A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma / 中南大学学报(医学版)

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.

Epithelial-mesenchymal markers and their correlation with clinical aspects in odontogenic keratocysts / Marcadores epitélio-mesênquima e sua correlação com aspectos clínicos em lesões de ceratocisto odontogênico

ABSTRACT Objective: Odontogenic keratocysts have a high recurrence rate and aggressive clinical behavior. The event called epithelial-mesenchymal transition is a process in which the epithelial cell loses its epithelial characteristics and acquires properties typical of mesenchymal cells. Studies have already demonstrated that odontogenic keratocysts has expression of tumor markers, but the lack of clarification about its development mechanism and molecular composition makes the therapeutic options remain limited. The aim of this study is to evaluate the expression of epithelial-mesenchymal transition marker proteins in these lesions, correlating the expression of these proteins with clinical aspects of each case. Methods: Patients with odontogenic keratocysts diagnoses, treated by the Department of Oral and Maxillofacial Surgery of the Erasto Gaertner Hospital, Curitiba, Brazil in the period between 2016 and 2019 were evaluated by immunohistochemical analysis, to assess the expression of epithelial-mesenchymal transition markers (Vimentin, beta-catenin and E-cadherin) by qualitative analysis. Results: Eighteen patients were included, with a mean age of 43 years, and most of them were male. The mandible was more affected than the maxilla. No association between the clinical characteristics of the cysts and the immunohistochemical profile for epithelial-mesenchymal transition proteins was observed. Conclusion: The positivity of E-cadherin and negativity of vimentin demonstrates that its function is preserved. Loss of function of E-cadherin is associated with worse prognosis. The identification of the epithelial-mesenchymal transition process as a prognostic marker for odontogenic cysts and tumors could be an important tool for defining treatment.

RESUMO Objetivo: O ceratocisto odontogênico têm uma alta taxa de recorrência e comportamento clínico agressivo. O evento chamado transição epitelial-mesênquima (TEM) é um processo no qual a célula epitelial perde suas características epiteliais e adquire propriedades típicas das células mesenquimais. Estudos já demonstraram que o ceratocisto odontogênico tem expressão de marcadores tumorais, mas a falta de esclarecimento sobre seu mecanismo de desenvolvimento e composição molecular faz com que as opções terapêuticas permaneçam limitadas. O objetivo deste estudo é avaliar a expressão das proteínas marcadoras de transição epitelial-mesênquima nestas lesões, correlacionando a expressão destas proteínas com os aspectos clínicos de cada caso. Métodos: Os pacientes com diagnóstico de ceratocisto odontogênico, tratados pelo Serviço de Cirurgia Bucomaxilofacial do Hospital Erasto Gaertner, Curitiba, Brasil, no período entre 2016 e 2019, foram avaliados por análise imunohistoquímica, para avaliar a expressão dos marcadores transição epitelial-mesênquima (Vimentina, beta-catenina e E-cadherina). Resultados: Foram incluídos 18 pacientes, com idade média de 43 anos, e a maioria deles eram do sexo masculino. A mandíbula foi mais afetada do que a maxila. Não foi observada associação entre as características clínicas dos cistos e o perfil imuno-histoquímico das proteínas transição epitelial-mesênquima. Conclusão: A positividade da E-caderina e a negatividade da vimentina demonstram que a sua função está preservada. A perda da função da E-caderina está associada a um pior prognóstico. Identificar o processo da transição epitelial-mesênquima como um marcador de prognóstico para cistos e tumores odontogênicos pode ser uma ferramenta importante para definir o tratamento dessas lesões.

Expresión Inmunohistoquímica: Citoqueratinas CK19, CK14, β-Catenina y Ki67 en el Ameloblastoma y Queratoquiste Odontogénico / Immunohistochemical expression: Cytokeratins CK19, CK14, β-Catenin and Ki67 in Ameloblastoma and Odontogenic Keratocyst / Expressão imunohistoquímica: Citoqueratinas CK19, CK14, β-Catenina e Ki67 no ameloblastoma e queratocisto odontogênico

