[痣样基底细胞癌综合征]

[Nevoid basal cell carcinoma syndrome].

作者信息

Grgic Aleksandar, Aliani Schahin, Dill-Mueller Dorothee, Heinrich Marc, Heckmann Martina, Kramann Bernhard, Uder Michael

机构信息

Radiologische Klinik, Abteilung für Diagnostische und Interventionelle Radiologie, Universitatsklinikum des Saarlandes, Kirrbergstrasse 1, 66421 Homburg/Saar.

出版信息

Rontgenpraxis. 2005;56(1):29-36. doi: 10.1016/j.rontge.2005.04.001.

DOI:10.1016/j.rontge.2005.04.001

PMID:16218525

Abstract

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, calcification of the falx cerebri, and spine and rib anomalies. The combination of clinical, imaging, and histological findings is helpful in identifying NBCCS patients. Imaging plays a crucial role in evaluation of these patients. We present a wide variety of clinical and radiological findings characteristic of this disease.

摘要

痣样基底细胞癌综合征（NBCCS）是一种常染色体显性疾病，其特征为多发性基底细胞癌、颌骨囊肿、掌跖凹陷、大脑镰钙化以及脊柱和肋骨异常。临床、影像学和组织学检查结果相结合有助于识别NBCCS患者。影像学在评估这些患者中起着关键作用。我们展示了该疾病的各种临床和放射学特征。