Basal cell nevus syndrome: clinical and genetic diagnosis.

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.

Inflammatory pseudotumor of the parotid gland.

Inflammatory pseudotumor is a term that refers to a reactive pseudoneoplastic disorder that can appear in different locations of the human body. The lung is the most frequently affected organ. The etiology is still unknown. It affects individuals of both sexes and of a wide range of ages. The diagnosis is still difficult and it is based on the histological examination of the lesions composed of four cell-types: histiocytes, myofibroblasts, plasma cells and lymphocytes. With regard to the treatment regimes there is no agreement. Treatment ranges from surgical excision to radiotherapy, chemotherapy or steroids. The purpose of this article is to report one case of inflammatory pseudotumor located in the parotid gland and to make a special point of the difficulty in arriving at a correct diagnosis in order to achieve the most adequate treatment.

Pseudotumor inflamatorio de glándula parótida / Inflammatory pseudotumor of the parotid gland

El término pseudotumor inflamatorio hace referencia a un proceso reactivo y pseudoneoplásico que puede aparecer en diferentes localizaciones del cuerpo humano. El pulmón es el órgano que se afecta con mayor frecuencia. Su etiología sigue siendo desconocida. Afecta a individuos de ambos sexos y con un amplio rango de edad. Su diagnóstico sigue siendo dificultoso y se basa en el examen histológico de las lesiones que están formadas por cuatro elementos fundamentalmente: histiocitos, miofibroblastos, células plasmáticas y linfocitos. A la hora de elegir el tratamiento no hay unanimidad y se incluye desde tratamiento quirúrgico de las lesiones hasta radioterapia, quimioterapia y esteroides. El propósito de este artículo es describir un caso de pseudotumor inflamatorio localizado en glándula parótida, su dificultad para llegar al diagnóstico correcto y realizar así el tratamiento más adecuado

Inflammatory pseudotumor is a term that refers to a reactive pseudoneoplastic disorder that can appear in different locations of the human body. The lung is the most frequently affected organ. The etiology is still unknown. It affects individuals of both sexes and of a wide range of ages. The diagnosis is still difficult and it is based on the histological examination of the lesions composed of four cell-types: histiocytes, myofibroblasts, plasma cells and lymphocytes. With regard to the treatment regimes there is no agreement. Treatment ranges from surgical excision to radiotherapy, chemotherapy or steroids. The purpose of this article is to report one case of inflammatory pseudotumor located in the parotid gland and to make a special point of the difficulty in arriving at a correct diagnosis in order to achieve the most adequate treatment