Resumen Introducción y objetivo: Los tumores y quistes odontogénicos son lesiones que se presentan en los maxilares al derivarse del tejido odontogénico embrionario. El ameloblastoma es un tumor benigno de origen epitelial, intraóseo y extraóseo caracterizado por su expansión e invasión local. Por otro lado, el queratoquiste odontogénico es una lesión quística, intraósea, con un comportamiento agresivo localmente destructivo y altamente recurrente. Se estudio la expresión de las proteínas CK19, CK14, β-Catenina, Ki-67 en las biopsias procesadas de amaloblastomas y queratoquistes odontogénicos durante el 2015-2018 del Servicio de Patología Oral y Maxilofacial de la facultad de Odontología de la Universidad Nacional de Colombia. Materiales y métodos: Estudio de serie de casos donde se tomaron bloques de parafina con diagnóstico histopatológico ya confirmado ameloblastoma (9 bloques): CK19 / 14, Ki67, β-Catenina y queratoquiste odontogénico (16 bloques): CK19 / 14, Ki67. Resultados: El promedio de Ki67 en el ameloblastoma y el queratoquiste odontogénico fue del 32% y 22%, respectivamente. Para el ameloblastoma y el queratoquiste odontogénico la CK19 / 14 fueron positivo para todos los casos. Finalmente, la β-Catenina marcó intensamente positiva en todos los casos de ameloblastoma. Conclusiones: Estas lesiones pueden diagnosticarse usando hematoxilina eosina, apoyándose en marcadores inmunohistoquímicos para corroborar el diagnóstico o cuando desee determinar metástasis en lesiones malignas. La CK14 / 19 son marcadores odontogénicos que determinan el origen de la lesión, la β-Catenina determina el comportamiento agresivo de la patología y el Ki67 determina el comportamiento, pronóstico y el tratamiento de la patología presente.

Abstract Introduction and objective: Odontogenic tumors and cysts are lesions that occur in the jaws when derived from embryonic odontogenic tissue. Ameloblastoma is a benign tumor of epithelial origin, intraosseous, characterized by its expansion and local invasion. On the other hand, odontogenic keratocyst is a cystic, intraosseous and extraosseous lesion, with aggressive local destructive behavior and highly recurrent. to find the expression of the CK19, CK14, β-Catenin, Ki-67 proteins in the processed biopsies of odontogenic amaloblastomas and keratocysts during the 2015-2018 Department of Oral and Maxillofacial Pathology of the Faculty of Dentistry of the National University of Colombia. Materials and methods: Case series study where paraffin blocks were taken with histopathological diagnosis already confirmed ameloblastoma (9 blocks): CK19 / 14, Ki67, β-Catenin and odontogenic keratocyst (16 blocks): CK19 / 14, Ki67. Results: The average Ki67 in ameloblastoma and odontogenic keratocyst was 32% and 22%, respectively. For the ameloblastoma and the odontogenic keratocyst, CK19 / 14 was positive for all cases. Finally, β-Catenin marked intensely positive in all cases of ameloblastoma. Conclusions: These lesions can be diagnosed using only hematoxylin eosin, relying on immunohistochemical markers to corroborate the diagnosis or when you want to determine metastases in malignant lesions. The CK14 / 19 are odontogenic markers that determine the origin of the lesion, β-Catenin determines the aggressive behavior of the pathology and the Ki67 determines the behavior, prognosis and treatment of the present pathology.

Resumo Introdução e objetivo: Tumores e cistos odontogênicos são lesões que ocorrem nas mandíbulas quando derivadas de tecido odontogênico embrionário. O ameloblastoma é um tumor benigno de origem epitelial, intraóssea, caracterizado por sua expansão e invasão local. Por outro lado, o ceratocisto odontogênico é uma lesão cística intraóssea, com comportamento destrutivo local agressivo e altamente recorrente. Objetivo: encontrar a expressão das proteínas CK19, CK14, β-Catenin, Ki-67 nas biópsias processadas de amaloblastomas odontogênicos e queratocistos durante o Departamento de Patologia Oral e Maxilofacial 2015-2018 da Faculdade de Odontologia da Universidade Nacional de Colombia. Materiais e métodos: Estudo de séries de casos em que foram realizados bloqueios de parafina com diagnóstico histopatológico de ameloblastoma já confirmado (9 blocos): CK19 / 14, Ki67, β-catenina e queratocisto odontogênico (16 blocos): CK19 / 14, Ki67. Resultados: O Ki67 médio no ameloblastoma e no ceratocisto odontogênico foi de 32% e 22%, respectivamente. Para o ameloblastoma e o ceratocisto odontogênico, a CK19 / 14 foi positiva para todos os casos. Finalmente, a β-catenina marcou intensamente positiva em todos os casos de ameloblastoma. Conclusões: Essas lesões podem ser diagnosticadas usando apenas hematoxilina eosina, utilizando marcadores imunohistoquímicos para corroborar o diagnóstico ou quando você deseja determinar metástases em lesões malignas. Os CK14 / 19 são marcadores odontogênicos que determinam a origem da lesão, a β-catenina determina o comportamento agressivo da patologia e o Ki67 determina o comportamento, o prognóstico e o tratamento da patologia atual.

