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CASE REPORT
Year : 2013  |  Volume : 2  |  Issue : 2  |  Page : 150-153

Gorlin-Goltz syndrome: A rare case report


1 Department of Oral Pathology, Government Dental College, Vijayawada, Andhra Pradesh, India
2 Department of Oral Pathology, Dr. Sudha and Nageshwara Rao Siddartha Institute of Dental Sciences, Vijayawada, Andhra Pradesh, India
3 Department of Periodontics, Institute of Dental Sciences, Bareilly, Uttar Pradesh, India
4 Department of Orthodontics, Institute of Dental Sciences, Bareilly, Uttar Pradesh, India

Date of Web Publication21-May-2013

Correspondence Address:
Srikanth Guduguntla
Department of Periodontics, Institute of Dental Sciences, Bareilly, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2277-8632.112358

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  Abstract 

Gorlin-Goltz syndrome is an inherited autosomal dominant disorder characterized by the presence of multiple odontogenic keratocysts of jaws, basal cell carcinomas, palmar, plantar pits and intracranial calcifications. Apart from these many dental, skeletal, ophthalmic and neurological abnormalities have been reported. Here, we present a case of familial Gorlin-Goltz Syndrome, characterized by multiple odontogenic cysts, calcification of falx cerebri, hypertelorism and neurologic disorder.

Keywords: Calcification of falx cerebri, Gorlin-Goltz syndrome, keratocysts, multiple odontogenic


How to cite this article:
Sunder SN, Babburi S, Guduguntla S, Raju P S. Gorlin-Goltz syndrome: A rare case report. J NTR Univ Health Sci 2013;2:150-3

How to cite this URL:
Sunder SN, Babburi S, Guduguntla S, Raju P S. Gorlin-Goltz syndrome: A rare case report. J NTR Univ Health Sci [serial online] 2013 [cited 2019 Nov 19];2:150-3. Available from: http://www.jdrntruhs.org/text.asp?2013/2/2/150/112358


  Introduction Top


The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an inherited ausomal dominant systemic disorder having versatile manifestations. This syndrome is characterized by multiple odontogenic keratocysts, basal cell carcinomas of skin, palmar, and plantar pits, the Gorlin-Goltz syndrome has wide spectrum of neurological, ocular, skeletal, gentiourinary disorders. [1] The dentist has the privilege of diagnosing the syndrome first-as multiple Odontogenic KeratoCystS are first manifestations of this syndrome. [2] This article reports a case of a 24-year-old male patient with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestations.


  Case Report Top


A 24-year-old male patient reported to outpatient department with a compliant of swelling and dull pain in lower left side of the jaw since 4 months, similar type of illness was developed 4 years back for which he undergone extraction of upper teeth in a private clinic. Family history revealed similar jaw swelling occurred in patient's father and brother. History revealed patient is under medication for seizures.

On extraoral examination, the face showed broad nasal ridge, hypertelorism, widely spaced inner canthus of both the eyes [Figure 1]. The submandibular lymph nodes are firm, nontender which are palpable. Intraoral examination revealed missing all third molars and maxillary canines, mild diffuse swelling observed on right (2 × 1.5 cm) and left side (1.5 × 2.5 cm) of the retromolar area. The entire buccal sulcus of the vestibule is filled up by the lesion. A white yellow cheesy material is aspirated by FNAC (Fine Neddle Aspiration Cytology). Based on personal family history and clinical examination, provisional diagnosis of multiple odontogenic keratocyst was recorded. A differential diagnosis of multiple dentigerous cyst and Gorlin-Goltz syndrome was concluded.
Figure 1: Inner cantus of eyes widely separated hypertelorism

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Further investigations were advised including, orthopantomogram (OPG), chest radiograph, computed tomography (CT) of brain, magnetic resonance imaging (MRI) of brain, EEG (Electro Encephalo Gram'). CT scan of brain revealed falx and tentorial calcification [Figure 2]. EEG revealed previous attack of seizures, MRI of chest radiograph is normal, OPG [Figure 3] revealed unerupted third molars with unilocular radiolucency in right and left retromolar area, lesion on right side is approximately 2 × 1.5 cm, oval in shape, extending anteriorly from furcation area of third molar to retromolar area posteriorly, involving whole of the distal half of the tooth. Lesion on left side is approximately around 2.5 × 2 cm, extending from anteriorly from distal root of first molar to retromolar area and body of the mandible posteriorly, with thinning of lower border of the mandible.
Figure 2: Orthopanthmoograph showing unilocular radiolucency at right and left retromolar areas

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Figure 3: CT scan of brain showing, calcifi cations of falx cerebri and tentorium cerebella

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Incisional biopsy was taken and sent for histopathological examination which revealed a cystic lesion, lined by parakeratinized stratified squamous epithelium exhibiting pallisading pattern of basal cells, tall columnar basal cell layer exhibiting reversal of polarity, epithelium connective junction is flat, the underlying connective is devoid of inflammatory cells, and made of thin collagen fibers, [Figure 4] and [Figure 5] these features are suggestive of odontogenic keratocyst, correlating with others clinical, familial, and radiological features-A diagnosis of Gorlin-Goltz asyndrome was made.
Figure 4: Low power showing a cystic cavity lined by parakeratinized epithelium

