|Year : 2015 | Volume
| Issue : 1 | Page : 29-32
Vasavi Krishnamurthy, Sunanda Bhatnagar, SS Pagare
Department of Oral Medicine and Radiology, D.Y. Patil University, School of Dentistry, Navi Mumbai, Maharashtra, India
|Date of Web Publication||17-Jun-2015|
701, Gurusamridhi Heights, Plot-2, Sector-14, Sanpada, Navi Mumbai - 400 705, Maharashtra
Source of Support: None, Conflict of Interest: None
Gorlin-Goltz syndrome is an autosomal dominant disorder showing multiple organ involvement. The syndrome consists principally of nevoid basal cell carcinomas, keratocystic odontogenic tumors (KCOT), skeletal anomalies and intracranial calcifications. A case report of a 25-year-old female patient emphasizing its clinical and radiographic manifestations is presented in this article. Radiographs and computed tomography showed recurrent, multilocular and expansile lesions, which were examined histologically, confirming the diagnosis of KCOT. Skin lesions in the form of palmar pits and solitary pigmented nevi were seen. The sella turcica was bridged and the right fifth rib was bifid. The bilamellar falx cerebri calcification was confirmed on computed tomography of brain. The patient was treated and explained about the prognosis.
Keywords: Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, keratocystic odontogenic tumors
|How to cite this article:|
Krishnamurthy V, Bhatnagar S, Pagare S S. Gorlin-Goltz Syndrome. Indian J Oral Health Res 2015;1:29-32
| Introduction|| |
Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is syndrome of jaw cysts, basal cell tumors and skeletal anomalies polycystoma. The syndrome consists of multiple nevoid basal cell epitheliomas, jaw cysts and bifid ribs with its manifestations also affecting the central nervous, ophthalmic, endocrine and urogenital systems.  The incidence of the disorder is estimated to be 1 in 50,000 to 150,000 in general population. It appears in all ethnic groups but most often in whites. The male to female ratio is 1:0.62 for keratocystic odontogenic tumor (KCOT) not associated with the syndrome and 1:1.22 for KCOT associated with the syndrome, thus estimating that KCOT are more common in males but more females seem to have the syndrome.  The syndrome warrants early diagnosis, effective counseling and aggressive treatment at the earliest because of the high recurrence rate of KCOT and possible complications of pathologic fractures and neoplastic changes being associated with them. 
| Case Report|| |
A 25-year-old girl of western Indian origin, third child of non-consanguineous parents of normal stature presented with a 12-month long history of a slowly progressing bilateral facial swelling with severe facial disfigurement [Figure 1]. She gave history of dull pain, restricted mouth opening and yellowish-red colored discharge intermittently from the buccal mucosa on the left side. On further questioning, she gave a history of a similar swelling on the left side 12 years back, which was surgically treated. The medical, personal and family history revealed no positive findings. General physical examination revealed areas of hyperpigmentation on the left upper eyelid and dorsal surface of the first inter-phalangeal joints of all fingers with multiple palmar pits and a mole on the upper trunk. Maxillofacial examination revealed facial disfigurement, restricted mouth opening, and mild hypertelorism with the canthal index measuring 38.09 and euryopia. On intraoral examination, bilateral bony hard swellings in the ramus with buccal and lingual cortical expansion and egg shell crackling, high-arched palate and missing right mandibular canine were observed.
|Figure 1: Facial appearance of patient showed bilateral enlargement and ocular hypertelorism|
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Panoramic image revealed bilateral large expansile multi-locular lesions with scalloped, well-corticated margins involving the entire ramus with haziness in the internal structure. However, there was no displacement of teeth. The left angle of mandible showed features of previous surgery and a unilocular radiolucency was seen between roots of 44 and 45 [Figure 2]. CT axial sections showed large bilateral hypodense areas involving ramus and body of mandible, which are multilocular with scalloped margins, hyperdense septae and marked expansion of buccal and lingual surface of the ramus [Figure 3]. Incisional biopsy was taken and on microscopic examination, characteristic 6 to 8 basal cell layer thick stratified squamous epithelium thrown into corrugations giving picket fence appearance was seen, indicative of KCOT [Figure 4]. Patient was then further evaluated for other findings. PA chest radiograph showed bifid right fifth rib. Lateral cephalometric radiograph showed calcified diaphragma sellae. CT brain revealed extensive lamellar dural calcification [Figure 5]. Urogenital evaluation by USG pelvis revealed multiple nabothian cysts in cervix. Based on these investigations and the clinical correlation, the recognizable features of the Gorlin-Goltz syndrome seen in the patient were multiple KCOT, high-arched palate, mild hypertelorism, multiple palmar pits, solitary pigmented nevus, hyperpigmentation on dorsal surface of hands, calcified diaphragma sellae, bifid right fifth rib and calcifications of the falx cerebri. Based on clinical, radiographic and microscopic data, the hypothesis of KCOTs was confirmed and the diagnosis of Gorlin-Goltz syndrome was established.
|Figure 2: Panoramic examination suggesting the presence of multiple KCOTs in the mandible|
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|Figure 3: CT images showed hypodense areas in relation to the right and left mandibular ramus and body separated by a hyperdense septae|
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|Figure 4: Prominent palisaded basal cell layer with dark-staining nuclei and a corrugated surface with parakeratinization (H and E ×40)|
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The parents and two elder sisters were also screened for radiological and dermatological findings. They were found to be unaffected and therefore, a sporadic mutation was suspected to be the etiology. The patient received genetic counseling regarding possible future complications and was explained for the need of a long-term follow-up. A decompression surgery was performed on the mandible with arch bar stabilization of both maxilla and mandible along with instillation of carnoy's fluid as a fixative agent for shrinkage of the lining epithelium. The patient was advised for complete removal of the cyst on a later day.
