蓝色橡皮疱痣综合征

报道1例蓝色橡皮疱痣综合征。患者女,8岁,贫血2年余,便血8个月。皮肤科检查：全身多处蓝色包块,直径3 mm～20 mm,质如橡皮样,压之可缩小,松开后恢复原样。内镜检查：小肠多发血管畸形伴活动性出血。诊断：蓝色橡皮疱痣综合征。治疗：予口服西罗莫司治疗后,患儿皮损逐渐消退,无消化道出血发生,贫血症状缓解。治疗过程中,仅出现轻微不良反应,远期疗效随访中。     

蓝色橡皮-大疱性痣综合征1例报道

蓝色橡皮-大疱性痣综合征(blue rubber-bleb syndrome,BRBNS)为一罕见综合征,现将我院所见1例报告如下。病例介绍患者,女,39岁。全身反复发作紫色结节36年。自3岁起全身出现多发性紫红色结节,曾诊断为血管瘤,后逐年增加,多达200余个,在当地医院曾行手术、激光切除治疗20余次。2003年患者因胃出血在当地医院行胃大部切除术,术后组织病理示:胃多发性血管瘤。     

蓝橡皮疱样痣综合征1例

患者男,17岁,农民。临床表现为全身分布约百余个大小不一的蓝紫色、蓝青色乳头样隆起,有弱性,柔软可压缩的血管瘤,同时伴有胃肠血管瘤损害以及消化道出血、贫血。     

Blue rubber-bleb nevus syndrome: a case report

Blue rubber-bleb nevus syndrome (BRBNS) is an uncommon systemic disorder characterized by cutaneous and visceral cavernous hemangiomas. The characteristic rubbery textured and easily compressible lesions usually present in childhood and predominate cutaneously over the trunk and extremities. Gastrointestinal foci appear most commonly in the small bowel, a site that appears to dominate visceral involvement. We review the case of a 23-year-old white woman, whose numerous lesions on her trunk, extremities, and oral mucosa had been present since childhood.     

Marshall-White综合征并发蜘蛛痣

报告1例Marshall-White综合征并发蜘蛛痣.患者女,22岁.3年前右上肢出现色素减退斑,直径0.2～2.0 cm,下垂、按压或屈曲肢体时色素减退斑更加明显,平卧或抬高患肢至心脏水平时消退,半年前右上肢又出现多枚蜘蛛痣.     

Blue nevus of the nail: A case report and review

Blue nevus (BN), in all its clinical variants, rarely affects the nail bed. This leads to difficulty in the diagnosis of BN within the nail bed as well as to challenges with regard to its treatment and follow‐up management, not solely attributed to the intrinsic difficulty of the anatomical site. We present the first case in the literature of an acquired cellular BN entirely confined within the nail bed, in a female Caucasian patient. We propose diagnostic and therapeutic options based on personal clinical and surgical experience.     

蓝色橡皮-大疱性痣综合征

患者男，17岁一头昏、倦怠、乏力、面色苍白、全身起蓝色皮疹10年体格检查发现全身皮肤散在大小小等的蓝色斑疹、丘疹、结节，斑疹压之可褪色，结节质软如像皮，可被压缩，部分有轻压痛组织病理检查显示为海绵状血管瘤的特性一胃镜检查示食管、胃体、胃窦散在数个直径0．5～1cm圆形血管瘤样肿物，诊断为蓝色橡皮-大疱性痣综合征。     

线状皮脂腺痣综合征1例

报告1例线性皮脂腺痣综合征，患者男，23岁，头皮中线，右前额至鼻尖和左面颊，下颌至颈部两片大面积皮脂腺痣，双眼角结膜胬肉样改变及高度近视眼底，X线片示蝶鞍增大，提示鞍区占位性病变。     

西罗莫司联合普萘洛尔治疗婴儿蓝色橡皮疱痣综合征一例

患儿女,１个月８天龄,因皮肤蓝紫色结节１个月余,便血2 d入院。患儿生后第2天全身即出现散在蓝紫色斑（图1A）,压之褪色。出生后血红蛋白进行性下降,出生当日血红蛋白163 g/L,第4天降至122 g/L,大便隐血实验强阳性,临床诊断蓝色橡皮疱痣综合征,给予注射用奥美拉唑钠抑酸护胃治疗4 d后家长带患儿自动出院,出院时血红蛋白123 g/L……     

双侧太田痣合并贫血痣一例

患儿,女,9岁。面部色斑9年。皮肤科查体符合太田痣和贫血痣表现。太田痣采用调Q激光处理,治疗后2年复诊,面部褐青色斑片消失。贫血痣未处理。     

Meyerson痣一例

报道Meyerson痣一例。患者,女,78岁。右上臂肿块70年,伴红斑瘙痒3个月,皮损组织病理示：轻度角化过度,棘层肥厚,皮突延长,真皮内痣细胞和痣细胞巢,部分呈毛玻璃样,部分增生活跃,有较多淋巴细胞和嗜酸粒细胞为主的炎细胞浸润,有成熟现象,外围血管增生和炎性细胞浸润。诊断：Meyerson痣。     

