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Case Reports
. 2020 May-Aug;24(2):315-321.
doi: 10.4103/jomfp.JOMFP_358_19. Epub 2020 Sep 9.

Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series

Shikha Saxena  1 , Krishna Sireesha Sundaragiri  1 , Akshay Bhargava  1 , Bharat Sankhla  1
Affiliations
Case Reports

Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series

Shikha Saxena et al. J Oral Maxillofac Pathol. 2020 May-Aug.

Abstract

Nevoid basal-cell carcinoma syndrome (NBCCS) or Gorlin-Goltz syndrome is an autosomal dominant-inherited condition that exhibits high penetrance and variable expressivity; however, this disorder can arise spontaneously. In 1960, Gorlin and Goltz described the syndrome as a condition, comprising the principle triad of multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. The diagnostic findings of NBCCS in four patients were studied and compared with other reports in the Indian population. Early diagnosis of this syndrome is important for counseling of patients to prevent the life-long complications of this syndrome which includes the malignancy, oro-maxillofacial deformation, and destruction; this may be reduced if the diagnosis and treatment are made feasible at the earliest.

Keywords: Abnormalities; India; basal cell nevus syndrome; multiple; odontogenic cysts.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Case 1 is a 9-year-old girl showing (a) extraoral clinical photographs with hypertelorism (b) Palmar pits (c) Dermal nodules (d) Bifid rib (e) orthopantomogram revealing multiple radiolucent lesions (white asterisk)
Figure 2
Figure 2
Case 2 is of a 26-year-old male showing (a) extraoral clinical photographs with hypertelorism and depressed nasal bridge, multiple nevus, (b) plantar pits, (c) bifid ribs (d) orthopantomogram with multiple radiolucent lesions (white asterisk)
Figure 3
Figure 3
Case 3 is of a 33-year-old male showing (a) extraoral clinical photographs with hypertelorism, depressed nasal bridge, multiple nevus (b) plantar pits (c) no rib anomaly (d) orthopantomogram with multiple radiolucent lesions (white asterisk)
Figure 4
Figure 4
Case 4 is of a 28-year-old female showing (a) extraoral clinical photograph (b) palmar pits and elongated phalanges (c) no rib anomaly (d) PA skull X-ray (e) orthopantomogram with multiple radiolucent lesions (white asterisk)
Figure 5
Figure 5
H and E stained section of odontogenic keratocyst (×400)
See this image and copyright information in PMC

References

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    1. 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. - PubMed
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    1. Bree AF, Shah MR For the BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) Am J Med Genet Part A. 2011;155:2091–7. - PubMed

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