RESUMEN
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.
Asunto(s)
Síndrome del Nevo Basocelular/genética , Síndrome del Nevo Basocelular/patología , Neoplasias Maxilomandibulares/genética , Neoplasias Maxilomandibulares/patología , Niño , Cromosomas Humanos Par 9 , Codón sin Sentido , Femenino , Mutación del Sistema de Lectura , Mutación de Línea Germinal , Humanos , Masculino , Quistes Odontogénicos/patología , Receptores Patched , Receptor Patched-1 , Receptores de Superficie Celular/genéticaAsunto(s)
Neoplasias de los Músculos/diagnóstico , Sarcoma de Células Claras/diagnóstico , Músculo Temporal/patología , Diagnóstico Diferencial , Fascia/patología , Reordenamiento Génico/genética , Humanos , Hibridación Fluorescente in Situ , Imagen por Resonancia Magnética , Neoplasias de los Músculos/genética , Proteína EWS de Unión a ARN/análisis , Proteína EWS de Unión a ARN/genética , Sarcoma de Células Claras/genéticaRESUMEN
INTRODUCTION: Orbital floor fractures are usually the result of mechanical trauma. Orbital emphysema tends to develop in fractures affecting the paranasal sinuses and walls of the orbit. CLINICAL CASE: We report the case of a 35-year-old male who suffered an orbital floor fracture with associated orbital emphysema as a result of nose blowing. DISCUSSION: Only one other similar case has been found in the literature.