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 Table of Contents  
CASE REPORT
Year : 2014  |  Volume : 26  |  Issue : 1  |  Page : 85-88

Gorlin Goltz syndrome: A clinicopathological case report


1 Department of Oral Medicine and Radiology, Maharashtra Institute of Dental Sciences and Research Dental College, Latur, Maharashtra, India
2 Department of Oral Medicine and Radiology, School of Dental Sciences, Krishna Institute of Medical Sciences Deemed University, Karad, Maharashtra, India
3 Department of Oral Pathology, Maharashtra Institute of Dental Sciences and Research Dental College, Latur, Maharashtra, India
4 Department of Conservative Dentistry and Endodontics, HKES Dental College, Gulbarga, Karnataka, India

Date of Submission11-Apr-2014
Date of Acceptance29-Aug-2014
Date of Web Publication26-Sep-2014

Correspondence Address:
Shobha C Bijjaragi
Maharashtra Institute of Dental Sciences and Research Dental College, Latur, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.141868

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   Abstract 

The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and / or plantar pits, calcification of the falx cerebri, and is occasionally associated with internal malignancies. It is fundamental to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome. Here we report a case of a 30-year-old male with major and minor features of the Gorlin-Goltz syndrome, such as, strabismus, barrel-shaped chest, with drooping shoulders and mild kyphosis, polydactyly, hypertelorism, multiple basal cell carcinomas, calcification of the falx cerebri, C5-C7 bifida spine, and fusion of T1 and T2.

Keywords: Gorlin-Goltz, odontogenic keratocystic tumor, plantar keratosis, strabismus


How to cite this article:
Bijjaragi SC, Suragimath A, Sangle VA, Patil VS. Gorlin Goltz syndrome: A clinicopathological case report . J Indian Acad Oral Med Radiol 2014;26:85-8

How to cite this URL:
Bijjaragi SC, Suragimath A, Sangle VA, Patil VS. Gorlin Goltz syndrome: A clinicopathological case report . J Indian Acad Oral Med Radiol [serial online] 2014 [cited 2020 May 26];26:85-8. Available from: http://www.jiaomr.in/text.asp?2014/26/1/85/141868


   Introduction Top


The Gorlin-Goltz syndrome (GGS) is also known as the 'basal cell nevus syndrome', [1] or the 'nevoid basal cell carcinoma syndrome'. [2],[3] Jarish and White were the first to describe this syndrome, in 1894. [4] In 1953, Gross presented a case with GGS. [5] Gorlin and Goltz, in 1950, established the classical triad of this syndrome, characterized by multiple basocellular epitheliomas, keratocysts in the jaws, and bifid ribs, [6] which was later modified by Rayner et al., who established that for making the diagnosis, at least odontogenic keratocysts had to appear in combination with calcification of the falx cerebri or palmar and plantar pits. [7] The incidence of this disorder is said to be 1 in 50,000 to 150,000 in the general population. [8] Both genders are equally affected and the clinical features arise in the first, second or third decade of life.


   Case Report Top


A 30-year-old male patient reported with a non-healing wound associated with pus discharge in the right and left front region of the lower jaw. The patient had a six-month history of pain and intermittent swelling in the same region and underwent extraction of the teeth (root stumps) from that region followed by a prescription of antibiotics and analgesics. One week later, he observed a non-healing wound and pus discharge from the extracted region.

On general physical examination, the patient was moderately built and nourished and presented with normal gait, with satisfactory vital signs. He had a barrel-shaped chest, with drooping shoulders and mild kyphosis. On extraoral examination, a mesoprosopic face form, concave facial profile, mild frontal bossing, prominent supraorbital ridges, midfacial hypoplasia, widened nasal bridge, hypertelorism, and mandibular prognathism were noted [Figure 1]. The right solitary submandibular lymph node was palpable, mobile, nontender, and measured 2 × 3 cm. A healing extraoral sinus tract was noted over the chin, superior to the lower border of the mandible, 1 mm lateral to the midline. Also a small swelling was noted, around 1.5 mm lateral to the medial canthus of the left eye. A well-defined nodular swelling was noted on the right hypochondrium. Punctuate pits on the plantar surface of the hands and postaxial polydactyly of the right foot were noted [Figure 2].
Figure 1: Facial photograph showing strabismus, hypoplastic maxilla, hypertelorism, with extraoral swelling in the chin region

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Figure 2: Photograph showing polydactyly of the right foot

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An intraoral examination revealed missing 31, 32, 43, and 45, with pus discharge from the extracted socket of 43 and 32. On palpation it was tender, with extrusion of pus [Figure 3].
Figure 3: Intraoral picture showing pus discharge from the extracted socket of 44 and 32

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On the basis of the clinical findings, a provisional diagnosis of infected developmental cyst associated with impacted 43 and 45, and a differential diagnosis of a residual abscess in relation to 32, 43 and 45 and a Gorlin-Goltz syndrome (nevoid basal carcinoma syndrome) were made.

