Mandibular Osteomas in Unaffected Sibs and Children of Patients with Familial Polyposis Coli

Abstract

Orthopantomography of the mandible (OTM) showed osteomas in 3 of 34 non-affected sibs and children of the probands in 14 families with polyposis coli. The observed to expected ratio with osteomas was 0.35, which is not significantly lower than 1.0 and in accordance with the frequency in the normal population. Although the result does not enable a definite evaluation of the diagnostic value of OTM, the finding suggests that this method may be used as a supplement to regular proctosigmoidoscopic screening of first-degree relatives of polyposis patients.

Evaluation of Guidelines for Management of Familial Adenomatous Polyposis in a Multicenter Pediatric Cohort

“…Thus far, the literature has provided little information on the age distribution at diagnosis of CRC in FAP patients younger than 20 years because most cases are diagnosed at a premalignant stage. Before the era of genotyping, Peck et al (5) severe dysplasia in a cohort of 13 patients 11 to 16 years of age, all of whom presented significant gastrointestinal symptoms, in contrast to our study results (2 rectal bleedings of 6). Surprisingly, in a small monocentric cohort of 11 teenagers (22) who underwent prophylactic colectomy at a mean age of 13 AE 3.2 years, a high rate of severe dysplasia (27%) was reported.…”

“…We describe here the largest series of children ever diagnosed as having FAP. Previous reports mainly involved small cohorts, and most of them were published before the era of genotyping (4–8) or were case reports (9–12). The role of molecular testing for at‐risk members in childhood in case of mutations that predispose to early onset of FAP has been emphasized (18–22), leading to recently published guidelines for the clinical management of FAP.…”

“…In pediatrics, only small series or case reports (4–12) have been reported. The aim of the present study was to collect a large pediatric multicenter cohort with follow‐up to 18 years of age.…”

Incidence of associated diseases in familial polyposis coli

“…first-degree relatives is not possible on the basis of this study. However, the method is simple, inexpensive, and without risk; and therefore it is recommended as a supplement to regular proctosigmoidoscopy in the prophylactic examination of first-degree relatives [7].…”

Diagnosis of familial adenomatous polyposis

“…As mentioned above, a pan-tomographic detection of multiple osteomas in the mandible has been used as a screening method [55]; however, due to the detection of the FAP gene, the high diagnostic sensitivity of CHRPE, and the lower diagnostic sensitivity of pan-tomography, this method can no longer be recommended as a diagnostic method. Screening for FAP is now becoming an increasing interaction between basic and clinical research, and the present status can be illustrated by a recent study.…”