|Year : 2016 | Volume
| Issue : 4 | Page : 470-473
Polyps of malignancy: Gardner's syndrome
Puneet Bhargava1, Kruthika Guttal2, Saba Khan3, Chandni Shekhawat4
1 Department of Oral Medicine and Radiology, Nims Dental College, Jaipur, Rajasthan, India
2 Department of Oral Medicine and Radiology, Sri Dharmasthala Manjunatheshwara College of Dental Sciences, Dharwad, Karnataka, India
3 Department of Oral Medicine and Radiology, Darshan Dental College and Hospital, Udaipur, Rajasthan, India
4 Department of Oral Medicine and Radiology, Government Dental College, Jaipur, Rajasthan, India
|Date of Submission||13-Feb-2016|
|Date of Acceptance||20-Jan-2017|
|Date of Web Publication||21-Feb-2017|
Dr. Saba Khan
Department of Oral Medicine and Radiology, Darshan Dental College and Hospital, Udaipur - 313 001, Rajasthan
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Gardner's syndrome is a hereditary autosomal dominant disorder with complete penetrance and variable expression. The disease is characterized by multiple intestinal polyps, osteomas and supernumerary teeth. Gardner's syndrome is linked to mutations on the long arm of chromosome 5 (5q21-q22) referred to as the adenomatous polyposis locus. It has 100% potential for malignant change. Increase in loss of heterozygosity percentages of chromosome 18q21 have suggested that 'Deleted in Colon Cancer' (DCC) gene may be involved in the progression of benign adenomas to malignant carcinomas. We report a case of Gardner's syndrome with similar findings along with presence of multiple epidermal inclusion cysts. The patient's father had died of intestinal cancer. An oral physician may be the first person diagnosing the condition based on orofacial manifestation. Early recognition of this disease can be lifesaving to the patient.
Keywords: Epidermal cysts, impacted, intestinal polyposis, osteomas, syndrome
|How to cite this article:|
Bhargava P, Guttal K, Khan S, Shekhawat C. Polyps of malignancy: Gardner's syndrome. J Indian Acad Oral Med Radiol 2016;28:470-3
| Introduction|| |
Gardner's syndrome is a hereditary autosomal dominant disorder with complete penetrance and variable expression. The syndrome constitutes of familial polyposis of large intestine, osteomas, skin lesions consisting of epidermoid cysts and fibromas, and multiple impacted supernumerary and permanent teeth. Incidence being 1:14025, it can be present in age group ranging from two months to 70 years. The term was coined by Gardner and Richards in 1953.
| Case Report|| |
A 32-year-old female patient approached the Department of Oral Medicine and Radiology with the chief complaint of swelling on the right lower one-third of the face since 2 months [Figure 1]. Swelling was gradual in onset and increased to the present size. No secondary changes were observed with the swelling. When the patient was asked about the presence of any other lumps on the body, she revealed that there was a similar swelling of greater dimension present on the lower back, right knee [Figure 2], and left axilla for which she had consulted the physician. There was no significant medical and dental history, though patient's father had died of intestinal cancer. General examination revealed that patient was well nourished and moderately built with normal vital signs.
Extraoral examination revealed a well-defined solitary ovoid cystic swelling present on the right side of the lower one-third of the face measuring 8 mm in diameter located 2 cm from the inferior border of the mandible and 3 cm from the right oral commissure. The surface was smooth with color same as that of the surrounding skin with no pulsation seen. On palpation, the swelling was well-defined with smooth margins, nontender, cystic in consistency, free from underlying structure, and mobile. It was noncompressible, nonreducible, nonfluctuant, and nonpulsatile. The temperature was not raised and the overlying skin was nonpinchable. A similar swelling of greater dimension was present on the lower back, right knee and left axilla, which were also cystic, and fluctuation test was positive giving a clinical diagnosis of sebaceous cyst.
Intraoral examination revealed diffuse ovoid swelling present in the right lower vestibule measuring 2 cm in diameter extending mesiodistally from the distal margin of 45 to 47. The overlying vestibular mucosa was normal in color, smooth and stretched. On palpation, the swelling was nontender, well-defined with smooth margins and bony hard. The overlying vestibular mucosa could be moved over the swelling, suggesting that the swelling was attached to underlying structure. Clinically missing permanent teeth were 11, 12, 13, 14, 15, 24, 25, 33, 34, 43, 44 and 45. The simultaneous occurrence of multiple sebaceous cysts, presence of clinically missing permanent teeth, and intraoral bony swelling suggested a provisional diagnosis of Gardner's syndrome with a differential diagnosis of Puetz–Jegher's syndrome.
Orthopantomogram revealed multiple unerupted permanent impacted teeth and presence of large osteomas on the right and left body of mandible. Regions corresponding to 36, 37 and 46, 47 revealed well-defined ovoid radiopacities measuring 2 cm in diameter present over the body of the mandible, with density same as that of the cortical bone. Small radiopacities at the periapical region between 55 and 16 were also seen [Figure 3]. Mandibular occlusal radiograph showed a radiodense structure corresponding to 46, 47, 48 region, suggestive of osteoma arising from cortical bone [Figure 4]. Radiograph of long bones showed small internal osteomas in both the arms of the patient [Figure 5]. Colonoscopy revealed multiple small polyps on entire colon, rectum and cecum, though normal ileocecal junction with no evidence of malignancy [Figure 6] was seen. High resolution ultrasonography of the neck showed that both lobes of thyroid glands had normal morphology and echo texture. Fundoscopy showed mild dysplastic optic nerve head and no pigmentary retinopathy. Incisional biopsy of all swelling was done and histopathologic report showed epithelium of stratified squamous origin; epithelium had a granular layer and was filled with keratinous material suggestive of epidermal inclusion cyst and was diagnosed as granulomatous reaction to ruptured cyst.