On radiographic examination, the intraoral periapical radiograph (IOPA) of the lower front region showed missing 31 and 32 with well-defined radiolucency, extending from the mesial aspect of 41 to 33 [Figure 4].
Figure 4: Intraoral periapical radiograph showing ill-defined radiolucency in the region of 31 and 32

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A panoramic radiograph showed a well-defined radiolucency in the mandibular anterior region with an impacted mandibular right canine, third molar, and maxillary left second premolar, and right third molar. The radiolucent area was around 4 × 3 cm in diameter, extending from the mesial aspect of the root of 44 to the mesial aspect of the root of 33, with thinning of the lower cortical border, inferiorly. The internal structure of the radiolucency was hazy. Another well-defined radiolucency was noticed posterior to the impacted 48, extending toward the ramus, measuring about 2 × 1 cm in diameter, with a corticated border. Severe bone resorption was noted on the distal aspect of 27 and a well-defined radiolucent area was noted in the periapical region of 16 [Figure 5].
Figure 5: Panoramic radiograph showing ill-defined radiolucencies in the maxillary and mandibular regions

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The posteroanterior (PA) skull view showed a linear vertical radiopaque line in the midsaggital plane of the cranium, suggestive of calcified falx cerebri [Figure 6]. Lateral spine fusion of T1 and T2 vertebrae and mild anterior bending of the spine were noted. The anteroposterior (AP) view showed a C5 and C7 bifida spine. A radiographic diagnosis of multiple odontogenic keratocysts was given.
Figure 6: PA view of the skull showing calcified falx cerebri

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Klebsiella was isolated from the pus culture. The hematology report was within normal limits. Enucleation of the cyst wall in the anterior region was done and a histopathological examination revealed the presence of a cystic cavity lined by odontogenic epithelium of four- to six-cell thickness, with peripheral palisading nuclei, corrugation lost due to inflammation of the underlying connective tissue, and an inflammatory infiltrate consisting chiefly of lymphocytes in moderately dense collagen fibers [Figure 7].
Figure 7: Histopathological picture showing features of the odontogenic keratocyst

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A final diagnosis of infected odontogenic keratocyst in a patient with Gorlin-Goltz Syndrome was considered and the patient was referred to the respective specialty departments for enucleation of the keratocyst and replacement of the missing teeth with a denture prosthesis.


   Discussion Top


The Gorlin-Goltz Syndrome is an autosomal dominant inherited disease. The tumor-suppressor (PTCH) gene, located in the 9q22.3 chromosome is one of the causes of the Gorlin-Goltz syndrome. [9],[10] Mutation of this gene produces dysregulation of several genes. Consequently, the syndrome includes a wide spectrum of defects involving the skin, eyes, central nervous and endocrine systems, and bones. However, the patient who reported to us had healthy parents without any signs or symptoms of the syndrome.

The diagnostic criteria for GGS were put forth by Evans and colleague, and modified by Kimonis et al. According to them, diagnosis of GGS could be established following the presence of two major or one major and two minor criteria. [9],[11] The present reported case of GGS fulfilled four major features of the Nevoid Basal Cell Carcinoma syndrome (NBCCS) viz., Multiple basal cell carcinomas, odontogenic keratocyst in the jaw, punctate pits on palms, calcified falx cerebri, and minor features, such as, frontal bossing, hypertelorism, C5 and C7 bifida spine, fusion of T1 and T2 vertebrae, and postaxial polydactyly in the left foot.

Oral and dental anomalies were described by Warburg. [12] Most of those findings were found to be consistent in our patient. Skeletal anomalies included short stature, with asymmetric involvement of the hands and feet, including syndactyly, ectrodactyly, polydactyly, absence or hypoplasia of the digits, and even absence of an extremity. Scoliosis, skeletal asymmetry, clavicular dysplasia, and spina bifida occulta could occur. The characteristic radiological change was osteopathia striata of the long bones. [13] Our patient had multiple skeletal anomalies, such as, polydactyly, mild kyphoscoliosis, and asymmetrical fingers and toes.

