，痣细胞巢增生紊乱倾向于形成“桥型”融合。表皮下方的非典型黑素细胞在基底层呈“Paget”样蔓延，真表皮交界处的黑素细胞向周围延伸，并超过真皮内的痣细胞成分。非典型黑素细胞：细胞核较角质形成细胞核大，多形性，出现核仁，深染。结论 临床和组织病理相结合是诊断发育不良性痣的可行性标准，仅根据组织学的非典型性不能诊断发育不良性痣。     

以泛发性雀斑样痣为皮肤表现的临床综合征

雀斑样痣临床表现为分布境界清楚的棕黑色斑点,可以仅有皮肤受累,也可表现为系统疾病的一部分.临床上以雀斑样痣为皮肤表现的综合征呈常染色体显性遗传,皮肤受累表现为特征性的多发性雀斑样痣,同时伴有不同的系统如心血管系统、内分泌系统、神经系统和骨骼的受累.主要探讨Carney综合征、Leopard综合征、Peutz?Jeghers综合征、Laugier?Hunziker综合征、PTEN相关的错构瘤综合征、雀斑样痣伴动脉夹层综合征和家族性泛发性雀斑样痣共7种以雀斑样痣为皮肤表现的综合征的临床表现和致病基因,并对其发病的分子学机制进行探讨,以加深对该疾病的认识.     

浅表脂肪瘤样痣6例临床及病理分析

目的：介绍不同部位、不同发病年龄的浅表脂肪瘤样痣患者的临床及病理学特点。方法：回顾6例患者的病史及临床、病理资料。结果：经病理学证实6例患者均为多发型浅表脂肪瘤样痣。手术切除皮损后，均取得了满意的效果。结论：多发型浅表脂肪瘤样痣可发生在30岁之前，臀部、骨盆及其他部位，躯体的单侧或双侧；有时皮损可合并有皮下肿块。     

Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi

BACKGROUND: Currently, there is disagreement as to whether speckled lentiginous nevi (nevi spili) are congenital or acquired pigmented lesions. Part of this controversy is related to the natural history of these lesions that often present at birth as hyperpigmented patches and then take several years to reach their more readily recognized spotted form. Arguments in favor of speckled lentiginous nevi as a subtype of congenital nevi include the following observations: multiple reports of lesions present at birth or noted soon thereafter; patterns of distribution reflecting embryonic development; hamartomatous behavior with various types of nevi (eg, junctional nevi, blue nevi, and Spitz nevi) presenting in the same lesion over time; and histologic features of congenital melanocytic nevi within the spots. Herein we present additional evidence for the congenital nature of speckled lentiginous nevi. OBSERVATIONS: Ten patients are described with congenital pigmented lesions that had the clinical appearance of speckled lentiginous nevi in whole or in part. These lesions either evolved and acquired an appearance more suggestive of "classic" congenital nevi, or they existed as "hybrid" lesions with portions appearing as classic congenital nevi adjacent to or admixed with portions appearing as speckled lentiginous nevi. On histologic examination, biopsy specimens from the spots within these lesions showed features of congenital melanocytic nevi. CONCLUSIONS: These 10 cases, along with the arguments outlined above, provide strong support for the hypothesis that speckled lentiginous nevi are a subtype of congenital melanocytic nevi.     

Spitz nevi arising in speckled lentiginous nevus: clinical, histologic, and molecular evaluation of two cases

Spitz nevi are small dome-shaped nodules that sometimes arise in areas of preexisting hyperpigmentation, such as a speckled lentiginous nevus (nevus spilus), where they present a diagnostic dilemma. We report clinical, histopathological, and molecular findings of two cases of multiple Spitz nevi arising in a speckled lentiginous nevus. We used immunohistochemistry to assess expression of Ki-67, epidermal growth factor receptor, vascular endothelial growth factor, and RelA in two cases of Spitz nevi arising in a speckled lentiginous nevus. We observed rare staining for the proliferative marker Ki-67, but positive staining for the growth and antiapoptotic factors epidermal growth factor receptor, vascular endothelial growth factor, and RelA. Characterization of the molecular phenotype of Spitz nevi arising in speckled lentiginous nevi may provide a useful adjunct to long-term monitoring in this rare but difficult clinical presentation.     

