Lacombe D, Chateil J F, Fontan D, Battin J
Clinique de Pédiatrie et Génétique Médicale, Hôpital des Enfants, Bordeaux.
Genet Couns. 1990;1(3-4):273-7.
The nevoid basal-cell carcinoma syndrome (NBCCS) is a rare autosomal-dominant inherited disorder. Its clinical manifestations are multiple basal-cell nevi and cysts of the jaw along with skeletal anomalies and various combinations of numerous other defects. NBCCS is characterized by a marked propensity for developing cancers. One of the most frequently reported tumour is brain medulloblastoma. We are reporting two cases of NBCCS and medulloblastoma. A review of the case reports demonstrates certain prominent features of medulloblastoma associated with NBCCS. The patients generally are males, presenting at an unusually young age, under 5 or 2 years and show a longer survival rate. Its lay down to search for NBCCS in early medulloblastoma's, especially under 2 years.
痣样基底细胞癌综合征（NBCCS）是一种罕见的常染色体显性遗传性疾病。其临床表现为多发性基底细胞痣、颌骨囊肿以及骨骼异常，还有许多其他缺陷的各种组合。NBCCS的特点是患癌倾向明显。最常报道的肿瘤之一是脑髓母细胞瘤。我们报告了2例NBCCS合并髓母细胞瘤的病例。对病例报告的回顾显示了与NBCCS相关的髓母细胞瘤的某些突出特征。患者通常为男性，发病年龄异常小，5岁以下或2岁以下，且生存率较长。建议在早期髓母细胞瘤，尤其是2岁以下的髓母细胞瘤中筛查NBCCS。
Zotero 插件