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原文題目(出處): Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review Spec Care Dentist 2015;35: 43-50

原文作者姓名: Viviane Santos da Silva Pierro, Marcello Roter Marins, Renata Cabral Borges de Oliveira, Wladimir Cortezzi, Maria Elisa Janini, Lucianne Cople Maia

通訊作者學校: Department of Pediatric Dentistry , School of Dentistry, Universidade Salgado de Oliveira (UNIVERSO) , Rio de Janeiro , Brazil

報告者姓名(組別): 陳穎萱 (Intern I 組)

報告日期: 104/04/06


Introduction The disease:

-1960, Gorlin and Goltz : 3 parameter (the classical triad) 1. multiple nevoid basal-cell epitheliomas

2. keratocysts in the jaws 3. bifid ribs

- terminology:

1. multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib syndrome 2. Gorlin-Goltz syndrome (GGS)

3. nevoid basal cell carcinoma syndrome 4. basal-cell nevus syndrome

- other characteristics (besides the classical triad):

1. macrocephaly, eyes widely separated, broad nasal root, Mild mandibular prognathism

2. palmar and plantar pits

3. calcification of the falx cerebri 4. medulloblastoma

5. ovarian fibroma

(more than 100 minor features have been described) - diagnosis

1. combination of clinical and histological features 2. heavily dependent on family history

3.criteria (1993, Evans et al. & modified by Kimonis et al.)


- inheritance pattern 1. autosomal dominant 2. PTCH1 gene


1. varies according to the country 2. 1 / 60,000

3. men and women equally affected

4. all ethnic groups, but the white are mostly reported 5. black cases:28 cases(1960~1994), 22 cases(1994~2012)


-Ethnic: Afro-Brazilian

-First visit: Pediatric Dental Clinic at the Federal University of Rio de Janeiro, Brazil -C.C.: painless swelling of the left mandible

-Previous medical history: surgery for cryptorchidism -Intraoral examination:

1. mixed dentition without carious lesions

2. expansion of the alveolar ridge near the left deciduous mandibular second molar -Panoramic findings:

1. A well-defined unilocular radiolucent lesion located in the left mandible associated with unerupted permanent canine and premolars.

2. left permanent canine and first premolar were displaced inferiorly near to the basal mandibular region

3. Root resorption of the left deciduous first and second molars associated with the lesion

4. Other four unilocular lesions were detected bilaterally associated with unerupted permanent canines in the maxilla and to unerupted permanent second molars in the mandible

5. On the left side, the mandibular lesion involving the permanent second molar extended to the left ascending ramus

Imaging findings: suggestive of odontogenic keratocysts

Confirmed after surgical decompression and histopathological examination of the cysts’ wall

Histopathological finding: (four specimens)

1. wall of regular thickness composed of fibrous tissue 2. free of inflammation

3. lined by a uniformly thin parakeratinized stratified squamous epithelium

4. The epithelial lining showed absence of rete pegs as well as pallisading of the nuclei of the basal cells


Clinical examination of the skin:

multiple cutaneous nevi in the left periorbital and auricular regions

multiple palmar and plantar pits

histopathological, intra-, and extraoral findings led to the clinical diagnosis of GGS Chest radiograph:

1. bifid aspect of the third, fifth, and sixth ribs on the left side 2. fusion anomaly of the right first and third ribs

3. spina bifida occulta was noted in T 1 and T2

posteroanterior skull radiograph : incipient calcification of the falx cerebri


-These skeletal anomalies confirmed the diagnosis of GGS, which was, therefore, also investigated in his first degree relatives.

-the patient: keep f/u Case 2—Mother Age: 39

PMD: previous ovarian surgery for cysts’ removal Clinical examination:

1. large head circumference 2. prognathism

3. hypertelorism 4. scoliosis(脊柱側彎)

5. polydactyly(多指) of the right hand 6. palmar and plantar pits

Panoramic film finding:

1. two well-defined unilocular expansile osteolytic lesions in the right and left ascending rami of the mandible

2. On the left side, the lesion was associated with an unerupted permanent molar Histological examination:

confirmed the hypothesis of odontogenic keratocysts with the presence of satellite cysts


posteroanterior chest radiograph : 1.confirmed the scoliosis(脊柱側彎)

2. bifid aspect of the third ribs on the right and left sides 3. spina bifida occulta in T 1 and T 2

posteroanterior skull radiograph : calcification of the falx cerebri

All the above described features characterized the presence of GGS in the mother too, who did not know about the syndrome until our clinical examination.

 she also started regular follow-up after cysts’ removal Case 3—Sister

Age: 15

PMD: unremarkable

Clinical examination: plantar pits Panoramic radiograph:

1. two unilocular cystic lesions extended from the retromolar space bilaterally to the right and left ascending rami of the mandible.

2. Both lesions were associated with unerupted permanent third molars, which were displaced posteriorly

Incisional biopsy of the oral lesions was performed and histopathological examination confirmed the odontogenic keratocysts.


