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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 30  |  Issue : 2  |  Page : 177-180

Nevoid basal cell carcinoma syndrome: A case report with literature review


1 Department of Oral Medicine and Radiology, Bharati Vidyapeeth Deemed University Dental College and Hospital, Pune, Maharashtra, India
2 Department of Oral and Maxillofacial Surgery, Sinhagad Dental College, Pune, Maharashtra, India
3 Department of Oral and Maxillofacial Surgery, RKDF Dental College, Bhopal, Madhya Pradesh, India
4 Department of Oral and Maxillofacial Surgery, Bharati Vidyapeeth Deemed University Dental College and Hospital, Pune, Maharashtra, India

Date of Submission04-Apr-2018
Date of Acceptance01-Jun-2018
Date of Web Publication16-Jul-2018

Correspondence Address:
Dr. Manjula Hebbale
Department of Oral Medicine and Radiology, Bharati Vidyapeeth Deemed University Dental College and Hospital, Pune - 411 043, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaomr.jiaomr_51_18

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   Abstract 


Nevoid basal cell carcinoma or Gorlin–Goltz syndrome is an autosomal dominant inherited disorder that results in numerous basal cell carcinomas (BCC) as well as a number of other facial and skeletal findings. The estimated prevalence varies from 1/57000 to 1/256000 with a male-to-female ratio of 1:1. Main clinical manifestations include multiple BCCs, odontogenic keratocysts of jaws, intracranial ectopic calcifications, and skeletal abnormalities affecting the ribs, vertebra, and skull. Management requires a multidisciplinary approach, with surgical removal of odontogenic keratocysts; surgery for BCCs should be indicated when the number of such lesions is limited. We report a case that was managed surgically, with a follow-up of more than 2 years having no signs of recurrence and relevant literature review.

Keywords: Basal cell carcinoma, basal cell nevi, Gorlin–Goltz syndrome, multiple jaw cysts


How to cite this article:
Hebbale M, Gawande P, Maria A, Halli R, Giroh VR. Nevoid basal cell carcinoma syndrome: A case report with literature review. J Indian Acad Oral Med Radiol 2018;30:177-80

How to cite this URL:
Hebbale M, Gawande P, Maria A, Halli R, Giroh VR. Nevoid basal cell carcinoma syndrome: A case report with literature review. J Indian Acad Oral Med Radiol [serial online] 2018 [cited 2021 Aug 5];30:177-80. Available from: https://www.jiaomr.in/text.asp?2018/30/2/177/236731




   Introduction Top


The simultaneous occurrence of multiple nevoid basal cell epithelioma, multiple jaw cysts, bifid ribs, and other skeletal anomalies was first described by Gorlin and Goltz in 1960.[1]

This has since been regarded as a distinct syndrome. The terms basal cell nevus syndrome, multiple basal cell nevi syndrome, and nevoid basal cell carcinoma syndrome (NBCCS) are now commonly used as synonyms. Since Gorlin and Goltz first described the syndrome as a triad of multiple BCCs, odontogenic keratocysts (OKC) and skeletal anomalies, numerous and varied manifestations of the NBCCS have been reported.

The inheritance indicates an autosomal dominant trait with marked penetrance and variable expressivity. Further, different chromosome abnormalities have been described occurring in patients with this syndrome. The gene whose mutation underlies NBCCS has been mapped to the long arm of chromosome 9q22.3-q31 and has no apparent heterogeneity. Data suggest that a product of this gene acts as a tumor suppressor, and NBCCS typical malformative pattern suggests that the gene's main function is to control the growth and development of normal tissues.

The diagnosis of NBCCS is based on the criteria given by Evans et al.[2] and modified by Kimonis et al. in 1997 which states that patients should meet two major criteria or one major criteria and two minor criteria.[3]

Investigations in the form of radiographs such as skull (AP, lateral Sskull), chest, abd pelvis and jaws (orthopantomogram) can be taken to detect calcification of falx cerebri, rib anomalies, and calcification of ovarian fibromas,[3] as well as the occurrence of multiple jaw cysts.

The odontogenic keratocyst is well documented and most commonly occurs as a single lesion in the jaw of an otherwise healthy person. However, multiple OKCs are also a well-recognized feature of the NBCCS. Clinically, radiologically, and histopathologically, the jaw cysts in the syndrome are most often multilobular and multilocular keratocysts with a high rate of recurrence.


   Case Report Top


A 38-year-old male presented with the complaints of malaligned teeth and multiple pigmentations on the face. Bluish-grey pigmented papule was seen below the right lower eyelid surrounded by raised pearly borders associated with small pigmented papules on its lateral and medial aspect [Figure 1].
Figure 1: Basal cell nevi beneath the lower eyelid

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Mandibular and maxillary alveolar ridges were thick and prominent in both right and left posterior region [Figure 2]. Orthopantomogram (OPG) showed multilocular radiolucencies in both upper and lower jaws. The radiolucency in the maxilla was ill-defined and extended from 16 to 23 region [Figure 3]; 13 and 26 were impacted.
Figure 2: Intraoral view

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Figure 3: Orthopantomogram revealing multiple jaw cysts

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The mandibular multilocular radiolucency was extending from 36 to 48 region. Impacted 33 with distal displacement of the roots of 34 is seen.

