Sebaceoma: Un tumor infrecuente en el conducto auditivo externo / Sebaceoma: an unusual tumor in the external auditory canal

El sebaceoma es un tumor cutáneo poco frecuente que presenta diferenciación sebácea, y se localiza en piel de cabeza y cuello. Puede asociarse con la presencia de tumores malignos, asociación conocida como síndrome de Muir-Torre, por lo que ante su diagnóstico se deben descartar. Su localización en la piel del conducto auditivo externo es muy infrecuente. Presentamos nuestra experiencia en el manejo de esta patología en un varón de 78 años de edad que presentaba una lesión nodular sólida en el conducto auditivo externo izquierdo con pérdida de audición y otorrea como síntomas asociados. Se recomienda la exéresis completa de la lesión, como tratamiento de elección con fines tanto diagnósticos como terapéuticos.

Sebaceoma is a rare benign cutaneous tumor with sebaceous differentiation and it is typically located on the skin of the head and neck. This pathology made appear in association with malignant tumors (known as Muir-Torre syndrome) and must be ruled out. The location in the external auditory canal is very unusual. We present our experience in managing this pathology in a 78-year-old man who complains of hearing loss and otorrhea and presents a solid nodule in the left external auditory canal. Complete surgical removal was performed, as the choice treatment for diagnosis and therapeutic care.

Case for diagnosis. Verrucous plaque on the pubic region

Abstract Muir-Torre syndrome is a rare, autosomal dominant genodermatosis, characterized by sebaceous neoplasms and visceral carcinomas. The authors describe the case of a patient who, 16 years after the diagnosis of colon carcinoma, presented a verrucous plaque on the pubic region, histopathologically compatible with sebaceous adenoma. The need to investigate this syndrome is emphasized, especially in cases of sebaceous neoplasms located outside the head, face, and neck. Screening for neoplasms in these patients and their families is mandatory.

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.

Neoplasias de origen sebáceo asociadas a Síndrome de Muir-Torre. A propósito de un caso / Sebaceous neoplasias associated to Muir-Torre syndrome. A propos of a case

El Síndrome de Muir-Torre (SMT) descrito desde 1967, es una genodermatosis con herencia autosómica dominante y penetrancia variable, caracterizada por la presencia de neoplasias cutáneas de origen sebáceo manifestado en áreas seborreicas, como la cara y cuero cabelludo. Los adenomas son los tumores sebáceos más frecuentes. Se han descrito también hiperplasias, neoformaciones sebáceas quísticas, epiteliomas o carcinoma. Los mismos pueden presentarse de manera aislada o múltiple; en conjunto con al menos una neoplasia visceral maligna. Entre las descritas con frecuencia están las gastrointestinales. Se pueden asociar a otras neoplasias, como las renales, las de endometrio, útero y de laringe. El diagnóstico clínico está dado por la presencia y asociación de un tumor visceral primario y otro de origen sebáceo. El tratamiento de esta entidad se basa en la exéresis de los tumores y el seguimiento especializado según el sistema afectado. Se presentó el caso de un hombre de 62 años de edad, cuya afección cutánea demostró múltiples lesiones de origen sebáceo de siete años de evolución por lo que se le realizaron complementarios para identificar entidades asociadas (AU).

The Muir-Torre syndrome, described since 1967, is a genodermatosis with dominant autosomal inheritance and variable penetrance, characterized by the presence of sebaceous skin neoplasias manifested in seborrheic areas as the face and scalp. Adenomas are the most frequent sebaceous tumors. Hyperplasia, cystic sebaceous neoformations, epitheliomas or carcinomas have been also described. They could appear in an isolated or multiple way, in all with at least one malignant visceral neoplasia. The gastrointestinal ones are among those frequently described. They might be associated to other neoplasias, as the renal ones, or the ones of the endometrium, the uterus and the larynx. The clinical diagnosis is given by the presence and association of one primary visceral tumor and another of sebaceous origin. The treatment of this entity is based on the tumors resection and the specialized follow-up according to the affected system. The case of a man, aged 62 years, is presented; his cutaneous condition showed multiple sebaceous lesions of seven years of evolution. Complementary exams were carried out for identifying associated lesions (AU).

Syndrome in question

AbstractMuir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors. The sebaceous neoplasm may appear before, during or after the diagnosis of colorectal cancer. As it is regarded as a subtype of nonpolyposis hereditary colorectal cancer, it is important to evaluate the patient's first-degree relatives. The clinical course of the neoplasm is usually more indolent and the syndrome has a good prognosis. We report the case of a patient who, after a ten-year diagnosis of colorectal cancer, presented with multiple sebaceous neoplasms.

