Síndrome de carcinoma nevoide de células basales: aspectos dermatológicos claves a propósito de un caso

Karen León Rodríguez; Sahara Escobar Vélez; Sofía Subiabre Chiong; Valentina Pineda Báez; Silvana Villalobos Pérez; Gabriel Aedo Inostroza

doi:10.5281/zenodo.20620920

Authors

Karen León Rodríguez Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile Author https://orcid.org/0009-0004-1826-6699
Sahara Escobar Vélez Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile Author https://orcid.org/0009-0009-9401-6081
Sofía Subiabre Chiong Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile Author https://orcid.org/0009-0007-3886-7418
Valentina Pineda Báez Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile Author https://orcid.org/0009-0007-8140-7118
Silvana Villalobos Pérez Escuela de Medicina, Facultad de Ciencias Médicas, Universidad de Santiago de Chile Author https://orcid.org/0009-0002-1501-9073
Gabriel Aedo Inostroza Dermatólogo, Servicio de Dermatología, Hospital El Pino, Chile Author https://orcid.org/0000-0002-9893-7824

DOI:

https://doi.org/10.5281/zenodo.20620920

Keywords:

Gorlin–Goltz Syndrome, Nevoid Basal Cell Carcinoma Syndrome, Basal Cell Carcinoma, Cutaneous Neoplasms

Abstract

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin–Goltz syndrome, is a rare multisystemic autosomal dominant genetic disorder. Due to its low prevalence, a high index of suspicion is required for early diagnosis and management. The syndrome is associated with an increased predisposition to the development of neoplasms, particularly basal cell carcinomas (BCCs) and odontogenic keratocysts, along with a wide range of multiorgan manifestations.

We report the case of a 53-year-old woman with no personal or family history of skin cancer who presented with multiple longstanding cutaneous lesions. Histopathological examination of biopsy specimens confirmed the presence of multiple BCCs. Since diagnosis, she has required multiple staged surgical excisions at different anatomical sites and remains under regular follow-up.

The dissemination of such cases highlights the importance of considering NBCCS in the differential diagnosis, as well as the need for a thorough clinical assessment based on detailed history-taking and comprehensive physical examination, complemented by appropriate ancillary studies, to ensure timely diagnosis and optimal management.

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