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Gorlin 综合征中的色素性基底细胞癌:两种具有不同皮肤镜表现的病例。

Pigmented basal cell carcinomas in Gorlin syndrome: two cases with different dermatoscopic patterns.

机构信息

Dermatological Clinic, University of Piemonte Orientale A. Avogadro, Novara, Italy.

出版信息

Clin Exp Dermatol. 2011 Aug;36(6):617-20. doi: 10.1111/j.1365-2230.2010.03987.x.

Abstract

We describe two nonconsanguineous white patients with multiple pigmented basal cell carcinomas (BCCs) that were histopathologically confirmed. The first patient had calcification of the cerebral falx, multiple keratocysts in the jaw, and other malformations of the cranial and finger bones. The second patient presented with multiple dermoid cysts, calcification of the cerebral falx, keratocysts of the mandible, and agenesis of left kidney. Both patients had palmar pits. Both denied any family history of cutaneous tumours. On dermatoscopic examination of patient 1, multiple, bluish, confluent and large globules were seen. The second patient had blue ovoid globules, arborizing vessels, and areas shaped like maple leaves and spoke-wheels. Based on the clinical and radiological features we diagnosed both patients as having Gorlin syndrome (GS). To our knowledge, there are no previous reports of white patients with GS showing only pigmented BCCs. The dermatoscopic patterns were different in the two patients, and to our knowledge, this is the first report of a patient with GS showing a spoked-wheel dermatoscopic pattern.

摘要

我们描述了两名非近亲的患有多发性色素基底细胞癌(BCC)的白人患者,这些病例均经组织病理学证实。第一位患者存在大脑镰钙化、颌骨多发性角化囊肿以及颅面骨和指骨的其他畸形。第二位患者表现为多发性皮样囊肿、大脑镰钙化、下颌骨角化囊肿和左肾发育不全。两位患者均有手掌凹痕。他们均否认有皮肤肿瘤的家族史。在对患者 1 进行皮肤镜检查时,我们观察到多个蓝灰色、融合且大的球形物。第二位患者则具有蓝色卵圆形球形物、树枝状血管以及枫叶状和轮辐状区域。根据临床和影像学特征,我们诊断这两名患者均患有 Gorlin 综合征(GS)。据我们所知,此前尚无白人 GS 患者仅表现为色素性 BCC 的报道。这两名患者的皮肤镜模式存在差异,据我们所知,这是首例报道 GS 患者表现为轮辐状皮肤镜模式的病例。

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