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Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families



Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition characterized by the development of odontogenic keratocyst (OKC), basal cell carcinomas and palmar–plantar pits among other conditions. Reports about Latin American population are scarce.


To analyze the clinical, radiographic, histopathologic and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome.

Material and methods

After histopathologic diagnosis of OKC, notified consent was requested and evaluation of the affected patients and their families was done.


Two families appeared to have only one affected adolescent, and both of them were considered de novo cases. In the third family, three affected members participated in this study, with an autosomal dominant presentation. All affected patients had OKC and palmar pits. Basal cell carcinomas were present only among adult patients. All examined patients were from Latin American ethnic groups.


Patients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas.

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Data availability

The anonymized data evaluated during the present study will be available from the corresponding author upon reasonable request.


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We thank all the families that participated in this study. This research has been supported by grant PRI-ODO 016/05 from the Faculty of Dentistry of the University of Chile.

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Correspondence to Ana Ortega-Pinto.

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This work is part of a research project approved by the Ethics Committee of the Faculty of Dentistry of the University of Chile.

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Each patient and in the case of children their parents signed an informed consent authorizing their participation. Young people between 12 and 18 years of age signed an informed assent.

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Castillo-Tobar, A., Urzúa, B., Tirreau, V. et al. Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families. Oral Radiol (2022).

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  • Basal cell carcinoma
  • Keratocyst
  • Nevoid basal cell carcinoma syndrome