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Year : 2013  |  Volume : 9  |  Issue : 3  |  Page : 543-544

Recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A major diagnostic dilemma for clinicians

1 Department of Oral Surgery, Shree Bankey Bihari Dental College and Research Centre, Ghaziabad, Uttar Pradesh, India
2 Department of Prosthodontics, Shree Bankey Bihari Dental College and Research Centre, Ghaziabad, Uttar Pradesh, India
3 Department of Prosthodontics, Manipal College of Dental Sciences, Manipal, India

Date of Web Publication8-Oct-2013

Correspondence Address:
Suraj Suvarna
Department of Prosthodontics, Shree Bankey Bihari Dental College and Research Centre, Ghaziabad, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.119360

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 > Abstract 

The odontogenic keratocysts (OKC) usually represent a particular entity that has been of interest primarily due to biological aggressiveness and to its frequent recurrence. Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome is a hereditary condition characterized by a wide-range of developmental abnormalities and a predisposition to neoplasms. There are several possible reasons why OKC recur so frequently and require meticulous surgical planning and execution. This article has attempted to show that there is a lack of published evidence regarding the cause of frequent recurrent of OKC that presented in NBCCS. However, the findings of the study revealed differences in opinion regarding the treatment modalities, which necessitates further long term clinical studies that could precisely document certain reliable guidelines in this point of view.

Keywords: Basal Cell Nevus Syndrome, Gorlin syndrome, Odontogenic keratocysts

How to cite this article:
Gupta A, Suvarna S, Khanna G, Sahoo S. Recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A major diagnostic dilemma for clinicians. J Can Res Ther 2013;9:543-4

How to cite this URL:
Gupta A, Suvarna S, Khanna G, Sahoo S. Recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A major diagnostic dilemma for clinicians. J Can Res Ther [serial online] 2013 [cited 2022 Nov 26];9:543-4. Available from: https://www.cancerjournal.net/text.asp?2013/9/3/543/119360

 > Introduction Top

Diagnosis and management of nevoid basal cell carcinoma syndrome (NBCCS) with concomitant occurrence of odontogenic keratocysts (OKCs) in this syndrome has always been a matter of debate in the literature since ages. OKCs may be presented as the first sign of NBCCS and can be well-identified in patients younger than10 years of age. [1],[2],[3] OKCs usually arise somewhat earlier and have more recurrence rate in patients who have NBCCS than non-syndromic patients. NBCCS is caused by mutation in PTCH1 (patched tumor suppressor gene) and is transmitted as an autosomal dominant trait with complete penetration and variable expressivity. [4] However, in NBCC patients there is continued development t of new and recurring cysts until about age 30, when the rate of development tends to decrease. Most non - NBCCS keratocysts are isolated lesions, whereas in NBCCS, the keratocysts are commonly multiple, from1 to 30, and the average number is five with the most common site in mandible being molar-ramus region followed by the incisor-canine region. In maxilla, the most common location is incisor-canine followed by molar tuberosity regions. [3],[5]

Recurrence of OKC in NBCCS is well-documented to be due to the familial inheritance that require immediate detection in families with critical genetic counseling, retained satellite cysts during enucleation or retained neural cell islands or portions of lining left behind. [2],[5] As clinical diagnosis always relies on a criterion,which may lead to delayed diagnosis of NBCCS, gene mutation analysis should be used in suspicious cases to substantiate the diagnosis. In addition, the antenatal diagnosis is also feasible by means of ultrasound scans and analysis of DNA extracted from fatal cells obtained by amniocentesis. Eventually, it is worth stating the major differential diagnosis that includes Bazexsyndrome, trichoepitheliomapapulosum multiplex and Torre's syndrome. [1]

OKCs associated with NBCCS have found to be immune-positive for p53 protein and overexpression of cyclin D1 with various degrees of staining intensity while non-syndromic OKCs have mostly been found to be negative for p53 and cyclin D1. [1],[6],[7] This type of immunoexpression could be considered as a hallmark of a mutated cellular phenotype;thus,leading to the aggressive clinical behavior showing recurrence as there is deregulation of the expression of cyclin D1 and p53, involved in a check point control of cellular proliferation. Management requires a multidisciplinary approach involving surgical removal, laser ablation, photodynamic therapy, and topical chemotherapy. Radiotherapy should be avoided. Vitamin Aanalogs may help in maintaining healthy epithelium. Regular follow-up by a multi-specialist team comprising of Dermatologist, Neurologist, and Odontologist should be carried out. Patients with NBCCS should avoid an excessive sun exposure. [1] This letter is an endeavor to potentially attract the researcher's attention to this routinely obscured field with special emphasis on innovative modern techniques at molecular level to best diagnose NBCCS cases with their early detection.

 > References Top

1.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. 1
2.Janse van Rensburg L, Nortje CJ, Thompson I. Correlating imaging and histopathology of an odontogenickeratocyst in the nevoid basal cell carcinoma syndrome. DentomaxillofacRadiol 1997;26:195-9.  Back to cited text no. 2
3.Lo Muzio L, Nocini PF, Savoia A, Consolo U, Procaccini M, Zelante L, et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet 1999;55:34-40.  Back to cited text no. 3
4.Barreto DC, Gomez RS, Bale AE, Boson WL, De Marco L. PTCH gene mutations in odontogenickeratocysts. J Dent Res 2000;79:1418-22.  Back to cited text no. 4
5.Lam EW, Lee L, Perschbacher SE, Pharoah MJ. The occurrence of keratocysticodontogenictumours in nevoid basal cell carcinoma syndrome. DentomaxillofacRadiol 2009;38:475-9.  Back to cited text no. 5
6.Li TJ. The odontogenickeratocyst: A cyst, or a cystic neoplasm? J Dent Res 2011;90:133-42.  Back to cited text no. 6
7.Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308.  Back to cited text no. 7

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