33J Contemp Med Sci | Vol. 2, No. 5, Winter 2016: 33–35 Research Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in patched (PTCH), a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. Gorlin-goltz syndrome (GGS) is characterised by the presence of multiple odontogenic keratocysts in the jaws, basal cell carcinomas, palmar and plantar pits and intracranial calcifications. Here, we present a case of familial GGS, characterised by multiple odontogenic keratocysts, broad nasal ridge, hypertelorism, enlarged head circumference and dermoid cysts. Keywords dermoid cyst, Gorlin-goltz syndrome, odontogenic cysts A Case Report of Gorlin-goltz Syndrome Shima Nafarzadeha*, Fatemeh Mozaffarib, Oveis Khakbazc Introduction Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant inherited disorder.1 This syndrome is characterised by mul- tiple odontogenic keratocysts, basal cell carcinomas of skin, palmar and plantar pits. GGS has a wide spectrum of neuro- logical, ocular, skeletal, genitourinary disorders.2 The dentist has the privilege of diagnosing the syndrome at first, as mul- tiple odontogenic keratocysts are the first manifestations of this syndrome.3 This article reports a case of a 59-year-old patient with GGS, emphasising its clinical and radiographic manifestations. Case Report A 59-year-old male patient admitted to the School of Dentistry, Babol University of Medical Sciences with a compliant of bilat- eral, painless swelling of lower jaw with paresthesia in left mental foramen area. A history of OKC in mandible and dermoid cysts was found in the patient,s brother. On extraoral examination, broad nasal ridge, hypertelorism and enlarged head circumfer- ence were inspected. Dermoid cyst was seen on the patient’s hand (Fig. 1). No palpable lymph nodes were found. Intraoral examina- tion revealed a non-tender swelling with bony hard consistency. There was no tooth mobility. The radiographic examination and CT scan from both sides of the mandible showed extensive radio- lucent lesions which were then diagnosed as OKC. His first OKC was diagnosed in 2010. Incisional biopsy was performed and then surgical drain was placed on each side of the lower jaw. In December 2010, the patient went to a dental clinic due to purulent discharge from his mandible. The patient’s last visit in January 2014 was due to bilateral facial swelling. Radiographs revealed bilateral lesions in the body and ramus of the mandible which were well defined as radiolucency with corticated margins resembling soap bubble appearance (Fig. 2). Unicystic ameloblastoma, OKC and mul- tiple myeloma were considered as differential diagnosis. Incisional biopsy was done for histopathological exami- nation which showed a cystic lesion, lined by parakeratinised stratified squamous epithelium with surface corrugation (Fig. 3). Pallisading pattern in basal cells and columnar basal cell layer exhibiting reversal of polarity were seen. The epithelium and connective tissue interface was flat. Detachment of the cyst lining from the fibrous wall was observed (Fig. 4). The connec- tive tissue was fibrotic with blood vessels. Odontogenic epithe- lial islands in the connective tissue were visible (Fig. 5). The diagnosis was OKC and considering the clinical find- ings the patient was found to be a case of GGS. Decompression tubes were used after performing bony windows to reduce the cysts size, and the patient was told to maintain oral hygiene and irrigate the cavity every day. The patient attended follow up ses- sions for 6 months, but refused to undergo enucleation surgery. Discussion Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syn- drome) is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity.4 It is caused by mutations in PTCH, a tumor suppressor gene, a human homologue of a Drosophila segment polarity gene PTCH located in long arm of chromosome 9q22.3.4–7 The prevalence of Gorlin syndrome is estimated to be about 1 in 60,000.4 In 1894, Jarisch and White made the first descriptions of patients with this syndrome,5,8 Bettley and Ward were the first who related the presence of palmar and plantar pits with the syn- drome in 1950–1960.5,9,10 Jaw cysts are one of the most constant features of the syndrome and are present in at least 75% of the patients.4 In GGS, OKC is a common lesion in the jaws.11 The cysts are frequently multiple; some patients have had as many as 10 separate cysts.4 Less than 10% of patients with multiple OKCs have other manifestations of this syndrome; however, it has been suggested that multiple OKCs alone may be the confirmatory of the syndrome.12 These may be bilateral, may involve both jaws and most commonly arise in the lower third molar and maxillary canine regions.11 In patients