The role of immunohistochemistry in the Muir-Torre Syndrome

Muir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. The immunohistochemical analysis of the skin lesion was an important tool to confirm the diagnosis, as it revealed nuclear negativity for MSH2 and MSH6.

A Case of Muir-Torre Syndrome Confirmed by Genetic Mutation Analysis / 대한피부과학회지

No abstract available.

A case of Muir-Torre syndrome presenting as keratoacanthoma and sebaceous adenoma / 中华皮肤科杂志

A 44-year-old male presented with a neoplasm on the buccal side of the right nasolabial fold for more than two months.Dermatological examination showed a hemispherical bulge sized 1.5 cm × 1.5 cm with central crater-like ulceration on the buccal side of the right nasolabial fold,as well as a crescent-shaped elevation measuring 1.5 cm × 2.5 cm above the hemispherical lesion.Histopathology of the hemispherical lesion revealed irregularly downward proliferation of epidermis,crater-like holes filled with eosinophilic keratinous plug in the center which were surrounded by collar-shaped epithelial cell projections.Small neutrophil abscesses were found in the clumps of epithelial cells,and massive lymphocyte infiltration with a clear bottom boundary was observed around the proliferating epithelial cells.Histopathologic examination of the crescent lesion showed multiple irregularly-shaped lobular-like structures of various sizes with sebaceous glands at different degrees of maturity in the mid dermis,which were surrounded by proliferating connective tissue.Immunohistochemical studies showed that the squamous cells stained positive for cytokeratin (CK),CK5,CK14,CK17,carcinoembryonic antigen (CEA) and epithelial membrane antigen (EMA) in the keratoacanthoma,and the sebaceous cells for CK,CK5,CK14 and EMA in the sebaceous adenoma.The pathological diagnosis was keratoacanthoma and sebaceous adenoma.The patient was diagnosed with moderately and poorly differentiated rectal adenocarcinoma in 2008.A diagnosis of Muir-Torre syndrome presenting as keratoacanthoma and sebaceous adenoma was finally made.

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)

Sebaceous Carcinoma Associated with Breast Cancer, Stomach Cancer, and Colon Cancer: Muir-Torre Syndrome

Muir-Torre syndrome is defined by concurrent or sequential development of internal malignancy and sebaceous neoplasm or multiple keratoacanthomas. Muir-Torre syndrome is very rare, with only 205 cases reported in the literature. We reported a patient with Muir-Torre syndrome with three internal malignancies. A 64-year-old patient with a history of breast cancer, stomach cancer and colon cancer visited our department for treatment of the skin lesion that occurred five years before on the left cheek. The lesion was excised completely with a resection margin of 1 cm, followed by full-thickness skin graft from left postauricular area for reconstruction. Histopathology revealed a 0.2 x 0.2 x 0.1 cm sized sebaceous carcinoma with 4 mm safety margin. The skin graft was well taken within 7 days after surgery and the patient was discharged to outpatient follow-up. There was no complication related with surgery. Muir-Torre syndrome is very rare, as are sebaceous gland tumors. So if a cancer of the sebaceous gland is diagnosed, screening workup for internal malignancy is recommended. Because of its good prognosis, surgical removal of primary or metastatic cancers may be curative and should be attempted where possible.

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.

A Case of Muir-Torre Syndrome

PURPOSE: To present a rare case of Muir-Torre syndrome characterized by the association of sebaceous skin tumors and systemic malignancies. CASE SUMMARY: A 65-year-old female visited our clinic with an irregular nodular mass of the right lower eyelid, which developed 1 year earlier. An excisional biopsy and lower lid reconstruction with Tenzel's semicircular rotational flap was performed under local anesthesia. Histopathologic examination showed well-differentiated sebaceous cells, consistent with sebaceous adenoma. The patient had undergone total abdominal hysterectomy and lower anterior resection due to endometrial cancer and sigmoid colon cancer 5 years before, and nephroureterectomy due to papillary urothelial carcinoma 3 years before. Based on the history of systemic malignancy and sebaceous skin cancer, a diagnosis of Muir-Torre syndrome was made. CONCLUSIONS: When a sebaceous gland tumor of the eyelids is detected, Muir-Torre syndrome should be included in the differential diagnosis, and systemic work-up for the internal malignancy must be performed.