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Figure 5: High power exhibiting pallisading of basal cells, tall columnar basal cell layer exhibiting reversal of polarity, epithelium connective junction is flat

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  Discussion Top


Gorlin-Goltz syndrome is a rare inherited autosomal dominant disorder with multisystem manifestations. It is caused by mutations in a tumor suppressor gene of PTCH(- Protein patched homolog - protein in humans encoded in PTCH gene. Mutation in this gene causes nevoid basal cell carcinoma. Written in symbol as PTCH .) , a human homologue of a Drosophila segment polarity gene Ptch located in long arm of chromosome 9q22.3. [3],[4] Globally, the eestimated prevalence is from 1 in 50,000 (6) to 1 in 1,50,000 and equally reported in males and females. [5],[6] There are many dermatological, neurological, vertebral, ocular, genitor-urinary disorder which may be associated with is syndrome. [7],[8] Together with these major features, more than 100 minor features have been described.

Gorlin-Goltz syndrome existed during dynastic Egyptian times, as shown by findings compatible with the syndrome in mummies dating back to 1,000 B.C. [9] In 1894, Jarisch and White made the first descriptions of patients with this syndrome, [10] Bettley and Ward were the first to relate the presence of palmar and plantar pits with the syndrome in 1950-1960. [11],[12] Robert J. Gorlin and Robort W. Goltz established a classical triad that characterizes the diagnosis of this syndrome they are multiple basocellular epitheliomas, keratocysts in the jaws and bifid ribs. This triad was later modified by Rayner et al., [13] who established that for giving the diagnosis at least cysts had to appear in combination with calcification of the falxcerebri or palmar and plantar pits. Various neoplasms are associated with this syndrome so correct diagnosis is required to prevent fatal complications. 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, [14],[15] 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.
  • Congenital malformation: Cleft lip or cleft palate, frontal bossing, coarse face moderate, or severe hypertelorism
  • Radiological abnormalities: Bridging of sella turcica, vertebral anomalies such as hemi vertebrae, fusion or elongation of vertebral bodies, modeling defects of the hands and feet, or flame-shaped hands or feet.
  • Medulloblastoma, seizures, mental retardation, meningioma.
  • Ovarian fibroma.


Two major criteria or one major and two minor criteria are necessary to diagnose this syndrome. 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 includes hypertelorism and neurologic disorder as the patient had episodes of seizures.


  Conclusion Top


It is important to make proper evaluation and characterization of this syndrome. The clinical features are of the utmost importance for an early diagnosis and a proper management of Gorlin-Goltz syndrome, so as to reduce the severity of complications. Dental surgeon has a vital role in diagnosing this syndrome, as presence of multiple unerupted teeth and presence of multiple OKCS are fist manifestations of this syndrome which have a tendency to recur and so, regular periodic follow-up by a dental surgeon should be offered in such patients.

 
  References Top

1.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. 1
    
2.Kannan KS, Sundharam SB, Manikandan R. Nevoid basal cell carcinoma syndrome. Indian J Dent Res 2011;17:50-3.  Back to cited text no. 2
    
3.Casaroto AR, Loures DC, Moreschi E, Veltrini VC, Trento CL, Gottardo VD, et al. Early diagnosis of Gorlin-Goltz syndrome: Case report. Head Face Med 2011;7:2.  Back to cited text no. 3
    
4.Shakya H, Mubeen K. Gorlin-Goltz syndrome with situs inversus: A rare case report. J Dent Clin Res 2009;5:175-84.   Back to cited text no. 4
    
5.Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994;50:282-90.  Back to cited text no. 5
    
6.Amezaga AO, Arregui OG, Nuño SZ, Sagredo AA, Urizar JM. Gorlin-Goltz syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008;13:338-43.  Back to cited text no. 6
    
7.Evans DG, Fardon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 1991;64:959-61.  Back to cited text no. 7
    
8.Paveli B, Valter K, Vu-Boras V. Incidence of odontogenic keratocysts in patients with Gorlin-Goltz syndrome according to age, gender and location. Acta Stomatol Croat 2004;23-5.  Back to cited text no. 8
    
9.Satinoff MI, Wells C. Multiple basal cell naevus syndrome in ancient Egypt. Med Hist 1969;13:294-7.  Back to cited text no. 9
    
10.Jarisch W. Zur Lehre von den Hautgeschwulsten. Arch Dermatol Syphilol 1894;18:162-222.  Back to cited text no. 10
    
11.Bettley FR. Two cases of multiple nevoid basal cell ephiteliomata? Porokeratosis of Mantoux. Br J Dermatol 1953;65:219-21.  Back to cited text no. 11
    
12.Ward WH. Naevoid basal celled carcinoma associated with a dyskeratosis of the palms and soles. A new entity. Aust J Dermatol 1960;5:204-8.  Back to cited text no. 12
    
13.Rayner CR, Towers JF, Wilson JS. What is Gorlin's syndrome? The diagnosis and management of 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. 13
    
14.Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study. J Med Genet 1993;30:460-4.  Back to cited text no. 14
    
15.Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 2004;6:495-502.  Back to cited text no. 15
    


    Figures

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



 

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  Introduction
  Case Report
  Discussion
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