Cancer Investigation, 26:975–976, 2008ISSN: 0735-7907 print / 1532-4192 onlineCopyright c© Informa Healthcare USA, Inc.DOI: 10.1080/07357900802039979

ORIGINAL ARTICLEClinical Translational Therapeutics

Gorlin Syndrome with Ameloblastoma: A Case Reportand Review of Literature

Taufik Dalati1 and Hui Zhou2

Departments of Oral & Maxillofacial Surgery,1 and Pathology, 2University of Bonn, Germany

ABSTRACT

A 32-year-old female patient with a history of surgical treatment of cutaneous basal cellcarcinomas and recurrent keratocystic odontogenic tumours presented with a painless swellingin the vestibular area of the maxillary premolar region. The lesion was excised, and pathologicalexamination established the diagnosis of ameloblastoma. A review of literature about Gorlinsyndrome with ameloblastoma is presented.

INTRODUCTION

Gorlin syndrome is a rare autosomal dominant disorder witha prevalence of one per 60, 000 live births (1). This syndrome isrelated to mutation in the human homologue of the DrosophilaSegment Polarity gene patched, a tumour suppressor gene (1). Itis characterized by congenital malformations and predispositionto malignancies (1). Diagnosis of Gorlin syndrome is based onthe finding of the following criteria: multiple basal cell carcino-mas, keratocystic odontogenic tumours of the jaw, palmer andplanter pits, bilameller calcification of the falx cerebri, bifid ribsand other developmental skeletal anomalies (1). The associationbetween Gorlin syndrome and ameloblastoma is extremely rare(2), with only three cases reported in the literature to date (2–4).

CASE REPORT

A 32-year-old woman with Gorlin syndrome presented witha small painless swelling in the maxilla of one month duration.There was a past history of flat foot (surgically corrected), ex-cision of multiple recurrent keratocystic odontogenic tumors ofthe jaw and basal cell carcinoma on the right hearline of the fore-head. Physical examination revealed a short stature with a heightof 156 cm, a scar at the right hairline of the prominent forehead,

Keywords: Gorlin Syndrome, Ameloblastoma, Keratocysticodontogenic tumorCorrespondence to:Taufik Dalati D.M.D, DDS, FAUniversity of DamascusP.O. Box: 31492, Damascus, Syria.email: taufikdalati@gmx.net

progenism, webbing of the hands and feet, palmar pits, plantarkeratosis, syndactyly of the 2nd and 3rd toes in both sides, dys-plastic nails, scoliosis, and splayed ribs. Teeth on the left maxillawere intact except for the left maxillary second premolar, whichwas congenitally absent. Oral examination showed a painlessswelling in the vestibular area of the left maxillary premolarsregion. Panoramic radiography showed opacity of the left andright side of the maxillary sinus. Computed tomograghy scanrevealed mucosal thickening of the left maxillary sinus withoutbony lysis. Perforation of the buccal and nasal plates of the rightmaxillary sinus was noticed (Fig. 1a,b). The cysts in the maxillawere enucleated (Fig. 1c), and histological examination showedkeratocystic odontogenic tumour. The cyst was composed oflining squamous epithelium resting on a basement membrane.Typical nests of ameloblastoma were also seen (Fig.1d, e, f). Theameloblastic epithelium was composed of palisaded columnarcells that exhibit no reversed polarity and surrounded looselyarranged stellate cells (Fig. 1e). Follow up showed no signs ofrecurrence one year after surgery.

DISCUSSION

Ameloblastoma is uncommon and locally invasive neoplasmof odontogenic origin. It occurs in the third decade without agender predilection. Eighty percent of ameloblastoma involvethe mandible, especially the ramus and the molar region (2, 5).In contrast to keratocystic odontogenic tumors, ameloblastomais rarely seen in the jaw in association with Gorlin syndromewith only three cases reported in the literature to date (2). Inthese cases, Gorlin syndrome with ameloblastoma was lesscommon in males (2), with age range of 14–57 years. Thetumors had a slight predilection to maxilla (three cases in

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Figure 1. (A, B) Axial and coronal CT scan, respectively, shows a mass occupying the right maxillary sinus with perforation of the buccaland nasal plates. Note the thickening of the left sinus mucosa. (C) Intraoperative photograph in which the right maxillary sinus can be clearlyvisualized. (D) Photomicrograph showing keratocyst lined by squamous epithelium, surrounded by focal lymphocyte infiltrate. Ameloblasticnests are seen in the lower left corner. (Hematoxylin & Eosin × 100). (E) Ameloblastic proliferations are composed of columnar basal cells inpalisading arrangement with little pink cytoplasm, hyperchromatic nuclei polarized away from basement membrane; suprabasal cells looselytextured and noncohesive, resembling stellate reticulum embedded in fibrous connective tissue. (Hematoxylin & Eosin × 400). (F) Keratocystcomposed of mildly verrucous, 6–10 cell thick, keratinizing, stratified squamous epithelium; prominent palisading basal cell layer, focally inflamedfibrous connective wall (lymphocytes and histiocytes) separated from epithelium; orthoparakeratotic materials in the center (anuclear and nuclearkeratin), and poorly organized granular layer. (Hematoxylin & Eosin × 400).

maxilla versus one case in mandible) (2). Three cases wereintraosseous ameloblastoma whereas the forth was peripheralameloblastoma of maxillary gingiva (4).

Successful treatment of keratocystic odontogenic tumoursof the jaw and ameloblastoma requires complete surgical ex-cision with safety margins or bone curettage in order to avoidrecurrence (5). Proper evaluation of the patient with keratocys-tic odontogenic tumors of the jaw, especially when multiple,is critical to exclude the presence of Gorlin syndrome. Annualpanoramic radiographs starting from the age of 8 years to theage of 40 years is also recommended. As Gorlin syndrome isan inherited disorder with variable expression, it is important toperform genetic counselling and evaluation of other members ofthe family of affected patients (1, 2).

REFERENCES1. Reisner, K.R.; Riva, R.D.; Cobb, R.J.; Magidson, J.G.; Goldman,

H.S.; Sordill, W.C. Treating nevoid basal cell carcinoma syndrome.Journal of the American Dental Association 1994, 125, 1007–1011.

2. Schultz, S.M.; Twickler, D.M.; Wheeler, D.E.; Hogan, T.D. Ameloblas-toma associated with basal cell nevus (Gorlin) syndrome: CT find-ings. J Comput Assist Tomogr 1987, 11, 901–904.

3. Jensen, M.F.; Roser, S.M. Gorlin’s syndrome with ameloblastoma.Oral Surg Oral Med Oral Pathol 1978, 45, 325–326.

4. Jeanmougin, M.; Zeller, J.; Wechsler. J.; Revuz, J.; Touraine, R.Basal cell nevus syndrome and ameloblastoma. Ann DermatolVenereol 1979, 106, 691–693.

5. Meiselman, F. Surgical management of the odontogenic kerato-cyst: conservative approach. J Oral Maxillofac Surg 1994, 52, 960–963.

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