Gardener syndrome: A rare case report. Dentistry 2014, 4:5

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口腔病理科 On-Line KMU Student Bulletin

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原文題目(出處)： Gardener syndrome: A rare case report. Dentistry 2014, 4:5 原文作者姓名： Arora M, Deora SS, Arora P, Saluja

通訊作者學校： SGT Dental College and Hospital, Gurgaon, India 報告者姓名(組別)：陳育苹 (Intern A 組)

報告日期： 103.8.12 內文：

Introduction

1. First described in 1951, Gardner's syndrome is a fairly rare condition sharing similarity with polyposis(息肉) coli

2. Gardner syndrome (GS) is a group of diseases (1) Familial adenomatous polyposis：

A. presence of large numbers of adenomatous polyps(20 decades) in the colon with a marked tendency to malignant transformation(40 decades) B. APC (Adenomatous Polyposis Coli) gene, located on chromosome 5

( 30% of individuals with FAC have a new dominant mutation)

C. Early diagnosis in at-risk individuals is usually performed by colonoscopy for detection of intestinal polyposis

(2) osteoma：

A. is necessary for the diagnosis of Gardner syndrome B. appears in：mandible, skull, long bone, paranasal sinus

C. Osteomas usually precede the intestinal polyposis by often as much as 10 years

(3) ocular lesions (90%)

(4) several dental abnormalities A. odontoma

B. supernumerary teeth C. impacted teeth

(5) abdominal desmoid tumors(10% in all,3 times more frequent in female) (6) epidermoid cyst of skin

→FAC with osteomas and benign tumors of the soft tissues is referred to as Gardner’s syndrome

3. Prevalence：varies from 1: 8,300 to 1: 16,000 live births in varying literatures (不分種族)

4. Early identification and surgical intervention of the disease are important to prolong the life of the patient

Case report

A 64 year old patient

1. C.C.： Swelling on the right lower part of face for past 6 years and in front of right ear region for past 3 months

2. History：

Swelling had gradually increased from small in size to attain the present size.

The swelling was painless upon palpation and not difficulty in mouth opening.

Patient also complained of another swelling in right temple region 請看下方 A 圖

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3. Intra Oral Examination：

Revealed two oval well circumscribed swellings measuring approximately 2.5 x 2.5cms and approximately 1.5 x 1.5 cms, seen on the buccal aspect of 46, 47 and 35, 36 with obliteration of the buccal sulcus. Overlying mucosa was normal in color and texture 請看上方 B 圖

4. X-ray findinds：

Pano

There is three well defined dense radio- opaque masses at right condyle region, right body of the mandible and in the region of lower border of the mandible on left side, measuring approximately 2 x 1.5 cms, 2.5 x 2 cms, and 0.3 x 0.3 cms respectively (Figure 2)

Water’s view, obtained to inspect other facial regions, revealed a radio-opaque mass in the left frontal sinus measuring approximately 0.2 x 0.2 cms (Figure 3)

5. Colonoscopy showed sessile polyps in the rectum and descending colon (Figure 4a and 4b). Biopsy revealed benign growths and no features of malignancy

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Discussion

1. Familial adenomatous polyposis (FAP) is an autosomal dominant colon cancer syndrome characterized by the presence of polyps in the colon and rectum

2. Gardner syndrome (GS) is a variant of FAP showing extracolonic manifestations such as osteomas, dental anomalies, epidermoid cysts and congenital hypertrophy of the retinal pigmented epithelium

3. The intestinal polyps carry as high as 100% potential of malignant change, and early diagnosis is therefore essential

→Several of these extra-colonic manifestations occur in the oral and maxillofacial region precede the colonic polyps and may be discovered during routine dental examination

4. Dental abnormalities：

(1) Tooth extraction is likely difficult A. thickening of interdental cortical bone B. extensive hypercementosis

(2) multiple impacted permanent teeth, supernumerary teeth and root anomalies (3) Odontomas and cementomas are also frequent

→as seen in our case at mandible regions and also in frontal sinus 5. Skeletal abnormalities

(1) Osteomas：

A. slow, continuous growth, and occur most frequently in the mandible, the outer cortex of the skull and the paranasal sinuses

B. peripheral exostoses are detectable only radiographically C. two type radiography

localized radiopaque lesion with a sharp border a large and diffuse radiopaque cotton-wool-like area widespread radiopaque lesion (in either jaw)

(2) mandible angle→facial deformity

→as seen in our case localized radiopaque lesion with a sharp border 6. The limitation mouth opening caused by

(1) osteoma of the condyle

(2) maxilla in close proximity to the ascending ramus, the external body of the mandible, the coronoid process, and the inferior border of zygomatic arch

→no seen in our case 7. Epidermoid cysts

(1) precede the intestinal polyposis (2) multiple and asymptomatic (3) limbs, face, and scalp

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→no seen in our case

8. Congenital hypertrophy of the retinal-pigmented epithelium (CHRPE) is reported in 80% of patients with GS and occurs early after birth so it may represent the first detected sign of the syndrome

→no mention in our case 9. Desmoid tumours

(1) histologically benign

(2) may behave aggressively and can cause death

→no found in our case 10. neoplasms：

hepatocellular carcinoma, desmoid tumor, fibromas, lipomas, leiomyomas, neurofibromata, and pigmented skin lesions

→no found in our case

11. In addition, several studies have reported an association between GS and endocrine disorders like Cushing's syndrome, thyroid gland nodules, craniopharyngioma, and thyroid cancer

12. Prophylactic colectomy is usually recommended. (良性時)

13. Removal of jaw osteomas and epidermoid cysts for cosmetic reasons sometimes may be indicated, but the long term prognosis depends on the behavior of the bowl adenocarcinomas (惡性變化時)

1 題目

1 Gardner syndrome 的 clinical finding 下列何者不屬之?

(A) Supernumerary teeth (B) Colonic polyps (C) Oral ulcer

(D) Osteoma over mandible angle

答案(C) 出處：Oral and Maxillofacial PATHOLOGY,3rd edition , Neville, et al P.651

2 題目

2 Gardner syndrome 的 osteoma 可以在以下哪些部位發現?

(A) Long bone (B) Mandible (C) Maxillary sinus (D) Skull bone

答案(A) 出處：Oral and Maxillofacial PATHOLOGY,3rd edition , Neville, et al P.651