痣样基底细胞癌综合征

报告1例痣样基底细胞癌综合征.患者女,45岁.左足背无痛性红斑4个月余.皮肤科检查:左足背一3 cm×4 cm红色斑块,表面糜烂、结痴.左耳后一黄豆大暗红色丘疹,质地软.左胴窝一直径0.5 cm的淡红色斑片.双掌、跖部可见密集针尖大点状凹陷.皮损组织病理检查示基底细胞癌.诊断:痣样基底细胞癌综合征.     

发生于头面部的痣样基底细胞癌综合征

报告1例发生于头面部的痣样基底细胞癌综合征。患者女,52岁,头面部多发褐色丘疹18年。皮肤科检查:两颊不对称,头面部可见数个散在分布米粒至甲盖大褐色至深褐色的丘疹及斑丘疹,境界清楚,部分表面粗糙,可见树枝状血管,右手掌可见数个点状凹陷。皮损组织病理:真皮层内可见基底样细胞呈栅栏状排列,瘤细胞团外围收缩间隙不明显。诊断:痣样基底细胞癌综合征。治疗:采用手术、脉冲激光及外用咪喹莫特乳膏等综合治疗。     

皮脂腺痣伴多发基底细胞癌1例

皮脂腺痣是一种表皮、真皮及皮肤附属器所构成的器官样痣,临床上常见,通常出生即有,好发于头面部。皮脂腺痣可以伴发多种皮肤肿瘤,基底细胞癌是皮脂腺痣最常伴发的皮肤恶性肿瘤之一,但伴多发基底细胞癌患者并不常见,本文现报告1例。     

痣样基底细胞癌综合征研究进展

痣样基底细胞癌综合征是一种罕见的常染色体显性遗传性疾病,目前发现的致病基因包括PTCH1和PTCH2,该病可有皮肤损害、口腔损害、骨骼损害、眼睛损害及中枢神经系统损害等,治疗上采取相应的综合性措施。     

痣样基底细胞癌综合征1例及文献复习

报告1例痣样基底细胞癌综合征.患者男,68岁.头部、面部、躯干及双下肢多发米粒至鸽蛋大黑褐色丘疹、结节及斑块7年.皮肤科检查:皮损主要分布于头皮,界限清楚,部分表面破溃;双手掌可见点状凹陷.皮损组织病理检查:表皮部分缺失,棘层轻度增生,真皮可见基底细胞组成的肿瘤细胞团块,肿瘤团块与正常组织间可见裂隙,考虑基底细胞癌.诊...     

皮脂腺痣并发多发性基底细胞癌1例

报道1例皮脂腺痣患者并发10余个肿瘤,经病理组织学检查,诊断为皮脂腺痣及基底细胞癌.皮脂腺痣并发多发性基底细胞癌国内外尚未见报道.     

头皮黄色疣状斑块伴灰黑色结节——皮脂腺痣并发基底细胞癌

诊断:皮脂腺痣并发基底细胞癌. 皮损组织病理:表皮角化过度,表皮突延长,皮脂腺增生,且无对应之毛囊.真皮深部及皮下脂肪内可见汗腺:另见界限清楚的肿瘤团块,部分与表皮相连.肿瘤团块中及周围混有单个或巢状皮脂腺分化细胞.团块由基底样细胞组成,周边细胞排列成栅栏状,可见收缩间隙.     

皮脂腺痣并发基底细胞癌1例

患者女,65岁。右侧头面颈部皮疹65年,进行性加重2年。皮疹呈疣状,发于单侧,曾诊断为“疣状痣”,经组织病理检查,确诊为皮脂腺痣并发基底细胞癌     

皮脂腺痣伴乳头状汗管囊腺瘤及基底细胞癌1例

报告1例皮脂腺痣伴乳头状汗管囊腺瘤及基底细胞癌。患者女,53岁。左侧头顶部淡黄色斑片、肉红色结节50余年,逐渐增大并出现浅表溃疡2年。皮肤组织病理检查显示部分表皮下陷形成囊腔样结构,囊腔内有许多乳头状突起,囊壁及乳头状突起由两排细胞构成;临近一侧真皮内有数个基底样细胞形成的肿瘤团块,周边细胞呈栅栏装排列。     

41例皮肤基底细胞癌的临床病理及误诊分析

目的：分析总结41例皮肤基底细胞癌的临床病理特点及误诊情况。方法：对41例皮肤基底细胞癌的临床及病理资料进行回顾性分析。结果：41例皮肤基底细胞癌中,发病年龄中位数为59岁（34～82岁）,多发于头面部,共39例,占95．1％,通过组织病理检查,41例均证实为基底细胞癌。其中9例进行免疫组化标记示CK（＋）,S-100（-）。临床诊断为基底细胞癌24例,占58．5％,误诊为脂溢性角化4例,黑素细胞痣3例,鳞状细胞癌、黑素细胞瘤、寻常狼疮各2例,误诊为其他4例。结论：被误诊的皮肤基底细胞癌患者大多数年龄较大,病程缓慢,临床表现不典型。尽早行组织病理检查,并结合免疫组化标记进行识别,可提高皮肤基底细胞癌的诊断准确率。     

Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic criteria for nevoid basal cell carcinoma syndrome include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, skeletal anomalies, positive family history, ectopic calcification and neurological anomalies. We report a brother and sister who were both diagnosed with nevoid basal cell carcinoma syndrome.     