Gorlin Goltz syndrome: a rare case report

Gorlin-Goltz syndrome is uncommon multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described. We report a case of 18 years old male patient having features of Gorlin Goltz syndrome. Gorlin-Goltz syndrome is characterized by multiple basal cell nevi or carcinomas, odontogenic keratocysts, palmar and/or plantar pits, calcification of the falx cerebri, and is associated with internal malignancies. It is important to know the major and minor criteria for the diagnosis and early preventive treatment of this syndrome.

Síndrome de Gorlin-Goltz. Diagnóstico molecular, nuevos tratamientos / Gorlin-Goltz syndrome. Molecular diagnosis, new treatments

Introducción: El síndrome de Gorlin-Goltz o síndrome de carcinoma de nevo basocelular es un desorden hereditario autosómico dominante que predispone principalmente a la proliferación de múltiples carcinomas basocelulares, queratoquistes odontogénicos y defectos del desarrollo, causados por la mutación del gen Patched localizado en el cromosoma 9. Presentación del caso: Se reporta un paciente con características de este síndrome, en la clínica de COMF de la UNAM. El diagnóstico fue basado en los estudios clínicos, imagenológicos y moleculares. Conclusiones: El conocimiento de esta enfermedad puede orientarnos a la sospecha diagnóstica de lesión quística o premaligna en forma oportuna, lo que permite prevenir complicaciones y brindar un tratamiento integral para así mejorar la calidad de vida de este tipo de pacientes (AU)

Introduction: Gorlin-Goltz syndrome or cell-based nevus carcinoma syndrome is an autosomal dominant inherited disorder that predisposes mainly to the proliferation of multiple basal cell carcinomas, maxillary keratocysts and developmental defects, caused by the mutation of the Patched gene located on chromosome 9. Case presentation: A patient with specific characteristics compatible with this syndrome was reported in the COMF Department of the UNAM. The diagnosis was based on clinical studies, radiology and genetic studies. Conclusions: Knowledge of this problem can guide us to the diagnostic suspicion in a timely manner, thus preventing complications, and to provide an improved integral treatment of the quality of life of this type of patients (AU)

Queratoquiste Odontogénico en un Paciente con Displasia Cleidocraneal: reporte de un Caso / Odontogenic Keratocyst in a Patient with Cleidocranial Dysplasia: case Report

RESUMEN: La displasia cleidocraneal (DCC), es un trastorno autosómico dominante poco común, que involucra principalmente a los huesos que se osifican por vía membranosa; afectando el cierre de fontanelas craneales y el desarrollo de las clavículas, además de anomalías dentales y vertebrales. El objetivo de este manuscrito fue reportar el caso de una paciente con DCC que presentó un queratoquiste odontogénico (QQO) intrasinusal. Presentamos el caso de una paciente de 81 años, diagnosticada en su niñez con DDC, que consultó por un desajuste protésico y molestias en relación a la zona del seno maxilar derecho. Clínicamente se observó desajuste de la prótesis y aumento de volumen de márgenes poco definidos en la zona maxilar derecha, color rosa coral; que se extendía por todo el margen hemimaxilar derecho hasta el fondo de vestíbulo; doloroso a la palpación, con un mes de evolución. Se solicitó CBCT, con el que se pudo verificar la presencia de un desarrollo tumoral de contenido similar a dentículos, ubicado en la totalidad del seno maxilar derecho; extendiéndose hasta el piso de la cavidad nasal y orbitaria. Se estableció la hipótesis diagnóstica de "odontoma compuesto". Se le intervino quirúrgicamente, bajo anestesia general, realizándose una excisión de la lesión; la que era de márgenes definidos, con cambios de coloración en tonos oscuros, con la inclusión de tres piezas dentarias; de aspecto maligno. Se logró enucleación completa, dejando remanente óseo limpio. La pieza fue enviada a estudio histopatológico. En informe histopatológico, describió la presencia de una lesion quistica con pared compatible con queratoquiste.

