ABSTRACT
Los queratoquistes maxilares son frecuentes en pacientes con síndrome de Gorlin. Su tratamiento es debatido por su alta tendencia a la recidiva. En los últimos años la cirugía endoscópica nasosinusal ha adquirido importancia en el manejo de esta patología. Exponemos en caso de un varón de 16 años afecto de este síndrome con queratoquistes maxilares donde se realiza un abordaje combinado, endonasal y transoral.
Maxillary keratocysts are frequent in Gorlin Syndrome patients. Its treatment is discussed due to the high tendency to recurrence. In the last years the sinonasal endoscopic surgery has become an important tool in the management of this pathology. We report a 16 years old boy with Gorlin Syndrome and maxillary keratocysts treated with a trans-nasal endoscopic and intra-oral combined approach.
Subject(s)
Humans , Male , Adolescent , Basal Cell Nevus Syndrome/surgery , Maxillary Diseases/surgery , Odontogenic Cysts/surgery , Basal Cell Nevus Syndrome/diagnostic imaging , Maxillary Diseases/diagnostic imaging , Odontogenic Cysts/diagnostic imaging , Tomography, X-Ray Computed/methods , Endoscopy/methodsABSTRACT
Este síndrome fue escrito en 1960 por Robert J Gorlin, patólogo bucalinvestigador formado en Minnesota y por Robert W Goltz, dermatólogo. Es un trastorno autosómico dominante ocasionado por el gen Patched 1 (PTCH1) que se ubica en el cromosoma 9q223, caracterizado por defectos en el desarrollo y alta predisposición al cáncer. La prevalencia es de 1/56,000 y 1/221,000 pacientes. El padecimiento se caracteriza por desarrollo de carcinomas basocelulares, queratoquistes odontogénicos y malformaciones esqueletales. Debido a su alta predisposición al desarrollo de carcinomas basocelulares agresivos, debe diagnosticarse temprana y oportunamente para un pronóstico favorable.
Robert Gorlin a mouth researcher trained pathologist Minnesota andRobert Goltz a dermatologist described this syndrome in 1960. It is anautosomal dominant disorder, caused by the Patched 1 gene (PTCH1)located on chromosome 9q223 characterized by developmental defectsand a high predisposition to cancer. The incidence is 1/56,000 and1/221,000 patients. The condition is characterized by the developmentof basal cell carcinomas, odontogenic keratocystic and skeletalmalformations. Due to its high predisposition to the development ofaggressive basal cell carcinomas should be early and timely diagnosisfor a favorable prognosis.
Subject(s)
Humans , Male , Adolescent , Dental Care for Chronically Ill/methods , Basal Cell Nevus Syndrome/diagnostic imaging , Basal Cell Nevus Syndrome/genetics , Basal Cell Nevus Syndrome/pathology , Chromosomes, Human, Pair 9/genetics , Dental Service, Hospital , Mexico , Oral Manifestations , Prognosis , Basal Cell Nevus Syndrome/epidemiologyABSTRACT
To report a case of a patient with many of the common manifestations of Gorlin's syndrome, a rare inherited condition. A 26-year-old female with longstanding left hip pain was referred for bone scintigraphy to find the cause of pain. The findings on bone scintigraphy as well as prior radiographic studies illustrated many of the defining features of Gorlin's syndrome, i.e. jaw keratocysts, falcine calcifications, short and deformed ribs, Sprengel deformity and a sclerotic bone lesion. The past medical history also revealed dermatologic, cardiac and gynecological findings related to the syndrome. Our case highlights the multisystemic involvement of Gorlin's syndrome, based particularly on the skeletal findings. Practicing physicians, including imaging specialists, should be familiar with these findings to reach the diagnosis