A Case of Muir-Torre Syndrome: Extra-ocular Sebaceous Carcinoma in a Patient with Breast Cancer / 대한피부과학회지

Muir-Torre syndrome is defined by concurrent or sequential development of internal malignancy - most commonly colorectal cancer - and sebaceous neoplasm or multiple keratoacanthomas. Recent studies revealed it was caused by mutations in DNA mismatch repair genes, and suggested screening for mismatch repair gene defects may be of value for patients with Muir-Torre syndrome. We, herein, report a patient with Muir-Torre syndrome, who developed breast cancer and extra-ocular sebaceous carcinoma. In addition, we discussed our experience of immunohistochemical staining for mismatch repair protein with a review of the literature.

Muire-Torre syndrome: A case of sebaceous epithelioma with thyroid cancer / 대한내과학회지

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by at least one rare sebaceous neoplasm occurring in association with at least one internal malignancy. The visceral neoplasms most frequently associated with MTS are colorectal and genitourinary cancer, accounting for approximately 50 and 25% of cases, respectively. MTS rarely occurs in association with head and neck cancers. We report a rare case of MTS involving follicular thyroid carcinoma in an 84-year-old female.

Muire-Torre syndrome: A case of sebaceous epithelioma with thyroid cancer / 대한내과학회지

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by at least one rare sebaceous neoplasm occurring in association with at least one internal malignancy. The visceral neoplasms most frequently associated with MTS are colorectal and genitourinary cancer, accounting for approximately 50 and 25% of cases, respectively. MTS rarely occurs in association with head and neck cancers. We report a rare case of MTS involving follicular thyroid carcinoma in an 84-year-old female.

A Case of Sebaceous Carcinoma on the Extraocular Area Associated withB-cell Lymphoma, Esophageal Cancer and Gastric Cancer -A Case of Muir-Torre Syndrome- / 대한피부과학회지

Muir-Torre syndrome (MTS) is a rare autosomal dominant genodermatoses, first described in 1967. It is characterized by the presence of sebaceous tumors and an internal malignancy in the absence of other predisposing factors. The most common internal malignancy associated with MTS is colorectal adenocarcinoma, although a wide tumor spectrum exists including carcinomas of the genitourinary tract, breast, and hematologic malignancy. It is rare for more than two internal malignancies to occur in MTS. We report a rare case of MTS with B-cell lymphoma, esophageal cancer and gastric malignancy in a 63-year-old male.

A Case of Muir-Torre Syndrome / 대한피부과학회지

Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis first described in 1967 by Muir and in 1968 by Torre. It is characterized by the presence of at least one sebaceous gland tumor and the presence of a low-grade internal malignancy. The sebaceous neoplasia are typically adenomas, sebaceomas/sebaceous epitheliomas, or carcinomas. Most common internal malignancy is colorectal adenocarcinoma, but also neoplasia of the uterus, ovary and kidney may occur. Recent studies about genetic defect revealed MTS was caused by germline mutations in DNA mismatch repair genes and microsatellite instability. We report a case of MTS, multiple sebaceous adenomas with colorectal cancer in a 67-year-old male.

Research Advance of Muir-Torre Syndrome / 中国普外基础与临床杂志

Objective To review recent studies on Muir Torre syndrome (MTS) and to improve the knowledge about MTS.Methods The literatures in recent years on clinic and gene research of MTS were reviewed.Results MTS was is a rare autosomal dominant disorder characterized by the predisposition to both sebaceous tumors (or multiple keratoacanthomas) and internal malignancies. Gastrointestinal cancers were the most common kind of internal malignancies in MTS patients(61%),followed by genitourinary cancers(22%). In most cases(56%),sebaceous tumors appeared after the emergence of internal maliganancy. Both hereditary nonpolyposis colorectal cancer(HNPCC) and MTS were caused by germline mutations in the DNA mismatch repair genes. MTS patients exhibit significantly more mutations in the hMSH2 than in the hMLH1. In these cases , both internal and skin tumors showed the characteristic of high microsatellite instability(MSI).Conclusion The presence of sebaceous tumors(or multiple keratoacanthomas) necessitates the search for internal malignancies. It is mandatory that patients with MTS, as patients with HNPCC, should be regularly followed up to search new malignancies. Evaluation and monitoring of the family members of patients are also necessary. The patients and their families should be counseled for genetic test. Sequencing the hMSH2 gene should be the prior selection of further examinations when clinical manifestations, history and laboratory tests suggest MTS.