Cohen S B
Dis Colon Rectum. 1983 Jun;26(6):401-3. doi: 10.1007/BF02553384.
Extracolonic manifestations are often associated with familial polyposis coli, but the cysts and osteomas may be few and inconspicuous. Abnormal fibrous reactions may also occur and may be a cause of death. These manifestations act as "external markers" for the later appearances of adenomas. In any family, some individuals may manifest some extracolonic manifestations and other individuals may not. Other abnormalities, usually neoplastic, described in familial polyposis coli families, are probably fortuitous occurrences, but medulloblastoma has been found relatively frequently. Turcot's syndrome, described in a unique family, should be used more restrictively. Diagnosis depends on histology showing adenomas, but no particular number is required in an afflicted family member. Total reliance on sigmoidoscopy alone is potentially hazardous as the descending colon may be affected initially. Inherent problems regarding "isolated cases" are outlined.
结肠外表现常与家族性结肠息肉病相关，但囊肿和骨瘤可能较少且不明显。异常纤维反应也可能发生，并且可能是致死原因。这些表现作为腺瘤后期出现的“外部标志”。在任何家族中，一些个体可能出现一些结肠外表现，而其他个体可能不出现。在家族性结肠息肉病家族中描述的其他异常情况，通常为肿瘤性，可能是偶然发生，但髓母细胞瘤相对较为常见。在一个独特家族中描述的Turcot综合征，应用时应更严格限制。诊断取决于组织学显示腺瘤，但患病家庭成员中腺瘤数量并无特定要求。仅完全依赖乙状结肠镜检查有潜在风险，因为降结肠可能最初就受到影响。文中概述了关于“孤立病例”的内在问题。
