JIAOMR

Gardner’s Syndrome—The Importance of Early Diagnosis: A Case Report and Review of Literature
CASE REPORT

Gardner’s Syndrome—The Importance of Early

Diagnosis: A Case Report and Review of Literature
1
Arati Chaudhary, 2PV Wanzari, 1Tushar Phulambrikar, 3Vanaja Reddy, 3Ashish Warhekar, 3Prashanthi
Reddy, 4Shivakshi Khattri
1
Professor, Department of Oral Medicine and Radiology, Modern Dental College and Research Center, Indore
Madhya Pradesh, India
2
Professor and Head, Department of Oral Medicine and Radiology, Modern Dental College and Research Center
Indore, Madhya Pradesh, India
3
Assistant Professor, Department of Oral Medicine and Radiology, Modern Dental College and Research Center
Indore, Madhya Pradesh, India
4
Postgraduate Student, Department of Oral Medicine and Radiology, Modern Dental College and Research Center, Indore
Madhya Pradesh, India
Correspondence: Arati Chaudhary, Professor, Department of Oral Medicine and Radiology, Modern Dental College and
Research Center, Opposite Gandhi Nagar, Airport Road, Indore-453112, Madhya Pradesh, India, e-mail: aratigunjan@gmail.com

ABSTRACT
Gardner's syndrome (familial polyposis coli) is a genetic condition characterized by colonic polyps that carry a 100% risk of malignancy if
untreated. Early diagnosis, in which an astute and knowledgeable dentist can play an essential role, is therefore of paramount importance. The
presence of osteomas and multiple unerupted teeth provides the dentist with a major pointer to the possible presence of this disease, which may
be provisionally diagnosed on the detection of other obvious features, like the cutaneous lesions. This fact is clearly illustrated by the
accompanying case report of Gardner's syndrome in a middle aged female patient who presented with the typical dental manifestations of the
syndrome and timely detection of other manifestations halted the dreaded disease from further progression.
Keywords: Familial adenomatous polyposis (FAP), Epidermoid cyst, Desmoid tumor, Peripheral osteoma, Dental abnormalities, Colon carcinoma,
Gardner's syndrome.

INTRODUCTION
In 1953, Gardner described a syndrome consisting of hereditary
intestinal polyposis with osteomas and multiple cutaneous and
subcutaneous lesions.1 This syndrome has since been modified
by the addition of other features such as dental abnormalities,
abdominal desmoids tumors and a number of malignant tumors.
estimated to be between 1 in 12000 and 1 in 1400.3 The frequency
of FAP-Gardner syndrome has been estimated to be between 1
in 12,000 and 1 in 1,400 live births.3 The inheritance pattern is
autosomal dominant with complete penetrance. However,
approximately 20% of cases represent spontaneous mutations,
with no family history reported.5
We report a rare case of Gardner’s syndrome with sponta-
neous mutation diagnosed in Oral Medicine Department and
demonstrating the full spectrum of dental, colonic and
extracolonic manifestations.
CASE REPORT
A 33-year-old female patient reported to the Department of Oral
Medicine and Radiology, Modern Dental College and Research
Center, Indore, Central India with a chief complaint of a large
swelling along the border of the lower jaw on the left side (Fig. 1).
The patient was unable to recall precisely, when she first became
aware of the swelling but pointed out that she had been aware
of the slow but steady increase in the size of the swelling since
the past 6 to 7 years. There was no history of pain and the
patient was concerned about the large swelling for esthetic
reasons. There was no history of trauma, discharge or bleeding
from the affected area. Patient was comfortable in performing
the routine jaw functions inspite of the large size of the swelling.
Patient also gave a history of additional painless swellings on
the back, close to the spine (Fig. 2). The patient gave no history
of bowel disturbances, indigestion or constipation. There was
no history of weight loss.
Surgical history revealed that the patient had a tumor mass
resected in the right lower limb one and a half year ago. The
histopathologic report confirmed the excised lesion as
epidermoid cyst (Fig. 3). There was no other significant systemic
history recorded. Family history revealed that no other family
member had similar swellings or had been diagnosed of having
gastrointestinal problems or had died of cancer.
The patient was moderately built, afebrile and had normal
vital signs. Her abdomen was soft, nontender and non distended.
Further examination revealed a well-defined swelling of moderate
size in the right thoracic region that was soft in consistency
and fluctuant and was later confirmed to be a epidermoid cyst.
Two other swellings, on the sacral region and the lumbar region
were firm in consistency and nonfluctuant and were confirmed
to be fibromas.

