Sebaceoma. Reporte de un caso / Sebaceoma. Case report

RESUMEN El sebaceoma es un tumor de las glándulas sebáceas. Vinculado a una posible alteración en la vía de señalización Wnt/beta-catenina. Se caracteriza clínicamente por ser una lesión exofítica, más comúnmente de aparición solitaria y amarillenta. Cuando en un mismo paciente los tumores son múltiples debemos descartar la presencia del síndrome de Muir-Torre, un trastorno asociado a la presencia de neoplasias malignas internas. En la histopatología, el diagnóstico diferencial se realizaprincipalmente con el adenoma sebáceo, teniendo en cuenta el porcentaje de células germinativas o inmaduras en los lóbulos. El tratamiento de elección es la extirpación quirúrgica, aunque también se puede emplear la electrodesecación, entre otros. Se decide reportar el caso de una paciente femenina con un tumor sebáceo de poca frecuencia, haciendo una revisión de las características clínicas e histopatológicas que nos ayuden a disminuir las dificultades en el diagnóstico.

ABSTRACT Sebaceoma is a rare sebaceous gland tumor, named by Troy and Ackerman in 1984. A possible alteration in the Wnt / beta-catenin signaling pathway has been linked to its etiology and would play an important role in genesis of some tumors, including sebaceous. It is clinically characterized by being an exophytic lesion, most commonly of a solitary, yellowish appearance, which appears in seborrheic areas, although the symptoms can be very heterogeneous. When tumors are multiple in the same patient, we must rule out the presence of Muir-Torre syndrome, an autosomal dominant disorder that is associated with the presence of internal malignancies. In Sebaceoma dermoscopy, an amorphous yellowish erythematous area is generally found, which suggests the sebaceous etiology of the lesion, but currently the definitive diagnosis can only be confirmed with histopathology. The differential diagnosis is made mainly with sebaceous adenoma, taking into account the percentage of germ cells or immature lobes, being less than 50% in sebaceous adenoma and more than 50% in sebaceoma, the latter also tends to be of greater size and depth. The treatment of choice is surgical removal, although electrodesiccation, cryotherapy, or curettage can also be used. It was decided to report the case of a female patient with an infrequent sebaceous tumor, making a review of the clinical and histopathological characteristics that help us decrease the difficulties in diagnosis.

Sebaceoma: hallazgos dermatoscópicos a propósito de dos casos / Sebaceoma: dermatoscopic findings at purpose of two cases

El sebaceoma es una neoplasia sebácea benigna inusual, que inicialmente se denominaba epitelioma sebáceo, lo que generaba confusión respecto a su biología tumoral, dado que histopatológicamente no presenta diferenciación suficiente como el adenoma sebáceo y tampoco es tan indeferenciado como el carcinoma sebáceo. Su diagnóstico precoz tiene gran relevancia, dado que, junto con el adenoma sebáceo y el carcinoma sebáceo, tienen una asociación directa con el síndrome de Muirr-Torre y, por lo tanto, con el desarrollo de cáncer de colon, endometrio, entre otros. En este punto, el uso de la dermatoscopia es muy importante. Considerando los pocos reportes en la literatura sobre la dermatoscopia en sebaceomas, presentamos dos casos clínicos en adultos, donde se destaca la presencia de estructuras amarillas homogéneas y vasos en corona o arboriformes.

Sebaceoma is an unusual benign sebaceous neoplasm, initially known as sebaceous epithelioma, which generated confusion regarding its tumor biology, given that it is histopathologically less differentiated than sebaceous adenoma, but with a higher differentiation than sebaceous carcinoma. Early diagnosis becomes relevant, given that together with sebaceous adenoma and sebaceous carcinoma, there is a direct association with Muirr-Torre syndrome and therefore the development of colon and endometrial cancer, among others. Because of this, the use of dermatoscopy becomes very important. Given the few reports in the literature on dermatoscopy in sebaceomas, we present two clinical cases, where the presence of homogeneous yellow structures and crown or arboriform vessels stands out.

