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2020, Number 3

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Rev ADM 2020; 77 (3)

Gorlin-Goltz syndrome. Molecular diagnosis, new treatments

Olmedo-Cueva S, Velazco TM, Castilla CH, Salgado-Chavarría F

Language: Spanish
References: 23
Page: 162-167
PDF size: 307.32 Kb.


ABSTRACT

Introduction: Gorlin-Goltz syndrome or cell-based nevus carcinoma syndrome is an autosomal dominant inherited disorder that predisposes mainly to the proliferation of multiple basal cell carcinomas, maxillary keratocysts and developmental defects, caused by the mutation of the Patched gene located on chromosome 9. Case presentation: A patient with specific characteristics compatible with this syndrome was reported in the COMF Department of the UNAM. The diagnosis was based on clinical studies, radiology and genetic studies. Conclusions: Knowledge of this problem can guide us to the diagnostic suspicion in a timely manner, thus preventing complications, and to provide an improved integral treatment of the quality of life of this type of patients.


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