Osteomas in a Patient with Familial Adenomatous Polyposis
Almeida FT, Leite AF, Acevedo AC and Guerra ENS*
Laboratory of Oral Histopathology, Faculty of Health Sciences and Oral Care Center for Inherited Diseases, University of Brasilia, Brasilia, Brazil
- *Corresponding Author:
- Dr. Eliete Neves Silva Guerra
Laboratory of Oral Histopathology
Faculty of Health Sciences and
Oral Care Center for Inherited Diseases
University of Brasilia, Brasilia, Brazil
E-mail: [email protected]
Received date: July 18, 2017; Accepted date: August 02, 2017; Published date: August 07, 2017
Citation: Almeida FT, Leite AF, Acevedo AC, Guerra ENS (2017) Osteomas in a Patient with Familial Adenomatous Polyposis. J Mol Genet Med 11:283. doi:10.4172/1747-0862.1000283
Copyright: © 2017 Almeida FT, et al. This is an open-access article distributed under the terms of the creative commons attribution license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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This case report aimed to characterize dento-osseous anomalies in Familial Adenomatous Polyposis (FAP) in a Brazilian patient. Furthermore, FAP was investigate for possible causative. This case report showed the importance of dento-osseous knowledge related to FAP. Early dento-osseous anomalies diagnosis revealed the need to followup FAP family members from childhood and was essential for subsequent clinical or genetic FAP diagnosis. The authors think that this work is important as it provides highlights about the role of the dentist in the early diagnosis of FAP, a disease that predisposes colorectal cancer.
Inherited diseases; Chromosome 5q21; Colorectal polyps;
Dento-osseous lesions; Bone anomalies
A 41-year-old male patient was referred to Oral Care Center for
Inherited Diseases, University of Brasilia, Brasilia, Brazil, with a
presumptive diagnosis of Temporomandibular joint (TMJ) disorders.
Intraoral examination revealed pain and limited mouth opening. The
medical history and general physical condition were obtained and the
patient reported recent diagnosis of gastrointestinal polyps.
Dental panoramic radiographs revealed two radiopaque masses
suggesting osteomas, one on the right mandibular angle region, and
the other on the left side of the mandible, near the notch region (Figure 1A, white arrows). Furthermore, an increased diffuse radiopacity was
observed in both jaw bones (Figure 1A). Based on the clinical and
imaging findings, it could be concluded that the osseous changes were
related to Familial Adenomatous Polyposis, rejecting the previous
diagnosis of TMJ disorder. The bone anomalies and their relationship
with the adjacent anatomic structures were more precisely assessed on
cone-beam computed tomography scans (Figures 1B-1H). The patient
was referred from Division of Coloproctology of the University
Hospital of Brasília (Brasília, Brazil). A colonoscopy was performed
following genetic analysis. A next-generation sequencing panel was
made for the APC gene (Ion Ampliseq Custom Panels, Thermo Fisher)
that confirmed the diagnosis of familial adenomatous polyposis.
Figure 1: A: Dental panoramic radiograph showing two radiopaque masses suggesting osteomas, one on the right
mandibular angle region, and the other at the left side, near the notch region (White arrows). An increased diffuse radiopacity was
also observed in both jaw bones. B to H: Cone-beam computed tomography images revealing bilateral osteomas and their relationship with anatomic structures. B: Coronal refformated image. C: Axial scan. D: 3D image, superior view. E: Axial scan. F:Axial scan. G: 3D image, axial view. H: 3D image, lateral view.
Familial adenomatous polyposis (FAP) (OMIM #175100) is an
autosomal dominant inherited CRC syndrome caused by a germline
mutation of the adenomatous polyposis coli (APC) gene located at
chromosome 5q21 [1,2]. APC is a tumor suppressor gene expressed in
a variety of human tissues including colorectal epithelium, and their
inactivation constitutes the initial step in the development of CRC .
The majority of patients with FAP have a family history. The prevalence of FAP has been estimated to be approximately 1 in 10,000
live births [4,5].
In addition to colorectal manifestations, patients with FAP can
develop a variety of extra colonic alterations such as other types of cancers, gastric and duodenal polyps, desmoids tumors, hypertrophy
of the retinal pigment epithelium, epidermal cysts, and oral
manifestations. Oral manifestations can emerge before the
development of the colorectal polyps and are reported to be present
from 58% to 100% of affected individuals [6-13]. The oral
manifestations of FAP include osseous jaw lesions, odontomas,
supernumerary teeth, unerupted teeth, and oral mucosa alteration. A
recent meta-analysis showed that the frequency of osseous jaw and
dental anomalies in affected individuals were 65.35% and 30.48%,
respectively . There has been growing interest in characterizing
these alterations because they may precede CRC and may be used as
an early disease diagnostic marker [15-20].
In conclusion, this case report showed the importance of studying
dento-osseous lesions related to FAP. The early diagnosis of such bone
anomalies reinforces the need to follow-up FAP family members from
childhood and may be essential for subsequent clinical or genetic FAP
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