Gorlin-Goltz Syndrome: An Incidental Finding of a Rare Entity

Abstract

Gorlin-Goltz syndrome (GGS) is a rare hereditary disease characterized by multiple basal cell carcinomas, odontogenic keratocyst (OKCs) and musculoskeletal malformations. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and mutations in the human patched gene (PTCH1 gene). Here, we report a rare case of an incidental finding of GGS in an 18-year-old male patient presenting multiple OKCs, calcification of the falx cerebri, and bifid rib.

Keywords: Bifid rib; Gorlin–Goltz syndrome; Keratocystic odontogenic tumor; Odontogenic keratocyst.

Fig. 1

Intra-Oral image showing a carious tooth i.r.t 36

Fig. 2

Polydactyly in the right hand

Fig. 3

Orthopantomograph revealing osteolytic lesions on the right side of the maxilla and on the bilateral sides of the mandible. Root resorption is seen i.r.t 38 and 47. Mesio-angularly impacted tooth i.r.t 48

Fig. 4

Image showing CBCT reconstruction of the lesions of the jaw

Fig. 5

A Chest radiograph showing the presence of a bifid rib on the left side. B Computed tomography scan of the skull showing calcification of the falx cerebri

Fig. 6

Photomicrograph showing a cystic lumen lined by wavy para-keratinized epithelium of uniform thickness supported by connective tissue capsule. The lumen is seen filled with keratin debris

Fig. 7

Orthopantamograph of 6 months follow-up