|Figure 3: Orthopantomogram showing osteomas corresponding to 36, 37 and 46, 47 region and multiple impacted teeth|
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|Figure 4: Mandibular occlusal radiograph reveals osteoma corresponding to 46, 47, 48 region|
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|Figure 5: Small internal osteomas in long bones of both the arms of patient|
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Final diagnosis was made on the basis of the presence of multiple intestinal polyposis, multiple osteomas, multiple impacted permanent teeth and multiple epidermal inclusion cyst as Gardner's syndrome. Patient was explained the surgical correction of epidermal inclusion cyst and osteomas on the body of mandible and replacement of missing teeth. She was also warned about the potential of 100% malignant transformation of polyps of the colon, rectum, and caecum. However, because of economic constraints, patient did not go for the surgery of removal of polyps. Patient was advised follow up every 6 months and was advised to undergo colonoscopy every 9 months to observe for malignant changes in polyps. In the follow-up visits, the patient was found to be stable with findings consistent with the previous visit. However, the patient was advised to undergo surgeries for which the patient refused probably being asymptomatic for the same.
| Discussion|| |
Gardner's syndrome is a hereditary autosomal dominant disorder with complete penetrance and variable expression. As early as 1912, Devic and Bussy showed cyst of the scalp, multiple lipomas, osteomas of mandible and multiple intestinal polyposis in a woman who died of intestinal cancer. In 1943, Fitzgerald reported a patient with soft tissue desmoids tumors, bony exostoses, scoliosis, osteomas, and multiple polyps of bowels. In 1950, Stephens and Gardner described malignant potential of familial polyposis. Gardner and Richards in 1953 found soft tissue growth and coined the term Gardner's syndrome. Fader in 1962 found multiple impacted supernumerary and permanent teeth in maxilla and mandible. Epidermoid cyst occurs in 45–60% of the cases; common sites are the face and back. In cases of Gardener's syndrome, cysts are present on the arms and legs. In our case, cysts were present on the face, back, knee, axilla, and left thigh.
Amato and Small in 1970 showed simultaneous presence of unerupted teeth and odontomes with osteomas. Osteomas appear in the first decade of life as a simple cortical thickening or discrete protuberant mass, with ramus being the most affected. Association between localized radiopacities on mandibular orthopantomogram and familial adenomatous polyposis (FAP) was shown by Utsunomiya and Nakamura in 1975. Wolf et al.in 1986 showed that all FAP patients with osteomas show exostoses and endostoses. These lesions are typically located on the skull and mandible but may be seen in other bones as well. They may be endosteal or exosteal and demonstrate sclerosis and deformity without soft-tissue involvement.
Delamarre et al. reported multicentric thyroid papillary carcinomas present in two cases of Gardener's syndrome, emphasizing screening of glands in these patients; although in our case thyroid function tests were normal. Bilkay et al. in 2004 reported a case of Gardner syndrome that was operated on because of the mandibular osteoma. Traboulsi in 2005 reported a case of pigmented ocular fundus lesions that resembled congenital hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome. In our case, mild dysplasia of optic nerve head was found.
Siblings of patients with Gardner's syndrome have a 50% chance of having affected with polyps of the intestine. Unlike the hamartomatous polyps of Puetz–Jegher's syndrome, adenomatous polyps have a chance of 100% malignant transformation into adenocarcinoma. The colorectal polyps of Gardner's syndrome have 100% potential of becoming malignant. Bodmer and Bailey showed that the FAP gene is located on chromosome 5, most probably near bands 5q21–q22 referred to as the adenomatous polyposis locus. Deleted in Colorectal Carcinoma, also known as DCC, is a protein which in humans is encoded by the DCC gene. DCC has long been implicated in colorectal cancer. The increase in loss of heterozygosity percentages of chromosome 18q21 have long suggested that DCC may be involved in the progression of benign adenomas to malignant carcinomas. Patients who have more than 30 polyps or have evidence of dysplasia following upper or lower gastrointestinal endoscopy should undergo total colectomy and ileorectal anastomosis. Endoscopic surveillance should be initiated by 15 years of age. Even after total colectomy and ileorectal anastomosis, the rectum should be endoscoped every six months. Today, life expectancy of patients has increased from 40 years due to advances in diagnosis and treatment.
Differential diagnosis of Gardner's syndrome includes Peutz–Jeghers syndrome, juvenile polyposis, multiple hamartoma syndrome, basal-cell nevus syndrome, and Cronkite-Canada syndrome. Though all have gastrointestinal polyposis, the lack of the presence of osteomas, epidermal inclusion cyst, and multiple impacted permanent teeth distinguishes them from Gardener's syndrome.
| Conclusion|| |
A dentist may be the first person in diagnosing the condition based on orofacial manifestation. Early recognition of the disease and subjecting the patient for colonoscopy examination carries a lot of significance. The major significance of this condition lies in multiple intestinal polyposis due to high propensity of these polyps to undergo malignant changes. It is important to be alert in diagnosing this condition, since early detection can lead to a better prognosis owing to the high rate of malignant potential.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]