with GGS, OKCs are more frequent, recur faster and more commonly, consistent with a more “aggres- sive” phenotype.11,13 The keratocysts in patients with this syn- drome tend to have more satellite cysts, solid islands of epithelial proliferation and odontogenic epithelial rests within the fibrous capsule than isolated keratocysts.4 The increased recurrence rate of OKC in syndromic patients compared to non-syndromic patients is because of a familial tendency in this syndrome, s006F, early family detection and genetic counseling are critical.14,15 OKC associated with NBCCS have occasionally been reported to transform into aggressive neoplasms such as ameloblastomas and squamous cell carcinoma.14,16 ISSN 2413-0516 aAssistant Professor, Department of Oral and Maxillofacial Pathology, Dentistry School, Babol University of Medical Sciences, Babol, Iran. bFaculty, Department of Oral and Maxillofacial Pathology, Dentistry School, Mazandaran University of Medical Sciences, Sari, Iran. cAssistant Professor, Department of Oral and Maxillofacial Surgery, Dentistry School, Babol University of Medical Sciences, Babol, Iran. Correspondence to: Shima Nafarzadeh (email: shima.nafar2004@yahoo.com). (Submitted: 10 June 2015 – Revised version received: 03 July 2015 – Accepted: 11 July 2015 – Published online: 26 March 2016) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883343/#ref1 mailto:shima.nafar2004@yahoo.com 34 J Contemp Med Sci | Vol. 2, No. 5, Winter 2016: 33–35 Gorlin-goltz syndrome: case report Research Shima Nafarzadeh et al. Fig. 1 Similar dermoid cyst on hands. Fig. 2 Orthopantmograph showing multiple lesions in the body and ramus of the mandible. Fig. 3 Low power showing a cystic cavity lined by parakeratinised epithelium with surface corrugation. Fig. 4 Detachment of portions of the epithelium from the fibrous wall. Fig. 5 Histopathologic view shows odontogenic epithelial islands in the cyst connective tissue wall. In WHO 2005 classification of odontogenic tumors, the name of the cyst has been changed to “keratocystic odontogenic tumor” owing to its aggressive nature and recur rence rate.11 In 1994, Evans et al., first established major and minor diagnostic criteria for this syndrome which was modified later by Kimonos et al., in 2004,5,17,18 the major and minor criteria are as follows: Major criteria •   Multiple basal cell carcinomas or one occurring under the  age of 20 years. •  Bifid, fused or markedly splayed ribs. •  OKCs of the jaws confirmed by histopathology. •  Palmar or plantar pits (three or more). •  First degree relative with NBCCS. •  Bilamellar calcifications of the falx cerebri. Minor criteria •  Macrocephaly (adjusted for height). •   Skeletal abnormalities: Sprengel deformity, marked pectus  deformity and marked syndactyly of the digits. 35J Contemp Med Sci | Vol. 2, No. 5, Winter 2016: 33–35 Research Gorlin-goltz syndrome: case reportShima Nafarzadeh et al. References 1. 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Two major criteria or one major and two minor criteria are necessary to diagnose this syndrome.5 Our patient had broad nasal ridge, hypertelorism, enlarged head circumference, dermoid cyst on hands and multiple OKC in the mandible. In a case report Pol et al.19 had three major features, namely palmar pits, multiple OKCs in the jaw and lamellar calcification of the falx cerebri and minor features such as macrocephaly, fontal bossing and hypertelorism, thus suggesting it to be a case of the GGS. In their patient, the lining of the OKCs revealed the presence of parakeratinised uniform squamous epithelial lining with multiple satellite and daughter cysts in the connective tissue wall, thus indicating the association with GGS. In a case report Syyam et al.5 The present case fulfills the above three major criteria features like multiple OKCS, positive family history, calcification of falx cereberi and tentorial cerebella and with two minor criteria features that includes hypertelorism and neurologic disorder as the patient had episodes of seizures. Most of the anomalies in nevoid basal cell carcinoma syndrome are minor and usually not life threatening.4 The prognosis generally depends on the behaviour of the skin tumors.4 The jaw cysts are treated by enucleation. Infection of the cysts in patients with this syndrome is also relatively common.4  11. Kalia V, Kaushal N, Kalra G. The syndromic multiple odontogenic keratocyst in siblings: a familial study. Ann Maxillofac Surg. 2011;1(1):77. 12. Agrawal A, Murari A, Vutukuri S, Singh A. Gorlin-goltz syndrome: case report of a rare hereditarydisorder. Case Rep Dent. 2012;2012:475439. 13. Zedan W, Robinson P, Markham A, High A. 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