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。     

Recurrent nodules in a periauricular plaque‐type blue nevus with fatal outcome

Plaque‐type blue nevus is a rare variant of blue nevus characterized by grouped nodules displaying histomorphological features of a cellular blue nevus. We report the clinical, histopathologic and immunohistologic features of a patient with recurrent nodules in a periauricular plaque‐type blue nevus with malignant transformation and fatal outcome. The nevus was characterized clinically by childhood onset, with slow enlargement during adolescence. At age 16, the patient presented with nodules located retroauricularly. Several surgical excisions with the intent of complete removal of the nodules and the nevus were performed. Histopathological, dermal and subcutaneous proliferations of pigmented melanocytes with melanophages were detected. The nodules showed some cellular atypia and few mitotic figures, (Ki67 estimated <1%). At age 20, the patient developed new nodules retroauricular, with histopathology similar to previous lesions; however, the proliferation rate was higher. A comparative genomic hybridization (CGH) showed chromosomal changes indicative of melanoma. At age 25, the patient developed multiple liver metastases and died after 4 weeks. A sequencing of the tumor DNA revealed a GNAQ Q209P mutation, whereas mutations of GNA11, BRAF, NRAS and cKIT were not detected. This case shows that nodules in plaque‐type blue nevus may have malignant potential which may be uncovered by CGH.     

黏蛋白痣一例

患者,男,28岁。右侧腰部出现多发褐色丘疹、斑块10年。皮肤科查体：右侧腰腹部散在粟粒至蚕豆大褐色丘疹、斑块,部分融合成片。皮肤组织病理示：表皮角化过度伴角化不全、棘层肥厚,呈疣状增生,表皮突延长,有散在或小片状的淋巴细胞及组织细胞浸润。阿新兰染色阳性。诊断：黏蛋白痣。患者拒绝治疗。     

Schimmelpenning综合征

报告1例Schimmelpenning综合征.患者女,20岁.头面部出现棕褐色、棕红色斑块20年.眼科检查示左上眼睑近内眦外有一增生物,双眼视力下降,左眼视乳头发育畸形,脉络膜部分缺损.左上眼睑增生物组织病理检查显示为分化良好的脂肪细胞,无明显异形,未见核分裂象,瘤体内有不规则的小血管.头皮皮损组织病理检查显示表皮棘层肥厚,真皮乳头瘤样增生,皮脂腺小叶增生,腺体分化成熟,无皮脂腺导管.头颅CT示左额骨局限性受压膨隆,皮质变薄.     

Complex ocular choristomas in linear nevus sebaceus syndrome: a report of two cases.

Two cases of linear nevus sebaceus syndrome (LNSS) are described in which ipsilateral facial nevus of Jadassohn was associated with complex ocular choristoma. One patient also had scleral osteomas, a rare occurrence in LNSS.     

皮损中有瓷白色斑的无色素痣

报告1例皮损中有瓷白色斑的无色素痣。患者女，24岁。出生时右侧颈肩部有色素减退白斑，近半年白斑中出现瓷白色斑，并逐渐增多，无自觉症状。皮肤科检查：右侧颈肩部带状分布片状不规则色素脱失斑，其间密集分布针尖至米粒大瓷白色色素脱失斑。白斑处组织病理检查：表皮角化过度。散在毛囊角栓，部分棘层轻度肥厚，基底层透明细胞增多，呈群集性分布，少量黑素颗粒。真皮浅层炎性细胞浸润。     

儿童表皮痣综合征1例

 报告儿童表皮痣综合征1例。患儿女,6周岁,脚趾畸形6年,右侧下肢、腰部、肩部、项部及左侧脚背部散在红斑、丘疹5年余。患儿出生时右侧第2、3脚趾畸形,第3、4脚趾向内侧弯曲,右侧脚踝出现红色丘疹,丘疹逐渐增多并蔓延至整个右侧脚踝及脚背部;出生后2个月左右,右侧腰部、肩部、项部及左侧脚背开始出现红色丘疹,红色丘疹逐渐增多并融合,伴有明显的瘙痒感。皮肤科检查：右侧腰部、腹股沟、下肢及脚踝、脚背部红色疣状丘疹,伴有黄色鳞屑,部分融合成片状或线状;右侧肩部及项部肤色、棕色、红色丘疹;左侧脚背部线状红色斑块,皮疹沿Blaschko线分布。右侧第2、3脚趾畸形,第3、4脚趾向内侧弯曲。皮损组织病理示：表皮角化过度,表皮突下延,棘层肥厚,真皮浅层血管周围见少量炎性细胞浸润。诊断：表皮痣综合征。     

皮脂腺痣并发毛母细胞瘤

报告1例皮脂腺痣并发毛母细胞瘤。患者女,39岁。出生即发现右侧耳周芝麻至粟粒大褐色丘疹。皮肤科检查:右侧耳前部可见条带状斑块,呈蜡样光泽,其上有结节,局部糜烂及结痂;右侧耳后部可见密集分布的蜡黄或棕褐色角化性丘疹或斑块,边界清楚。皮损组织病理检查:表皮突延伸,区域表皮长出多个原始的毛乳头样结构,周边细胞呈栅栏状排列;真皮层可见结节状的毛母细胞瘤以及大量皮脂腺结构,下方无毛囊。诊断:皮脂腺痣并发毛母细胞瘤。治疗:予手术切除。