Blue nevi and basal cell carcinoma within a speckled lentiginous nevus

We describe an unusual case of blue nevi and basal cell carcinoma arising within a speckled lentiginous nevus and discuss the relationship between epithelial tumors and nevoid growth of melanocytes.     

Unusual clinical presentation of melanocytic nevi

Two patients with congenital pigmented lesions with a speckled clinical appearance are described. The lesions were nevus spilus (synonym: speckled lentiginous nevus) and agminate congenital nevi. The clinical aspects of nevus spilus and agminate nevi are reviewed.     

Association of nevus sebaceus with an unusual type of "combined nevus"

A case of nevus sebaceus with development of a basal cell epithelioma is described. This case of nevus sebaceus was characterized by an association with extensive nevoid growths of melanocytes in the same lesion. The nevoid growths of melanocytes showed features of an unusual "combined nevus", representing a combination of speckled lentiginous nevus with blue nevi. We discuss the relationship between nevus sebaceus and nevoid growths of melanocytes.     

Extensive speckled lentiginous nevus associated with giant congenital melanocytic nevus: an unusual example of twin spotting?

A 15-year-old boy had an unusual combination of giant congenital melanocytic nevus on his back and a large speckled lentiginous nevus arranged in a checkerboard pattern on the dorsal and lateral aspects of his trunk. The two pigmentary nevi showed distinguishing features both clinically and histopathologically. The speckled lentiginous nevus was not noted at birth but became visible during childhood. We hypothesize that this uncommon co-occurrence may represent a further example of twin spotting and may be categorized as a new, distinct type of phacomatosis.     

Speckled lentiginous nevus

Speckled lentiginous nevus is, we feel, a distinctive nevocytic disorder and a clinical variety of nevus-cell nevus. The speckled areas show varying histological patterns that range from nevus incipiens to junctional and compound nevi. The background shows histological features of lentigo simplex. It is our contention that speckled lentiginous nevus should be separated from nevus spilus and nevus spilus tardus (Becker's), which we consider to be variants of epidermal nevus.     

Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica

Phacomatosis pigmentokeratotica (PPK) is characterized by the co‐existence of epidermal nevi and large segmental speckled lentiginous nevi of the papulosa type. PPK, previously explained as ‘twin spot’ mosaicism due to the postzygotic crossing‐over of two homozygous recessive mutations, has recently been shown to derive from one postzygotic activating RAS mutation. Epidermal nevi, including those in PPK, are known to give rise to neoplasms such as trichoblastoma and basal cell carcinoma. Within speckled lentiginous nevi, Spitz nevi and melanoma have been well documented. We report a case of PPK with a combined melanocytic and adnexal neoplasm presenting where the nevi conjoined. Using next‐generation sequencing techniques, we were able to identify the same HRAS G13R mutation within both components of the tumor, and to show the absence of additional mutated modifier genes in a panel of 300 cancer‐related genes. Given the genetic findings in this rare tumor‐type, we suggest that this case may be used as a model for understanding the development of biphenotypic neoplasia or intratumoral heterogeneity in some cases.     

Speckled lentiginous nevus: A rare presentation associated with motor neuropathy and muscular atrophy in a child

Speckled lentiginous nevus syndrome has been described in individuals with a speckled lentiginous nevus with rare associated neurologic deficits. Because speckled lentiginous nevus syndrome almost always affects adults, it is not typically considered when evaluating children. We present the first reported case of speckled lentiginous nevus syndrome presenting in a young child with muscle atrophy and motor deficits affecting muscles along the same distribution as the speckled lentiginous nevus.     

Speckled lentiginous nevus syndrome: report of a further case

A 42-year-old man had a large speckled lentiginous nevus on the left side of his trunk. The involved area was painful when touched and paresthetic. Moreover, the ipsilateral half of his body showed a pronounced hyperhidrosis. This case can be categorized as a typical example of speckled lentiginous nevus syndrome, a recently recognized phenotype characterized by a speckled lentiginous nevus of the papular type and ipsilateral neurological abnormalities in the form of dysesthesia, muscular weakness or hyperhidrosis. Speckled lentiginous nevus syndrome represents a mosaic phenotype. Most likely it originates from loss of heterozygosity occurring in a heterozygous embryo at an early developmental stage.