1. diagnosis: table 1, 2 major / 1 major and 2 minor diagnostic criteria Case 1: 5 major, 1 minor

Case 2: 5 major, 6 minor Case 3: 3 major, 0 minor 2. Black populations :

-no advantage against developing or inheriting GGS(although a high concentration of melanocytes has been associated with a decreased chance of basocellular carcinoma (BCC) proliferation)

- lack of BCC formation may further delay diagnosis of early GGS -Therefore,GGS seems to be unusual in black persons


3. importance of family investigation

4.the need for molecular genetic testing(PTCH) (our cases no need) 5. Odontogenic keratocyst :

-representative signs of GGS in the first and the second decades of life

-asymptomatic but may cause swelling, loosening or displacement of erupted or developing teeth

-can recur and can be locally invasive causing bone destruction of the jaw -origin: from dental lamina or its remnants

-common site: retromolar region in place of the third molar

-histologic appearance : thin cyst wall, palisaded basal layer that often separates from the surrounding connective tissue, without inflammatory infiltration ,a variable number of microcysts and epithelial islets

- Comparisons between syndromic and nonsyndromic keratocysts:

1. keratocysts in GGS : multiple , increased number of satellite cysts and solid islands of epithelial proliferation

2. when compared to solitary keratocysts, GGS keratocysts are more frequently parakeratinized

-other defect of GGS:( pits of the palms and soles, spine and rib abnormalities, ectopic calcifications, and macrocephaly)

1. caused by the lack of a partial or complete absence of the corneal stratum

2. usually get developed in the second decade of life, increasing in the number with the age

3. useful diagnostic trait of GGS as pointed out by Kimonis et al - falx calcification:

1. age of onset remains uncertain, but rare in children 2. develops with increasing age

3. case 1: showed an incipient calcification of the falx cerebri Conclusion

1. odontogenic keratocysts in children should alert dental clinicians to look for signs and symptoms that may suggest GGS

2. once detected, close relatives should be carefully examined for the Syndrome even if they belong to an ethnic group in which this diagnosis is unusual

題號 題目

1 戈林症候群(Gorlin syndrome)與下列何種惡性腫瘤最有關

(A) 分化良好之口腔鱗狀細胞癌

(B) 疣狀癌

(C) 淋巴瘤

(D) 基底細胞癌(basal cell carcinoma)

答案(D) 出處:牙醫國考 101 年基礎 1

題號 題目

2 以下何者最不可能是 Gorlin syndrome 的特徵?



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A well-defined, scallope-shaped, unilocular radiolucency without corticated margin over mandibular symphysis, extending from the medial side of.. tooth 34 to the mesial side of

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y There is a mixed radiolucent and radiopaque lesion with well defined sclerotic margin and it looks like with well-defined sclerotic margin, and it looks like cotton wood2.

 Pano: There is a well-defined, not corticated, multilocular, scalloped radiolucency over left mandible body and symphysis, extending from the apex of tooth 42 to the distal side

Unilocular RL with corticated margin. Effects Impacted 48 with root resorption. Cortical bone expansion. Usually involve impacted mandibular 3 rd molar. Cyst usually attach the

There is a well-defined, unilocular radiolucency with corticated margin (lower margin of the lesion) over R’t mandibular body & ramus, extending from distal side of tooth 46 to

• There is a solitary well-defined corticated unilocular radiolucent shadows located in left mandibular body, measured about 2.0 x 3.0 cm in maximum diameter, extending from

There is a well-defined unilocular ovoid shaped mixed radiolucent-radiopaque lesion, with a corticated margin over the lower left canine-premolar area, extending from CEJ of 34

posterior maxilla, extending from the distal side of tooth 24 to the left maxillary tuberosity, and from 2/3 height of left maxillary sinus to the left maxillary.. alveolar crest

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The left mandibular lesion was thought to be a traumatic bone cyst, radicular cyst, keratocyst, or unicystic ameloblastoma.. Endodontic treat- ment was completed before the

Fig. 3 MR images of the mandible. a T1-weighted MR image showing a decrease in the signal intensity of the bone marrow in the left lower premolar and molar regions, except for

The panoramic radiograph showed a radiolucent multilocular image in the left mandibular molar region, where teeth #17 and #18 had undergone endodontic treatment, and a fracture in

distension of the mandibular body, ranging from the area of the second left premolar to the second right molar... a large multicystic lesion exhibiting sharply defined borders

In 1942, Stafne described for the first time 35 asymptomatic, radiolucent cavities, unilaterally located in the posterior region of the mandible, between the mandibular angle and

In the present case, we initially did not consider the lesion to be malignant. On radiographic examination, remarkable bone destruction and swelling of the left side of the

Panoramic radiograph obtained before biopsy, showing an osteolytic lesion in relation to periapex of the first upper left molar and projecting toward the floor of the maxillary

Periapical radiographs of the presenting case of intraosseous MPNST showed a unilocular periapical lesion with a defined border and external dental resorption in the lateral region

Figure 2: Panoramic radiograph view showed a well-defined radiopacity located at the left posterior ramus of the mandible region.. Figure 3: Paranasal sinus view showed a