A rare case of Gorlin–Goltz syndrome

The Gorlin–Goltz syndrome (the Nevoid basal cell carcinoma syndrome (NBCCS)) is reviewed as a rare autosomal dominant syndrome caused by gene mutations located on chromosome arm 9 q. It has a variety of presentations and is characterized by basal cell carcinomas (BCC), odontogenic keratocysts (OKCs), and ectopic calcifications of the falx cerebri or plantar pits. The diagnosis depends mainly on a number of minor and major criteria. This syndrome can be misdiagnosed, which makes its early detection important in preventing consensual complications.

In our case a 50-year-old male was reported and presented with one minor and four major criteria of the Gorlin–Goltz syndrome, the first presentation was pathologically proven facial basosquamous carcinoma post-surgical excision, subsequent contrast-enhanced maxillofacial MRI as well as CT Head, Neck revealed OKCs of the maxillary and mandible as well as calcifications of the falx and vertebral fusion with palmar pits on physical examination with definite diagnosis of Gorlin–Goltz syndrome.

Gorlin–Goltz syndrome is an unusual inherited multi-systemic syndrome, which may be misdiagnosed. It is crucial that health care specialists have the necessary knowledge of the fundamental features of NBCC syndrome and the determination of its associated disorders. All patients should undergo genetic screening as well as their first-degree relatives. Morbidity can be avoided by early treatment of BCC and OKCs to avoid deformities of surrounding dermal and osseous structures.