The lateral cephalogram showed bridging of sella turcica [Figure 4]. The PNS skull view showed calcification of falx cerebri [Figure 5]. The PA chest radiograph showed bifid ribs on the right side [Figure 6]. The radiograph of the neck showed cervical vertebral anomaly in two regions [Figure 7].
Figure 4: Bridging of Sella Turcica on lateral cephalogram

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Figure 5: Calcification of falx cerebri

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Figure 6: Bifid ribs on right side

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Figure 7: Cervical vertebral anomaly on neck radiograph

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Due to the typical features and presence of two major criteria, the patient was diagnosed as basal cell nevus syndrome.

Under general anaesthesia, all the cysts were enucleated and the nevus was excised using an electro-cautery [Figure 8], [Figure 9], [Figure 10]. The histopathological report of the excised tissue was given as odontogenic keratocyst [Figure 11]. Postoperative recovery was uneventful and patient is on regular follow-up with no signs of recurrence of either jaw cysts or the nevus.
Figure 8: Cystic lesions in the mandible

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Figure 9: Cystic lesions in the maxilla

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Figure 10: Postoperative picture after Nevi excision

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Figure 11: Histopathology photomicrograph (Hematoxylin and eosin staining ×40)

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   Discussion Top


NBCCS is a hereditary condition transmitted by an autosomal dominant gene that is highly penetrating with variable expressivity.[4]

It is caused by mutations in patched (PTCH), a human homologue of the Drosophila gene mapped to tumor suppressor gene located at 9q21.3. It functions as a cell cycle regulator, stopping cell division in the absence of ligand and permitting cell division when ligand binding occurs.[5],[6]

Clinical findings in this syndrome include abnormalities of the brain, ribs, vertebrae, and limbs and patched is expressed in all of these tissues.

The jaw cysts are the first signs of NBCCS and are scattered throughout the jaws, with scalloped outline, multilocular features, and might contain unerupted, displaced teeth [7] as was seen in this case.

The other dental defects found to occur in NBCCS include malocclusions, cleft palate and lip, high–arched palate, malocclusion, dental ectopy or heterotopy, impacted teeth, and dental agenesis.[8],[9],[10] In the present case, malocclusion, high-arched palate, impacted teeth, and dental agenesis were observed.

The skeletal findings in NBCCS include scoliosis, abnormal skull configurations, including frontal, bi-parietal and temporal bossing, the calvaria tended to be large, while interorbital distance was only slightly increased. Other skeletal anomalies included bifid ribs, splayed ribs, thoracic vertebral anomalies, and cervical vertebral anomalies.

In the present case, calcaria appeared to be large, there was bifid ribs and cervical vertebral anomaly. Ectopic calcification in NBCCS include lamellar calcification of falx cerebri, calcification of the tentorium cerebelli, bony bridging of sella turcica. The present case showed calcification of falx cerebri and bridging of sella turcica.

Dermatologic visits are indicated for young children 3–6 years of age who are at a risk of developing NBCCS.


   Conclusion Top


OKCs are often first signs of NBCCS and can be detected in patients younger than 10 years of age. OKCs arise earlier in patients with NBCCS than in patients without the abovementioned disease. Hence, early diagnosis of this syndrome is very important and can be made with the help of radiographs. A definitive presymptomatic diagnosis also can be made by molecular genetic linkage. Prompt surgical intervention with respect to basal cell nevi excision and enucleation of all the jaw keratocysts have a better prognosis and less chances of recurrence.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Gorlin RJ, Goltz RW. Multiple nevoid basal–cell epithelioma, jaw cysts and bifid rib. A syndrome. New Engl J Med 1960;262:908-12.  Back to cited text no. 1
    
2.
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. 2
    
3.
Kimonos VF, Goldstein AM, Pastahia B, Yang ML, Kaer R, Di Giovanna JJ, et al. Clinical manifestations in 108 persons with NBCCS. Am J Med Genet 1997;69:299-308.  Back to cited text no. 3
    
4.
Lambrecht JT, Stubinger S, Siewert B, Harle F. Calcification of the falx cerebri- A pathognonomic symptom of Gorlin Goltz syndrome. HNO 2005;53:701-6.  Back to cited text no. 4
    
5.
Lo Muzio L, Nocini P, Bucci P, Pannone G, Consolo U, Procaccini M. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc 1999;130:669-74.  Back to cited text no. 5
    
6.
Levanat S, Gorlin RJ, Fallet S, Johnson DR, Fanatsia JE, Bale AE. A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 1996;12:85-7.  Back to cited text no. 6
    
7.
Cohen MM. Nevoid basal cell carcinoma syndrome molecular biology and new hypothesis. Int J Oral Maxillofac Surg 1999;28:216-23.  Back to cited text no. 7
    
8.
Henryk W, Pawel S, Katarzyna B, Arkadiusz J, Rafal C. Basal cell nevus syndrome (Gorlin-Goltz syndrome): Genetic predisposition, clinical picture and treatment. Postepy Dermatol Alergol 2017;34:381-7.  Back to cited text no. 8
    
9.
Bresler SC, Padwa BC, Granter Sr. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol 2016;10:119-24.  Back to cited text no. 9
    
10.
Anchlia S, Vyas S, Bahl S, Nagavadiya V. Gorlin-Goltz syndrome in twin brothers: An unusual occurrence with review of the literature. BMJ Case Rep 2015;8:1-9.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11]



 

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