Gorlin-Goltz syndrome: A rare case report
Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder with a high degree of penetrance and variable expressivity. It is a rare phakomatosis characterized by multiple odontogenic keratocysts (OKCs), bifid ribs, and other abnormalities. In the case of GGS, it is of great importance to make an early diagnosis since the severity of complications such as maxillofacial deformities related to the jaw cysts can be avoided.

A male patient of 25 years old came with a chief complaint of swelling in the right face region since 2-3 months and reduced mouth opening since 10-12 days. Swelling slowly progressed into the present size which caused facial asymmetry and the reduction in mouth opening hindered the masticatory functions.

On general examination, the patient was moderately built and nourished and all the vital signs were normal. On extraoral examination, there was a diffuse swelling involving right lower and middle one-third of the face, which have caused the facial asymmetry.

On palpation, the swelling was firm in consistency, nontender, and there was no local rise in temperature. On intraoral examination, mouth opening was reduced to 21 mm. Multiple missing teeth in relation to 13, 22, 23, 33, 37, 43, 44, and 48 and multiple retained deciduous teeth in relation to 62, 63, 83, and 84 were present which put the authors in a diagnostic dilemma.

As multiple jaw cysts were present a suspicion whether this is associated with a syndrome was raised; hence, further investigations were carried out, which revealed the presence of bifid rib in AP chest view and bridging of sella turcica in lateral skull view. CT brain was advised to rule out calcification in the falx cerebri, which revealed the absence of any calcification. Thus, a final diagnosis of GGS was acheived.

The enucleation of the jaw cysts in the maxillary and mandibular region was done. Histological examination revealed epithelial proliferation of the stratified squamous epithelium and luminal proliferation.


Multiple daughter cysts are present. ×40 magnification revealed the presence of parakeratinized epithelium, with an increased number of cell thickness of 8–12 layers. Tombstone appearance of the basal cell layers was also seen. All these findings revealed the presence of multiple OKC which emphasized our diagnosis of GGS.

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