痣样基底细胞癌综合征一例PTCH1基因突变研究

目的：检测1例痣样基底细胞癌综合征(Gorlin综合征)患者的PTCH1基因突变。方法：收集患者临床资料,提取患者及其3位相关亲属（患者的父母及妹妹）外周血DNA,采用PCR扩增PTCH1基因编码区的全部外显子及其侧翼序列。同时以200例无关健康者外周血基因组DNA作对照。 结果：患者的PTCH1基因发生c.590G>A杂合突变,导致氨基酸发生p.W197X改变。患者的父母、妹妹及200例健康对照未见该基因突变位点。结论：PTCH1基因p.W197X突变很可能是本例患者Gorlin综合征的病因。     

Drug holiday approach for Vismodegib treatment in patients with nevoid basal cell carcinoma syndrome: Three cases from real clinical practice

Sonic hedgehog pathway inhibitor Vismodegib is the first systemic treatment to be approved for metastatic or locally advanced basal cell carcinoma non‐subsidiary of surgical treatment, and appears to be a promising treatment option for patients with nevoid basal cell carcinoma syndrome. In these patients, where repeated or prolonged treatment may be necessary, the psychological exhaustion caused by the chronicity of less severe adverse effects appears as the main limiting factor in the persistence of the drug in the long term and in the willingness of patients to take the drug again after its suspension. We report our experience with three cases where a drug holiday approach was effective in decreasing the intensity of adverse effects or improving the patient's subjective tolerance to the drug while maintaining clinical response.     

多发性基底细胞癌3例

目的：探讨多发性基底细胞癌的临床特点及诊治方法。方法：报告3例多发性基底细胞癌的临床表现，组织病理，结合相关文献作回顾性分析。结果：3例患者中1例表现为面颈部胸背部多发的黑褐色丘疹8年，1例表现为左侧眶周溃疡，多发结节10年，1例表现为头部多发黑色斑块2年。皮损均经组织病理检查确诊为多发性基底细胞癌。结论：多发性基底细胞癌虽然少见，但不能忽视，建议手术切除皮损，并送组织病理检查，重视术后随访。     

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed.     

A case of cutaneous myiasis caused by Wohlfahrtia magnifica

Myiasis is caused by the invasion of tissues or organs of man or animals by dipterous larvae. The disease is infrequent in Turkey; it is observed particularly in people with some predisposing factors. A 46-year-old male farmer with nevoid basal cell carcinoma syndrome (NBCCS) presented with the complaint of a blood-tinged discharge and pain in the left frontal-temporal region for three days. Physical examination revealed live maggots in the ulcerous wound resulting from basal cell carcinoma. The larvae were removed with forceps, and the wound was locally dressed with povidone-iodine. The maggots were identified as the third instar larvae of Wohlfahrtia magnifica.     

Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches

We report a case of an increasing number of discrete patches of darkly pigmented terminal hair in a patient with nevoid basal cell carcinoma syndrome. This case adds to a small case series of three patients which have previously reported this observation. We report this case to highlight hairy patches as an important clinical feature associated with nevoid basal cell carcinoma syndrome.     

Successful treatment of superficial basal cell carcinoma in the central face by photodynamic therapy in an Asian woman with dermoscopic diagnosis and a serial follow-up

Superficial basal cell carcinoma and tinea nigra sometimes share similar clinical manifestations. Herein, we report the case of a 56-year-old Asian woman with superficial basal cell carcinoma located on her philtrum, which was initially misdiagnosed as tinea nigra. We also describe the different distinguishing features of this lesion under dermoscopic examination to improve the diagnostic accuracy. Because of the relatively low rate of metastasis and less aggressive nature of a superficial basal cell carcinoma, cosmetic concerns should be taken into consideration in planning treatment. In this case, the patient received photodynamic therapy that yielded an excellent clinical response over a 9-months follow-up.     

皮肤镜在微小色素型基底细胞癌诊断中的初步研究

目的 评价皮肤镜在微小色素型基底细胞癌诊断中的价值.方法 体表疑似微小(皮损直径＜5 mm)色素型基底细胞癌患者58例,男19例,女39例;年龄16～82岁;病程3个月至25年.对每例皮损进行皮肤镜检查,留皮肤镜照片.由两名医生参照色素型基底细胞癌皮肤镜特点,仅根据照片盲法独立进行诊断.以病理诊断为金标准,通过诊断性试验的研究方法,研究皮肤镜在微小色素型基底细胞癌诊断中的敏感度、特异度及一致性.结果 58例患者中36例经组织病理学诊断为基底细胞癌,医生A皮肤镜诊断为色素型基底细胞癌41例,不是色素型基底细胞癌17例;医生B皮肤镜诊断为色素型基底细胞癌40例,不是色素型基底细胞癌18例.与病理诊断相比,两名医生皮肤镜诊断色素型基底细胞癌的灵敏度、特异度、Youden指数及Kappa值分别为97.22％、72.73％、69.95％、0.732 (P＞ 0.05)和97.22％、77.27％、74.49％、0.772(P＞0.05).结论 皮肤镜对微小色素型基底细胞癌诊断与组织病理学检查结果有较好的一致性.