ABSTRACT: Cleidocranial dysplasia (CCD) is an uncommon autosomal dominant disorder that mainly involves bones that ossify via the membrane, affecting the closure of cranial fontanels and the development of the clavicles, as well as presenting dental and vertebral anomalies. The aim of this manuscritpt was to report a case of a patient with CCD who presented an intrasinusal odontogenic keratocyst.We present an 81-year-old female patient, diagnosed with this syndrome in childhood, who comes to our service for a prosthetic misalignment and discomfort of the right maxillary sinus area. Clinically, there was a mismatch of the prosthesis and an increase in the volume of undefined margins under it, coral pink color, which extended all over the right hemimaxillary margin to the bottom of the vestibule, painful on palpation, with a one month evolution. A CBCT was requested, which revealed the presence of a tumor development with content similar to denticles, located in the entire right maxillary sinus, extending to the floor of the nasal and orbital cavity. The diagnostic hypothesis of "compound odontoma" was established. The patient was operated on in the central ward, under general anesthesia performing the excisional biopsy of the lesion, which showed changes in coloration in dark tones, with defined edges, with the inclusion of three teeth showing malignancy aspects. Complete enucleation was achieved, leaving tumor-free clean bone remnant. In a histopathological report, the presence of a keratocyst wall was described, which is not very compatible given the appearance of the lesion, the presence of the dental pieces included in it, and the behavior of the lesion.

Expresión inmunohistoquímica de ki-67 y p53 en tumor odontogénico queratoquístico en comparación con ameloblastoma multiquístico / Immunohistochemical expression of Ki-67 and p53 in odontogenic keratocysts in comparison with ameloblastomas

Introducción: Ha sido descrita la inmunodetección de p53 y Ki-67 en el tumor odontogénico queratoquístico (TOQ) y en ameloblastomas mutiquísticos (AM). Sin embargo, hay escasa y contradictoria evidencia respecto de la comparación de estos dos marcadores entre estas neoplasias. Su estudio podría contribuir a comprender las diferencias que presentan en su comportamiento clínico y ser un complemento discriminatorio al momento de definir tratamiento, pronóstico y recidiva. Objetivo: Comparar el recuento de inmunomarcación de p53 y Ki-67 en células epiteliales de TOQ y AM, presentes en el registro de biopsias del Instituto de Referencia de Patología Oral (IREPO), de la Facultad de Odontología de la Universidad de Chile entre los años 2000-2011. Metodología: Estudio observacional de corte transversal. Se estudiaron mediante inmunohistoquímica 8 casos de TOQ y 6 casos de AM con diagnóstico histopatológico según la clasificación de la OMS del 2005. Las muestras se encontraban en bloques de parafina, fijadas en formalina. Resultados: Los datos mostraron una distribución normal en cuanto al número de células positivas para ambos inmunomarcadores. No hubo diferencias estadísticamente significativas en la inmunomarcación de Ki-67 y p53 para TOQ y AM. Sin embargo, en ambas neoplasias, la inmunomarcación de p53 fue mayor respecto a Ki-67, con una diferencia estadísticamente significativa tanto en TOQ (p=0.0134) como en AM (p=0.0079). Conclusión: Los resultados sugieren que la inhibición de apoptosis predominó en ambos tumores por sobre la multiplicación celular. Estas diferencias podrían relacionarse con su potencial de crecimiento.

Introduction: p53 and Ki-67 immunodetection have been described in the keratocystic odontogenic tumor (TOQ) and multicystic ameloblastomas (AM). However, there is limited and contradictory evidence regarding the comparison of these two markers between these neoplasias. Their study could help to understand the differences that occur in their clinical behavior and be a complement when defining discriminatory treatment, prognosis and recurrence. Objective: To compare the immunomarking count of p53 and Ki-67 in epithelial cells in AM and TOQ present in the biopsies registered at the Oral Pathology Reference Institute (IREPO), Faculty of Dentistry, University of Chile from 2000 to 2011. Methods: Cross-sectional observational study. 8 cases of TOQ and 6 cases of AM with histopathological diagnosis according to the WHO classification of 2005 were studied using immunohistochemistry. The samples were formalin-fixed and paraffin-embedded. Results: The data showed a normal distribution in the number of positive cells for both immunomarkers. There were no statistically significant differences in the Immunohistochemical expression of Ki-67 and p53 of TOQ and AM. However in both tumors, the immunohistochemical expression of p53 was higher compared to Ki-67, with a statistically significant difference in TOQ (p=0.0134) and AM (p=0.0079). Conclusion: The results suggest that inhibition of apoptosis in both tumors predominated over cell multiplication. These differences may be related to their growth potential.

Treatment of Keratocystic Odontogenic Tumors in Nevoid Basal Cell Carcinoma Syndrome

Nonsyndromic multiple odontogenic keratocysts: A case report.

