Familial adenomatous polyposis (FAP) is an inherited syndrome in which colorectal polyps occur frequently and develop into colorectal cancer. It may be accompanied by dental abnormalities, such as impacted teeth, osteomatous lesions, and odontomas, which are critical for diagnosis of FAP. Although there have been many reports of dental abnormalities in patients with FAP, there are few reports of cases with FAP diagnosed based on dental abnormalities.
A 13-year-old boy with no medical history or familial history of colorectal cancer visited our hospital with a complaint of delay in tooth replacement. Examination of the limbs and trunk revealed no abnormal findings. In the oral cavity, C⌉ ⌊C ⌈D were overretained. Imaging findings revealed peripheral osteomatous lesions in the skull base and maxillary sinus and multiple osteomatous lesions in the maxilla and mandible. In addition, odontomas were observed in relation to the crowns
of 3⌉ ⌊3. ⌈4 was inverted and impacted and an impacted supernumerary tooth was observed.
The patient was referred to a pediatrician due to suspicion of FAP, and upper and lower gastrointestinal endoscopy revealed <100 colorectal adenomas and multiple polyps were observed in the stomach and duodenum. The heterozygous frameshift variant was detected by
APC screening.
It is necessary to keep in mind that abnormalities in the oral and maxillofacial region seen in relatively young patients, such as delayed tooth replacement in this case, may lead to the diagnosis of FAP.
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