Postoperative panoramic image after 1 year showed bone deposition in the ramus area indicating a successful treatment of the case [Figure 6].
|Figure 6: Panoramic image after 1 year follow up showing new bone formation in the ramus area|
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| Discussion and Conclusion|| |
Gorlin syndrome is an autosomal dominant disorder inherited with complete penetrance and variable expressivity with the defective gene called Patched (PTCH), a tumor suppressor gene essential for development during embryogenesis and cell signaling in adults, identified on chromosomal location 9g22.3 - g31. ,,, However, mutations in others genes such as Patched 2 (PTCH2), Smoothened (SMO) and Sonic hedgehog (SHH) have been reported in isolated cases of basal cell carcinoma and medulloblastoma.  According to Manfredi et al.  the diagnosis of Gorlin-Goltz syndrome can be confirmed when there are identified two major criteria or one major and two minor criteria.
The major criterias include
More than two basal cell carcinoma or one basal cell carcinoma appearing before the age of 20 years or more than ten basal cell nevi.
- KCOT confirmed by histology
- Palmar or plantar pits more than three in number
- Bilaminar calcification of the falx cerebri
- Positive family history of nevoid basal cell carcinoma syndrome.
Minor criteria include
- Congenital skeletal anomalies: bifid, fused, splayed or missing rib or bifid, wedged or fused vertebra
- Calcified diaphragma sellae
- Occipital - frontal circumference more than 60 cm
- Cardiac or ovarian fibromas
- Congenital malformation such as high-arched palate or cleft lip or palate, ocular hypertelorism, coloboma, cataract or prominent supra - orbital ridges.
The present case report showed a young girl presenting, among others, some of these features, such as multiple KCOTs in the mandible, high-arched palate, rib anomalies, calcification of the falx cerebri, calcified diaphragma sellae, ocular hypertelorism and multiple palmar pits, which confirmed the diagnosis of NBCCS or Gorlin-Goltz syndrome. The management of KCOT comprises enucleation or curettage of the adjacent bone. Large, destructive cases require segmental resection of the jaw bone with immediate or delayed reconstruction.  Chemical cauterization as an adjunctive technique is useful to prevent recurrence by fixing the daughter cysts or remnants of epithelial lining that cannot be removed by enucleation with the use of carnoy's solution. It has been reported that the presence of daughter cysts is related to the recurrence of KCOT.  This could be one of the possible reasons for recurrence of KCOT as the patient was surgically treated before in the case reported here. Histopathological examination of the removed tumors should be performed to provide definitive diagnosis.  In this case, the microscopic analysis confirmed the diagnosis of KCOT and indicated the need for monitoring the disease. Long follow-up periods are suggested for this tumor.  In order to minimize secondary morbidities after the treatment, patients with KCOT should be observed carefully by radiographic imaging particularly during the first year.  In summary, Gorlin-Goltz syndrome is a dominant autosomal genetic process, which is of particular interest to the oral and maxillofacial health experts. Proper evaluation and characterization of the clinical features are of the utmost importance for the correct diagnosis and treatment of affected patients. In order to be able to establish early diagnosis of NBCCS, specialists should carry out detailed clinical and imaging examinations in early ages of life. Physicians and dentists must know the features of the syndrome well.
| References|| |
LO Muzio L, Nocini P, Bucci P, Pannone G. Consolo U, Procaccini M. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent 1999;130:669-74.
Woolgar JA, Rippin JW, Browne RM. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol 1987;64:727-30.
Stoelinga PJ, Peters JH, van de Staak WJ, Cohen MM Jr. Some new findings in the basal cell nevus syndrome. J Oral Surg Oral Med Oral Pathol 1973;36:686-92.
Cohen MM Jr. Nevoid basal cell carcinoma syndrome: Molecular biology and new hypotheses. Int J Oral Maxillofac Surg 1999;28:216-23.
Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: A review of the literature. Int J Oral Maxillofac Surg 2004;33:117-24.
Rai S, Gauba k. Jaw cyst-basal cell nevus-bifid rib syndrome: A case report. J Indian Soc Pedod Prev Dent 2007;25:137-9.
Voorsmit RA, Stoelinga PJ, Van Haelst UJ. The management of keratocysts. J Maxillofac Surg 1981;9:228-36.
Ortega García de Amezaga A, García Arregui O, Zepeda Nuño S, Acha Sagredo A, Aguirre Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008;13:E338-43.
González-Alva P, Tanaka A, Oku Y, Yoshizawa D, Itoh S, Sakashita H, et al.
Keratocystic odontogenic tumor: A retrospective study of 183 cases. J Oral Sci 2008;50:205-12.
Kuroyanagi N, Sakuma H, Miyabe S, Machida J, Kaetsu A, Yokoi M, et al.
Prognostic factors for keratocystic odontogenic tumor (odontogenic keratocyst): Analysis of clinico-pathologic and immunohistochemical findings in cysts treated by enucleation. J Oral Pathol Med 2009;38:386-92.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]