Heinimann K, Kunz C, Farine E, Rey J P, Müller H, Dobbie Z
Departement Forschung, Kantonsspital Basel.
Schweiz Med Wochenschr. 1999 May 1;129(17):665-9.
We describe a 21-year-old patient hospitalised because of a dislocated mandibular fracture and accidentally found to have multiple osteomas of the skull. A subsequent gastroenterological examination revealed the presence of multiple polyps in the large intestine, typical of familial adenomatous polyposis. A disease causing germline mutation in the adenomatous polyposis coli gene was identified by molecular genetic analysis. Although extracolonic features such as multiple osteomas, multiple epidermal cysts and desmoids are frequently found, most cases without a family history of familial adenomatous polyposis or colorectal cancer are only diagnosed because of colonic disease manifestations with colorectal cancer already present. This case report strikingly illustrates that in the absence of a family history the presence of extracolonic features allows presymptomatic diagnosis in familial adenomatous polyposis patients before colorectal cancer has developed.
我们描述了一名21岁因下颌骨骨折脱位入院的患者，意外发现其颅骨有多处骨瘤。随后的胃肠检查显示大肠存在多个息肉，这是家族性腺瘤性息肉病的典型表现。通过分子遗传学分析确定了一种导致腺瘤性息肉病 coli 基因种系突变的疾病。尽管经常发现诸如多处骨瘤、多个表皮囊肿和硬纤维瘤等结肠外特征，但大多数没有家族性腺瘤性息肉病或结直肠癌家族史的病例仅在出现结直肠癌的结肠疾病表现时才被诊断出来。本病例报告显著说明，在没有家族史的情况下，结肠外特征的存在可在家族性腺瘤性息肉病患者结直肠癌发生之前进行症状前诊断。