On the basis of histopathological studies, parakeratinization, intramural epithelial remnants, and satellite cysts were found to be more frequent among the NBCCS than in solitary keratocysts. [14] The present case revealed a cystic cavity lined by an odontogenic epithelium, of four- to six-cell thickness, with peripheral palisading nuclei, corrugation lost due to inflammation of the underlying connective tissue, inflammatory infiltrate chiefly consisting of lymphocytes, in moderately dense collagen fibers.

The treatment of GGS is similar to the treatment of basal cell carcinomas and keratocysts. Radiation may cause tumors in the adjacent skin areas. Cystectomy with removal of the bony walls is the treatment for odontogenic keratocysts. In the treatment of recurrent OKCs, which are associated with NBCCS, the overlying surface epithelium should be excised along with the cystic lining to prevent recurrence. [8],[14] The use of Carnoy's solution after cyst enucleation and cryosurgery is advised to prevent recurrences. [15] In the present case, we have advised surgical treatment for the odontogenic keratocyst and replacement of missing teeth.


   Conclusion Top


The Gorlin-Goltz Syndrome must be considered as a possible diagnosis in all patients with odontogenic cysts. Early diagnosis by specialists with clinical and imaging modalities is useful for early management of neoplastic lesions in the early ages of life, and that results in a better prognosis.

 
   References Top

1.DeAmezaga AO, Arregui OG, Nuño SZ, Sagredo AA, Urizar JM. Gorlin-Goltz syndrome: Clinocopathological aspects. Med Oral Pathol Oral Cir Bucal 2008;13:E338-43.  Back to cited text no. 1
    
2.Gu XM, Zhao HS, Sun LS, Li TJ. PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res 2006;85:859-63.  Back to cited text no. 2
    
3.R Yang X, Pfeiffer RM, Goldstein AM. Influence of glutathione-S-transferase (GSTM1, GSTP1, GSTT1) and cytochrome p450 (CYP1A1, CYP2D6) polymorphisms on numbers of basal cell carcinomas (BCCs) in families with the naevoid basal cell carcinoma syndrome. J Med Genet 2006;43:e16.  Back to cited text no. 3
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4.Agrawal A, Murari A, Vutukuri S, Singh A. Gorlin-goltz Syndrome: Case report of a rare hereditary disorder. Case Rep Dent 2012;2012:475439.  Back to cited text no. 4
    
5.Howell JB, Caro MR. The basal-cell nevus: Its relationship to multiple cutaneous cancers and associated anomalies of development. Arch Dermatol 1982;118:813-23.  Back to cited text no. 5
    
6.Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960;262:908-12.  Back to cited text no. 6
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7.Rayner CR, Towers JF, Wilson JS. What is Gorlin's syndrome? The diagnosis and management of the basal cell naevus syndrome, based on a study of thirty-seven patients. Br J Plast Surg 1977;30:62-7.  Back to cited text no. 7
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8.Ljubenoviæ M, Ljubenoviæ D, Biniæ I, Jovanoviæ D, Stanojeviæ M. Gorlin-Goltz syndrome. Acta Dermatovenerol Alp Pannonica Adriat 2007;16:166-9.  Back to cited text no. 8
    
9.Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, et al. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat 2005;25:322-3.  Back to cited text no. 9
    
10.Boutet N, Bignon YJ, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, et al. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol 2003;121:478-81.  Back to cited text no. 10
    
11.Shakya H, Mubeen K. Gorlin-Goltz syndrome with situs inversus: A care case report. Rev Clin Pesq Odontol Curitiba 2009;5:175-84.  Back to cited text no. 11
    
12.Gammaz H, Amer H, Adly A, Mohsen A. Focal dermal hypoplasia (Goltz Syndrome): A case report and review of literature. Egyptian Dermatology Online Journal 2010;6:13.  Back to cited text no. 12
    
13.Temple IK, MacDowall P, Baraitser M, Atherton DJ. Focal dermal hypoplasia (Goltz syndrome). J Med Genet 1990;27:180-7.  Back to cited text no. 13
    
14.Garg P, Karjodkar F, Garg SK. Gorlin-goltz syndrome-case report. Journal of Clinical and Diagnostic Research 2011;5:393-95.  Back to cited text no. 14
    
15.Stoelinga PJ. Excision of the overlying, attached mucosa, in conjunction with cyst enucleation and treatment of the bony defect with carnoy solution. Oral Maxillofac Surg Clin North Am 2003;15:407-14.  Back to cited text no. 15
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    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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