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

INTRODUCTION: 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. OBJECTIVE: 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. RESULTS: 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. CONCLUSIONS: 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.

Queratoquistes odontogénicos maxilares en paciente con síndrome de Gorlin. Descripción de un caso y revisión de la literatura / Maxillary odontogenic keratocysts in a Gorlin síndrome patient: Case report and literatura review

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.

Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up.

BACKGROUND Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome (GGS), is an inherited autosomal dominant disorder caused by mutations in the patched (PTCH) tumor-suppressor gene, which has high penetrance and variable phenotypic expressivity. In 1960, Gorlin and Goltz defined the condition by 3 main characteristics: multiple basal cell carcinomas, odontogenic keratocyst (OKC), and skeletal anomalies. Nowadays, many neurologic, ophthalmic, endocrine, and genital manifestations are known to be associated with this syndrome. Considering the complexity of the clinical manifestations, a multidisciplinary approach is necessary for the diagnosis and follow-up of patients with NBCCS. CASE REPORT We report the case of a 27-year-old woman who presented with multiple maxillary and mandibular OKCs, as well as mandibular dentigerous cysts, all detected by X-ray. The medical records of the patient reported other findings such as falx cerebri calcification, osteolysis in femoral bones, and focal bone alteration suggestive of simple bone cysts. Based on the presented manifestations, it was concluded that the patient had characteristics of NBCCS. A multidisciplinary approach was necessary, and odontological intervention was used in managing treatment of the jaw cysts. CONCLUSIONS In view of this combination of findings, it is of primary importance for dental surgeons and physicians to be able to recognize the signs and symptoms of NBCCS in order to achieve an early diagnosis and avoid the progression of oral cysts, the metastasis of skin lesions, and progression of other less frequent manifestations.

Síndrome de Gorlin-Goltz, actualización: a propósito de un caso en el Hospital Infantil de Morelia / Gorlin-Goltz syndrome update: apropos of a case at the Morelia Children Hospital

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.

The relevance of dental surgeon on Gorlin-Goltz syndrome.

Multiple odontogenic keratocysts could be linked to different conditions. Then, to achieve the correct diagnosis whether their presence is associated to a syndrome, some criteria must be followed. The present study aims to report a case of a 21 years-old male patient whose was referred with several radiolucent lesion on the maxilla-mandibular complex. The lesions were biopsied and the diagnosis of the histological exam hypothesized as odontogenic keratocyst. After complete evaluation, others abnormalities were also found such as calcification of falx cerebri, palmar and plantar pits, and multiple basal cell on feet. The patient was diagnosed with Gorlin-Goltz syndrome and was referred to other medical specialties to adequate follow-up. Dental surgeon represents an important role on correct diagnosis of the Gorlin-Goltz syndrome and could avoid further complications.

Phenotypic spectrum of a patient with Gorlin's syndrome and role of dermoscopy in the early detection of basal cell carcinomas.

Gorlin's syndrome is an autosomal dominant disorder, mainly characterized by the presence of multiple and early-onset basal cell carcinomas, odontogenic keratocysts and palmoplantar pits. We describe the case of a patient with clinical and imaging features of Gorlin syndrome, and highlight the role of dermoscopy in the early detection of basal cell carcinomas. In addition, we discuss the dermoscopic features of palmar pits.

Síndrome del nevo basocelular: presentación de dos casos y revisión de la literatura / Nevoid basal cell carcinoma syndrome: report of two cases and review of the literature

Los autores presentan dos casos de síndrome del nevo basocelular (SNBC), un raro desorden genético caracterizado por múltiples carcinomas basocelulares (CB), queratoquistes odontogénicos (QQO) mandíbulo-maxilares, alteraciones neurológicas y otras alteraciones menos frecuentes. Se describen dos casos. Un niño de 12 años, quien presentaba QQO en los maxilares, CB múltiples, alteraciones esqueléticas y otros trastornos, y una mujer de 27 años con QQO y CB múltiples. Se destaca la importancia del diagnóstico temprano en la consulta odontológica (AU)

Imaging modality correlations of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome: a family case report.

Multiple maxillary and mandibular cysts are principle features of nevoid basal cell carcinoma syndrome (NBCCS; Gorlin-Goltz syndrome). We present a family case report of NBCCS with odontogenic keratocyst where the findings on plain films, CT, clinical, and histopathologic examinations are compared and analyzed. The systemic manifestations included frontal bossing, odontogenic keratocyst, ectopic calcification in 1 patient, and bifid rib in 1 patient. CT examination displayed aspects of bone morphology not visible on the plain films. Odontogenic keratocyst diagnosis was confirmed by histopathological examination. The features identified by these combined clinical, imaging, and histologic findings are helpful in identifying an NBCCS patient, distinguishing keratocyst from others cysts or neoplasic lesions, and can therefore influence surgical management. NBCCS is a rare autosomal dominant cancer predisposition syndrome, which is important to recognize when a patient has multiple odontogenic keratocysts, because lifelong monitoring is essential for patient management.

Síndrome de Gorlin-Goltz. Síndrome del nevo baso-celular / Gorlin-Goltz syndrome. Basal cell nevus syndrome

Los autores describen los síntomas clínicos en tres sujetos de la misma familia, afectados por el síndrome del nevo basocelular. Se enfatiza la importancia de su conocimiento por parte del odontólogo, ya que su diagnóstico se puede establecer en base a los queratoquistes odontogénicos, sus características faciales, óseas y dermatológicas presentes en estos pacientes (AU)

Síndrome del nevo basocelular / Nevoid basal-cell syndrome

Los autores presentamos un enfoque clínico descriptivo del síndrome del nevo basocelular, incluyendo nuestra experiencia en dos casos clínicos de diferente sexo, detallando estudios radiográficos y técnicas quirúrgicas realizadas (AU)

Gorlin syndrome (naevoid basal cell carcinoma syndrome): prenatal detection in a fetus with macrocephaly and ventriculomegaly.

The Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly.