Thakker N S, Evans D G, Horner K, Davies D R, Armstrong J, Guy S, Harris R, Sloan P
Department of Medical Genetics, Central Manchester Healthcare Trust, St. Mary's Hospital, Manchester, UK.
J Oral Pathol Med. 1996 Sep;25(8):459-62. doi: 10.1111/j.1600-0714.1996.tb00297.x.
Early identification and prophylactic surgery are essential in preventing development of malignancy in colorectal polyps in familial adenomatous polyposis (FAP). Previous studies indicate a 100% cumulative risk of developing colonic polyps in individuals with FAP by the age of 34 yr. However, we have previously reported late-onset and non-penetrance of polyposis in four families. We describe here in detail one of these families with florid oral manifestations detectable on panoramic radiography of the jaws, which were instrumental in the diagnosis of FAP in the index patient and for ascertainment of her family for screening. The pathological adenomatous polyposis coli (APC) gene mutation in this family was shown to segregate with dento-osseous changes. Panoramic jaw radiography is a common examination carried out prior to dental or oral surgical procedures. This case illustrates the importance of appropriate investigations, including family history and colonoscopy, even in relatively older patients with radiological findings such as those described here and in members of their families at risk of FAP.
早期识别和预防性手术对于预防家族性腺瘤性息肉病（FAP）患者结直肠息肉发生恶变至关重要。既往研究表明，FAP患者到34岁时发生结肠息肉的累积风险为100%。然而，我们之前报道过4个家族中息肉病的迟发和不完全外显情况。我们在此详细描述其中一个家族，该家族在颌骨全景X线片上可检测到明显的口腔表现，这些表现有助于索引患者FAP的诊断及其家族成员的筛查。该家族中病理性腺瘤性息肉病（APC）基因突变与牙骨质-骨改变相关。颌骨全景X线片是牙科或口腔外科手术前常用的检查。本病例说明了即使在相对年长的患者中，进行包括家族史和结肠镜检查在内的适当检查的重要性，这些患者有本文所述的影像学表现，其家族成员有患FAP的风险。