Carcinoma sebáceo asociado al síndrome de Muir-Torre: a propósito de un caso / Sebaceous carcinoma associated with Muir-Torre syndrome: report of a case

El Carcinoma Sebáceo (CS) es una neoplasia maligna, poco frecuente, formada por células que muestran una diferenciación hacia el epitelio sebáceo. Generalmente, se presenta en promedio a los 70 años de edad, es más frecuente en mujeres y principalmente en raza asiática. Presentamos el caso de una paciente de sexo femenino de 69 años, con antecedentes familiares de múltiples cánceres, cáncer de mama y la aparición de numerosos adenomas y carcinomas sebáceos, cuadro compatible con un Síndrome de Muir-Torre (SMT). El 75% de los CS se localizan en la región ocular y el 25% es de ubicación extra-ocular. El de ubicación ocular, se caracteriza por un comportamiento agresivo, con diseminación directa y alto potencial de metástasis regional y a distancia. Los tumores extraoculares generalmente son menos agresivos y se localizan principalmente en cabeza y cuello. La patogénesis es incierta, pero los procesos inflamatorios crónicos, la radiación ultravioleta y la radioterapia favorecerán su desarrollo. El CS es un tumor versátil, que se presenta con diferentes aspectos clínicos y distintos patrones histológicos de crecimiento, que retardan el diagnóstico definitivo. El CS es uno de los marcadores cutáneos diagnósticos del SMT, que es una enfermedad genética asociada a neoplasias viscerales. Por lo tanto, los pacientes con CS deben ser cuidadosamente valorados, realizándose una historia oncológica personal y familiar adecuada. El tratamiento de elección es la cirugía con márgenes amplios.

The Sebaceous Carcinoma (SC) is an uncommon malignant tumor formed by cells that show differentiation toward sebaceous epithelium. It usually occurs in women of average at 70 years of age. We report a case of a 69 years old female with a family history of multiples cancer, breast cancer and the emergence of multiple sebaceous adenomas and carcinomas, features consistent with Syndrome Muir Torre (SMT). The 75% of the SC are located in the ocular region and the 25% rest presents extraocular location. The eye location is characterized by aggressive behavior, with direct extension and high potential for regional and distant metastases. Extraocular are generally less aggressive tumors and are located mainly in the head and neck. The pathogenesis is unclear, but chronic inflammatory processes, ultraviolet radiation and radiation will favor its development. The SC is a versatile tumor that presents with different clinical and histological different growth patterns, which retard the definitive diagnosis. SC is one of the cutaneous diagnostic markers of SMT, which is a genetic disease associated with visceral neoplasms. They are carefully assessed, performing a proper personal and family cancer history. The treatment of choice is the surgery with wide margins.

Muir-Torre Syndrome: case report and molecular characterization / Sindrome de Muir-Torre: relato de caso e caracterizacao molecular

CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation. CONCLUSION: Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options. .

CONTEXTO: A síndrome de Muir-Torre é uma genodermatose autossômica dominante rara causada por mutações nos genes de reparo de incorreções. Caracteriza-se pela presença de tumores sebáceos da pele e doenças malignas internas, afetando principalmente cólon, reto e trato urogenital. A consciência desta síndrome pelos médicos pode levar ao diagnóstico precoce dessas doenças malignas e a um melhor prognóstico. RELATO DE CASO: Relatamos o caso de uma paciente chilena que, ao longo de vários anos, teve lesões cutâneas múltiplas, câncer de endométrio e câncer de cólon. A síndrome foi diagnosticada com técnicas moleculares, como a análise de instabilidade de microssatélites, imunoistoquímica e sequenciamento de DNA, o que nos permitiu encontrar a mutação causadora. CONCLUSÃO: Diagnóstico molecular é uma ferramenta muito útil, uma vez que permite que os clínicos confirmem a presença de mutações causadoras de síndrome de Muir-Torre. É complementar para a análise dos dados clínicos, tais como a apresentação dermatológica, a presença de doenças malignas viscerais e história familiar de tumores colorrectais, e fornece conhecimentos importantes para ajudar os médicos e os pacientes a escolher entre opções de tratamento. .