Multiple Odontogenic keratocysts (OKCs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (NBCCS). NBCCS is a genetic disorder transmitted by an autosomal dominant gene with variable expressivity, which is important to recognize when a patient has multiple OKCs. It is linked with mutation in the PTCH gene. Partial expression of the gene may result in occurrence of only multiple OKC. We hereby report a case of multiple OKCs in a non – syndromic patient and highlight the general practitioner the importance of diagnosing the disease and enforcing a strict long-term follow-up whenever such a case is identified.

Sporadic Cutaneous Keratocyst without Nevoid Basal Cell Carcinoma Syndrome: Report of 1 Case

A cutaneous keratocyst is very rare and is ordinarily associated with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome. NBCCS is a rare autosomal-dominant disorder that results from the mutation in the patched homologue 1 (PTCH1) gene located on chromosome 9q22.3, with high penetrance and variable expressivity. NBCCS demonstrates multisystem manifestations such as multiple basal cell carcinomas in early age, jaw cysts and pits of the hands and feet. Cutaneous keratocysts are characteristically lined by festooned keratinized squamous epithelium with parakeratosis. The cystic wall contains neither granular cell layer nor skin appendages. To the best of our knowledge, only two cases of cutaneous keratocysts not associated with NBCCS have been reported to date. We report one another case of a histologically confirmed cutaneous keratocyst in a 50-year-old female without a family history and clinical features of NBCCS.

Non-syndromic multiple odontogenic keratocysts: report of case / Keratocistos múltiplos não-sindrômicos: relato de caso

Odontogenic keratocysts (OKCs) are epithelial developmental cysts which were first described byPhillipsen in 1956. Lesions are frequently multiple and a component of Nevoid Basal Cell CarcinomaSyndrome (NBCCS) (Gorlin Goltz syndrome/Bifid rib syndrome). We hereby report a case of multipleOKCs in a non – syndromic patient and highlight the general practitioner the importance of diagnosingthe disease and enforcing a strict long-term follow-up whenever such a case is identified.

Os keratocistos odontogênicos são cistos de desenvolvimento que foram descritos primeiramentepor Phillipsen, em 1956. As lesões são frequentemente múltiplas, sendo componentes da síndromedo carcinoma nevoide de células basais (síndrome de Gorlin, síndrome das costelas bífidas).Descreve-se um caso de keratocistos múltiplos em paciente não-sindrômico, enfatizando-se aimportância do clínico geral no diagnóstico da doença e reforçando a necessidade de umapreservação a longo prazo tão logo a doença seja diagnosticada.

Sindrome de goliin: a proposito de n caso / Gorlin’s Syndrome: A case

El llamado Síndrome de Gorlin es un raroy poco frecuente desorden clínico-patológico hereditario de carácter autosómico dominante bien reconocido y expresión variable. El Síndrome se caracteriza por múltiples nódulos cutáneos en piel no expuesta al sol y también en la piel de cara que tienden a volverse malignos con la edad (nevos de células basales), queratoquistes odontogénicos múltiples, hipertelorismo, amplia raíz nasal entre otras. 1, 2 Nos trazamos como objetivo, actualizar el tema, así como presentar un caso diagnosticado como síndrome de Gorlin, en el departamento de Cirugía Máxilofacial del Hospital General Calixto García.

The so called Gorlin’s Syndrome is a rare infrequent clinical pathological disorder with a well known and multi expression hereditary autosomic dominant characteristic pattern. The syndrome is characterized by multiple nodules in non exposed skin and facial skin which tend to become malignant with age (basal cell moles), multiple odontogenic keratocysts, and hypertelorism, a wide nose base among others. Our main purpose is to update the subject as well as to present the case diagnosed as a Gorlin’s Syndrome in the plastic surgery department of CalixtoGarciaHospital.

A Case Report of Multiple odontogenic keratocysts associated with basal cell nevus syndrome

The basal cell nevus syndrome is a well recognized entity, the major symptoms of which are basal cell nevi, multiple jaw cysts, skeletal anomalies, and ectopic calcification. The syndrome follows a hereditary pattern, which is characterized by a highly penetrant, autosomal dominant gene with multiple and variable effects. The patient often has a characteristic face, with frontal and temporoparietal bossing, which results in an increased cranial circumference. The eyes may appear widely separated, and 40 percent of patients have true ocular hypertelorism. Jaw cysts are one of the most constant features of the syndrome and are present in at least 75 percent of the patients. The cysts are odontogenic keratocysts and frequently multiple. Radiographically, the cysts in patients with basal cell nevus syndrome do not differ significantly from isolated keratocysts. The cysts in patients with this syndrome are often associated with the crowns of unerupted teeth; on radiographs they may mimic dentigerous cysts. We report a case of multiple odontogenic keratocysts associated with basal cell nevus syndrome with the literature of review.