Gorlin-goltz syndrome

Abstract

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

Keywords: Carcinoma; Gorlin-Goltz syndrome; Odontogenic keratocyst.

Figure 1

Frontal bossing as well as mandibular prognathism

Figure 2

Palmer pits in both hands

Figure 3

lower left first and second premolars as well as lower left canine were missing. Neither any swelling nor any pus discharge was present intraorally

Figure 4

Orthopantomogram with multiple multilocular radiolucent lesions in the maxilla and mandible

Figure 5

Postero-Anterior skull with calcification of Bilamellar falx cerebri