GARDNER’S

SYNDROME
WHAT IS A SYNDROME?

“Association of several clinically

recognizable features, signs,
symptoms, phenomena or
characteristic that often occur
together.”
GARDNER’S SYNDROME?
 “A genetic disorder characterized
by the intestinal polyposis, multiple
osteomas, unerupted normal and
supernumery teeth, cysts and
fibromas of the skin.”
ETIOLOGY
 Inherited as an autosomal dominant
matter.

 That is, if one parent is affected,

each of their children, male or
female, are at 50% risk of inheriting
the gene for Gardner’s Syndrome.
 PATHOLOGY
 Caused by mutation in the APC gene located
in chromosome 5q21.

 This is the same gene as is mutant in Familial

adenomatous polyposis (FAP), a more
common disease that also predisposes to
colon cancer.

 Therefore, Gardner’s Syndrome and FAP are

believed to be variants of the same condition.
CLINICAL FEATURES
 A very rare syndrome
1 person per million population
 Men and women affected equally
 Average age at diagnosis is 22years
 Colonic polyps begin to form at puberty
 Osteoma formation precedes polyposis
 Progressionto malignancy is seen in
pts. Aged 30-50yrs [mean age 39]
 Oralfindings, includes multiple
impacted normal and supernumery
teeth, multiple jaw osteomas
particularly at the angle of the
mandible, frontal bones and
ethmoid sinuses & they may cause
facial deformities.
 Previouslyundiagnosed patients
are usually diagnosed by this
feature.
CLINICAL FEATURES
 Formation of multiple intestinal polyps
 They start developing at an early age,
usually by 16, and if not removed they
have high risk of transformation to
malignancy
 If the polyps become very large, they can
cause intestinal blockage, intussusception,
or bleeding
 Usually found when an endoscopy is being
done for other reasons or during surgery
for some unrelated problem.
CLINICAL FEATURES
 Presence of epidermoid cysts
 They occur at an early age (around
puberty) than the ordinary cysts and in
less common locations, such as the face,
scalp and the extremeties.
 In
50-65% of patients they tend to be
multiple
 Usually
asymptomatic, however, they
may be pruritic or inflammed, and they
may rupture.
CLINICAL FEATURES
 Other skin signs include:
 Fibromas
 Lipomas
 Leiomyomas
 Neurofibromas
 Pigmented skin lessions
 High risk of developing abnormalities
in the retina
CLINICAL FEATURES
 Other associated neoplasm in
Gardner’s Syndrome includes:
 CNS tumours, such as medulloblastoma,
glioblastoma, and craniopharyngioma
 Thyroid carcinoma (especially in female
patients)
 Osteosarcoma

 Chondrosarcoma

 Hepatoblastoma

 Liposarcoma
HISTOPATHOLOGY
 Histologically osteoma in the jaw
bones are of two types
1. Compact
2. Cancellous
 The compact osteoma consists of
a mass of dense lamellar bone
with few marrow spaces
 The cancellous type is made up of
interconnecting trabeculae
enclosing fatty or fibrous marrow.
HISTOPATHOLOGY

 Pathologic findings of the

epidermoid cysts of GS are similar
to findings in non-GS cysts,
however, many have
pilomatricomalike changes.
 Such as columns of shadow cells,
calcification and basophillic matrix
like cells in the cyst lining.
 Cancellous Osteoma

Compact osteoma
RADIOGRAPAHIC FEATURES
DIFFERENTIAL DIAGNOSIS

1. Familial adenomatous polyposis (FAP)

2. Gardner’s Syndrome

3. Curschmann-Steinert Myotonic
Dystrophy

4. Rubinstein-Taybi Syndrome
THE END
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