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Maxillofacial Plastic and Reconstructive Surgery

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Open Access 01-12-2022 | Basalioma | Review

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

Authors: Francesco Spadari, Federica Pulicari, Matteo Pellegrini, Andrea Scribante, Umberto Garagiola

Published in: Maxillofacial Plastic and Reconstructive Surgery | Issue 1/2022

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.

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Title: Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones
Authors: Francesco Spadari
Federica Pulicari
Matteo Pellegrini
Andrea Scribante
Umberto Garagiola
Publication date: 01-12-2022
Publisher: Springer Nature Singapore
Keywords: Basalioma
Basalioma
Basalioma
Basalioma
Published in: Maxillofacial Plastic and Reconstructive Surgery / Issue 1/2022
Electronic ISSN: 2288-8586
DOI: https://doi.org/10.1186/s40902-022-00355-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Main body

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Main body

Conclusion

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