Journal of Indian Academy of Oral Medicine and Radiology, July-September 2010;22(3):151-155 151
Arati Chaudhary et al
Fig. 1: Lateral view of the patient’s face showing the deformity due
to bony exostoses at the It. mandibular angle
Fig. 2: Photograph showing the multiple cutaneous lesions of the
back region
Fig. 3: Histopathologic picture of the characteristic sebaceous
cyst lining, excised from the ankle region
152
A
Figs 4A and B: Intraoral photograph of the arches showing retained
deciduous teeth, missing permanent teeth and bony exostoses
Extraoral examination revealed facial asymmetry due to a
large bony hard swelling along the lower border of the mandible
on the left side approximately 3 × 5 cm in diameter mimicking an
osteoma. Bony out—growths of similar nature on inspection
and palpation but of variable sizes were present on the forehead
region, in the right maxilla and anterior to the large swelling.
Lymph nodes were nonpalpable.
Intraoral examination revealed multiple retained deciduous
teeth (54, 55, 63, 73, 74, 75, 85), missing teeth (24, 25) and bony
exostoses in all four quadrants of the jaws mainly in the premolar
region (Figs 4A and B).
After careful history recording and clinical examination the
clinical suspicion of Gardner’s syndrome was raised and patient
was subjected to additional investigations like OPG, CT scan,
Genetic testing, endoscopy, colonoscopy and barium meal to
confirm the diagnosis. Laboratory investigations like CBC and
blood biochemistry were normal.
OPG revealed multiple dense, homogenous radiopacities
suggestive of compact osteomas present in the right sigmoid
notch region and in the left coronoid process region. A single
large osteoma having sharp borders was present attached to
the left lower border of the mandible. The jaw bones also revealed
a generalized diffuse radiodensity, a feature documented in the
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 Gardner’s Syndrome—The Importance of Early Diagnosis: A Case Report and Review of Literature

literature only once, 9 prior to this case. The panaromic

radiograph also showed multiple impacted supernumerary teeth,
unerupted permanent teeth, retained deciduous teeth and
compound odontomes (Fig. 5). The CT scan of PNS revealed
additional bony protruberances in the frontal, parietal and
temporal vaults (Fig. 6). The paranasal sinuses were clear.
Genetic testing revealed a mutation in the adenomatous
polyposis coli (APC) gene confirming the diagnosis of FAP.
On colonoscopy she was found to have numerous polyps
carpeting the entire colon and rectum which was consistent
with familial adenomatous polyposis (Figs 7A and B). Most of
the polyps measured just about a centimeter in diameter.
Histopathologic examination of the colonic polyps revealed A
adenomatous polyps with mild dysplasia (Figs 8A and B). An
upper endoscopy revealed normal findings.
A fundoscopic examination was performed showing the
typical hypertrophy of the pigmented layer of the retina.
The patient is presently under the care of a colorectal
surgeon and is listed for a restorative proctocolectomy with
ileal pouch anal anastomosis with mucosectomy. This procedure
is preferred because they attempt to eliminate all colon and
rectal mucosa, thereby assuring the lowest risk of developing
colorectal cancer.

DISCUSSION
B
In 1953, Gardner described a syndrome consisting of hereditary
intestinal polyposis with osteomas and multiple cutaneous and Figs 7A and B: Numerous small intestinal polyps
subcutaneous lesions.1 At one time, Gardner syndrome was captured on colonoscopy

Fig. 5: Orthopantomograph showing multiple osteomas, generalized

increased bone density, numerous impacted supernumerary teeth
and impacted permanent teeth

B
Fig. 6: CT view of PNS region revealing multiple osteomas in Figs 8A and B: High power view showing tubular adenomatous polyp
cranial vault, mandible and maxilla with eosinophilic or amphophilic spindle-shaped cells embedded within
moderate amount of collagen displaying initial cellular atypia