Historical review of Lynch syndrome / Revisão histórica da síndrome de Lynch

Lynch syndrome was formerly known as Hereditary Nonpolyposis Colorectal Cancer. Currently, these two nomenclatures each have their unique definitions and are no longer used interchangeably. The history of hereditary nonpolyposis colorectal cancer was first recognized formally in the literature by Henry Lynch in 1967. With advances of molecular genetics, there has been a transformation from clinical phenotype to genotype diagnostics. This has led to the ability to diagnose affected patients before they manifest with cancer, and therefore allow preventative surveillance strategies. Genotype diagnostics has shown a difference in penetrance of different cancer risks dependent on the gene containing the mutation. Surgery is recommended as prevention for some cancers; for others they are reserved for once cancer is noted. Various surveillance strategies are recommended dependent on the relative risk of cancer and the ability to intervene with surgery to impact on survival. Risk reduction through aspirin has shown some recent promise, and continues to be studied. (AU)

A síndrome de Lynch era anteriormente conhecida como "câncer colorretal hereditário não polipose". Atualmente, essas duas nomenclaturas têm, cada uma, sua própria definição original e já não são empregadas de forma intercambiável. O histórico de câncer colorretal hereditário não polipose foi formalmente reconhecido pela primeira vez na literatura por Henry Lynch em 1967. Com os avanços da genética molecular, verificou-se uma mudança do fenótipo clínico para o diagnóstico genotípico. Esse fato levou à capacidade de diagnosticar pacientes afetados antes que o câncer se manifestasse, e, portanto, à utilização de estratégias preventivas de rastreamento. O diagnóstico genotípico mostrou a diferença na penetrância de diferentes riscos de câncer dependendo do gene que contem a mutação. A cirurgia é recomendada para a prevenção de alguns tipos de câncer; para outros, ela é reservada quando há o aparecimento da doença. Várias estratégias de rastreamento são recomendadas, dependendo do risco relativo de câncer, bem como a capacidade para intervir com a cirurgia objetivando um impacto na sobrevivência. A redução do risco através do uso de aspirina recentemente mostrou ser promissor e continua a ser estudada. (AU)

Adenoma sebáceo en un paciente con síndrome de Muir-Torre / Sebaceous adenoma in a patient with a Muir-Torre syndrome

El síndrome de Muir-Torre comprende la asociación de uno o más tumores de glándulas sebáceas, con una o más malignidades internas y antecedentes familiares de neoplasias. Presentamos el caso de un paciente masculino de 33 años, con antecedentes familiares de cáncer de colon, que consulta a nuestro servicio por lesión en cuero cabelludo de seis meses de evolución, con posterior diagnóstico histopatológico de adenoma sebáceo. Dentro de los exámenes complementarios se observan por colonoscopía, dos lesiones que correspondieron a adenocarcinomas de colon bien diferenciados. Con los antecedentes familiares, el examen clínico y la histopatología se efectúa el diagnóstico de síndrome de Muir-Torre.

Muir-Torre syndrome represents the association of one or more sebaceous tumors, with one or more visceral malignancies and a family history of cancer. We report the case of a 33-year-old man, with a family history of colon cancer, who presented with a scalp tumor. The histopathological diagnosis was sebaceous adenoma. Two lesions were found in the colonoscopy, which corresponded to colon adenocarcionomas. With a compatible personal and family history of cancer and the results of the histopathology, we diagnosed the patient as Muir-Torre syndrome.

Síndrome de Muir-Torre: a propósito de dos casos / Muir-Torre syndrome: speaking of two cases

El síndrome de Muir-Torre (SMT) es una entidad que agrupa a lo menos una neoplasia sebácea y una neoplasia visceral. Es un trastorno genético que involucra un fallo en la transcripción de proteínas de reparación de ADN. Es poco frecuente y habitualmente el diagnóstico requiere una búsqueda exhaustiva de las neoplasias asociadas. El tratamiento de las lesiones cutáneas es la extirpación completa de la lesión, pero requiere un control continuo para detectar a tiempo recurrencias, nuevas neoplasias y posibles metástasis. Se presenta el reporte de dos casos, que presentan todas las características clínicas del SMT, junto con una revisión bibliográfica sobre el tema.

Muir-Torre syndrome (MTS is an entity comprising sebaceous neoplasm and visceral malignancy. It is a genetic disorder that involves a failure in the transcription of DNA repair proteins. It is a uncommon disease and usually the diagnosis requires an exhaustive search of associated neoplasm. The treatment of skin neoplasm is the complete removal of the lesion, but it requires continuous monitoring to detect early recurrence, new neoplasias and possible metastasis. We report two cases, which illustrate all the clinical characteristics of MTS, together with a literature review on the subject.