Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones

Abstract

Background: Gorlin syndrome, also known as Gorlin-Goltz syndrome (GGS) or basal cell nevus syndrome (BCNS) or nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant familial cancer syndrome. It is characterized by the presence of numerous basal cell carcinomas (BCCs), along with skeletal, ophthalmic, and neurological abnormalities. It is essential to anticipate the diagnosis by identifying the pathology through the available diagnostic tests, clinical signs, and radiological manifestations, setting up an adequate treatment plan.

Main body: In the first part, we searched recent databases including MEDLINE (PubMed), Embase, and the Cochrane Library by analyzing the etiopathogenesis of the disease, identifying the genetic alterations underlying them. Subsequently, we defined what are, to date, the major and minor clinical diagnostic criteria, the possible genetic tests to be performed, and the pathologies with which to perform differential diagnosis. The radiological investigations were reviewed based on the most recent literature, and in the second part, we performed a review regarding the existing jawbone protocols, treating simple enucleation, enucleation with bone curettage in association or not with topical use of cytotoxic chemicals, and "en bloc" resection followed by possible bone reconstruction, marsupialization, decompression, and cryotherapy.

Conclusion: To promote the most efficient and accurate management of GGS, this article summarizes the clinical features of the disease, pathogenesis, diagnostic criteria, differential diagnosis, and surgical protocols. To arrive at an early diagnosis of the syndrome, it would be advisable to perform radiographic and clinical examinations from the young age of the patient. The management of the patient with GGS requires a multidisciplinary approach ensuring an adequate quality of life and effective treatment of symptoms.

Keywords: Basal cell carcinoma; Enucleation; Gorlin-Goltz syndrome; Marsupialization; Odontogenic keratocysts; Palm-plantar pits; Protein patched homolog 1; “En bloc” resection.

Fig. 1

SHH signaling pathway. Hh receptor PTC inhibits SMO signaling via an unknown mechanism, in the absence of the Hh ligands, and Gli molecules, processed into repressor forms, turn off the Hh-signaling pathway (a). PTC is unable to inhibit SMO in the presence of Hh. Gli molecules, processed to active forms (GliA), activate Hh target genes (b). Abbreviations: Gli glioma-associated oncogene, Gli1 glioma-associated oncogene 1, GliA glioma-associated oncogene activator, GliR glioma-associated oncogene repressor, Hh hedgehog, SMO smoothened, PTC patched, PTCH1 protein patched homolog 1

Fig. 2

Sagittal view: wide unilocular oval cystic lesion of the left retromolar trigone. The lesion measures 40 mm and shows a sclerotic margin. The anterosuperior cortex is resorbed. The mandibular canal is separated from the lesion by a thin bone layer

Fig. 3

Coronal view

Fig. 4

Axial view

Fig. 5

3D reconstruction of the keratocyst