Journal of Indian Academy of Oral Medicine and Radiology, July-September 2010;22(3):151-155 153
Arati Chaudhary et al
thought to be a separate entity from familial adenomatous
polyposis (FAP). However, it is now accepted that it represents
one end of the spectrum of that disorder, and around 50% of
those with FAP have extracolonic manifestations, although these
are often subclinical. The frequency of FAP-Gardner syndrome
has been estimated to be between 1 in 12,000 and 1 in 1,400 live
births, affecting both genders equally, with a uniform worldwide
distribution.3,4 The average age at diagnosis is 34.5 years to 43
years.
The inheritance pattern is autosomal dominant with
complete penetrance. The FAP-Gardner syndrome gene has
been localized to a small region on the long arm of chromosome
5(5q 21-22), referred to as the adenomatous polyposis coli locus.4
However, approximately 20% of cases represent spontaneous
mutations, with no family history reported.6
Of the two types of hereditary polyposis diseases: adeno-
matous – which includes familial adenomatous polyposis (FAP)
and hamartomatous; Gardner’s syndrome is a variant of FAP
affecting 10% of FAP patients.7 They have a 100% potential for
malignant change, which usually occurs in the 20-40 years age
group.8 The polyps commonly develop at around the time of
puberty, and may occur in any part of the gastrointestinal tract,
although the colorectal region is invariably affected.
One among the mesodermal lesions includes skeletal
abnormalities, the most common of which are osteomas, an
essential component of Gardner’s syndrome. These benign
tumors are characterized by slow, continuous growth and most
frequently in the mandible, the outer cortex of the skull and the
paranasal sinuses. The angle of mandible is a particularly
diagnostic site. The masses are sometimes of considerable size,
and, nevertheless, may not give rise to a corresponding amount
of swelling due to the fact that a part of the tumor is submerged
in bone. They are almost always sessile and pedunculation is
unusual. 9 They may present either as an exostoses or
enostoses.10 Histologically, these osteomas are of compact or
‘ivory’ type comprising dense compact bone with few marrow
spaces and with only few osteons. 9,11 The radiographic
appearance of either type is a localized radiopaque lesion of
homogenous density with a sharp border.10 Another type of
lesion has been described with widespread radiopacity of the
jaw bones in a patient with familial adenomatous coli.12 These
bone tumors are known to occur at puberty and precede the
presentation of the polyps.7
Dental abnormalities are present in around 30% of patients
with Gardner’s syndrome, and may include supernumerary teeth,
compound odontomes, hypodontia and impacted or unerupted
teeth. The highest incidence of dental abnormalities is found in
patients with multiple osteomas. 10 The incidence of
supernumerary teeth is however not as high as seen in cleido-
cranial dysplasia.13
The most common ectodermal abnormalities found are
epidermoid cysts, frequently associated with lipomata, desmoid
154
tumors, fibromas, leiomyomas, neurofibromas or pigmented
skin.7 The multiple epidermoid cysts present in around 50-60%
of patients are uncommon prior to puberty and occur primarily
on the face, scalp and extremities. Their occurrence prior to
puberty should alert the physician to evaluate the colon and
the rectum for polyps.3 They have no malignant potential.7
Desmoid tumors may occur in the skin of anterior abdominal
wall or intra-abdominally. Overall, the incidence of desmoid
tumors in patients with FAP is 89%.14 They are usually slow
growing deep fibromatoses that are histologically benign and
have no metastatic potential. They are, however characterized
by aggressive infiltration of adjacent tissue, and are prone to
recurrence after surgical excision.
Other neoplasias strongly associated with Gardner’s
syndrome include papillary carcinoma of the thyroid, which
primarily affects female patients, tumors of the CNS such as
glioma and medulloblastoma and periampullary carcinoma of
the duodenum. Many others including adrenal adenoma and
adenocarcinoma, hepatocellular carcinoma, osteosarcoma,
chondrosarcoma and osteochondroma have also been
reported.4
Asymptomatic pigmented ocular fundic lesions are present
in more than 90% of patients with FAP or Gardner’s syndrome.4,8
It has been suggested that the presence of congenital
hypertrophy of the retinal pigment epithelium, if demonstrated
in relatives, is almost 100% predictive of FAP.4,15
CONCLUSION
The cases of Gardner’s syndrome reported in the past describe
only a few of the wide spectrum of manifestations of this rare
disorder. To the best of our knowledge, this is the first case of
Gardner’s syndrome with spontaneous mutation diagnosed in
Oral Medicine Department and demonstrating the full spectrum
of dental, colonic and extracolonic manifestations. Timely
detection of these manifestations halted the dreaded disease
from further progression.
ACKNOWLEDGMENT
The authors thank Dr Neeraj Jain, Gastroenterologist, CHL
Apollo Hospital and Dr Satish Pathak, General Pathologist,
Choithram Hospital and Research Center for relevant
contributions regarding the case.
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 Gardner’s Syndrome—The Importance of Early Diagnosis: A Case Report and Review of Literature

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