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01-12-2009 | Case Report

Basal cell nevus syndrome: clinical and genetic diagnosis

Authors: José A. García de Marcos, Alicia Dean-Ferrer, Susana Arroyo Rodríguez, Javier Calderón-Polanco, Francisco J. Alamillos Granados, Enrique Poblet

Published in: Oral and Maxillofacial Surgery | Issue 4/2009

Abstract

Introduction

Basal cell nevus syndrome (BCNS), also known as Gorlin–Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles. The disease exhibits a dominant autosomal hereditary trait, with implication of the human homologue of the Drosophila segment polarity Patched (PTCH) gene. BCNS is diagnosed on the basis of clinical and radiological criteria and can be confirmed by genetic study. The patient prognosis is very good, with normal life expectancy in most cases.

Methods

The present study reports two cases of BCNS with the presence of maxillo-mandibular keratocystic odontogenic tumors.

Results

One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.

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Title: Basal cell nevus syndrome: clinical and genetic diagnosis
Authors: José A. García de Marcos
Alicia Dean-Ferrer
Susana Arroyo Rodríguez
Javier Calderón-Polanco
Francisco J. Alamillos Granados
Enrique Poblet
Publication date: 01-12-2009
Publisher: Springer-Verlag
Published in: Oral and Maxillofacial Surgery / Issue 4/2009
Print ISSN: 1865-1550
Electronic ISSN: 1865-1569
DOI: https://doi.org/10.1007/s10006-009-0169-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Basal cell nevus syndrome: clinical and genetic diagnosis

Abstract

Introduction

Methods

Results

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Methods

Results

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