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.

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).

Síndrome de Lynch variante Muir-Torre: a propósito de 2 casos / Lynch syndrome, Muir Torre variant: 2 cases

El síndrome de Lynch (SL), es un síndrome genético con patrón de herencia autosómico dominante, que predispone el desarrollo de cáncer colorrectal y neoplasias extracolónicas, debido a la mutación germinal en alguno de los genes reparadores de los errores de la replicación del ADN (MLH1, MSH2, MSH6 o PMS2). El Síndrome de Muir-Torre (SMT), es una variante fenotípica del SL que predispone además a desarrollar tumores de glándulas sebáceas y queratoacantomas. Presentamos el caso de dos pacientes con SMT, con más de una neoplasia relacionada al SL, lesiones cutáneas, antecedentes familiares de cáncer y estudios de inestabilidad de microsatélites e inmunohistoquímica...

Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis...

A Case of Eyelid Sebaceoma Mimicking Chalazion

PURPOSE: To report a rare case of sebaceoma misdiagnosed as chalazion. CASE SUMMARY: A 42-year-old female presented with a visible mass in her right lower eyelid. An elevated, hard mass was located at the margin of the right lower eyelid, and she had a history of incision and curettage under the clinical impression of chalazion. On eversion of the lower eyelid, the tarsal portion of the mass was visible as a white-yellowish lesion. The mass was excised under local anesthesia. A sebaceoma was diagnosed based on histopathological examinations. Immunohistochemical studies showed positive staining results for mutator L homologue 1 (MLH1), mutator S homologue 2 (MSH2), and mutator S homologue 6 (MSH6), and she had no past medical history or family history of internal malignancy, suggesting a low possibility of Muir-Torre syndrome. CONCLUSIONS: Eyelid sebaceoma should be considered as a differential diagnosis for refractory chalazion.

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.

Sebaceous Carcinoma of the Suprapubic Area in a Liver Transplant Recipient

Sebaceous carcinoma is a very rare and potentially aggressive carcinoma originating from the epithelial lining of the sebaceous gland. More than 70% of all cases are in the head and neck region, especially the periorbita; therefore, they are classified into ocular and extraocular sebaceous carcinoma. The reported risk factors are advanced age, male sex, previous irradiation, and genetic predisposition for Muir-Torre syndrome. The current case is of sebaceous carcinoma found in the suprapubic area of a 67-year-old male patient who had received liver transplantation 6 years before, and had been receiving oral tacrolimus. Examination of the gastrointestinal system did not reveal any other malignancies. Although nonmelanoma skin cancers may occur as a complication after liver transplantation, there have been no previous reports of sebaceous carcinoma after liver transplantation. Furthermore, the sebaceous carcinoma in this case occurred in an uncommon location. We report this case along with a review of the literature.

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. .

A Case of Muir-Torre Syndrome with Multiple Cancers of Bilateral Eyelids and Breast

We report a case of Muir-Torre syndrome (MTS) with a very rare combination of cancers, involving bilateral eyelid cancers and breast cancer. A 71-year-old female with a history of breast cancer from 18 years prior presented with bilateral eyelid tumors. One of her siblings had lung cancer, and another had pancreatic cancer. She underwent excisional biopsy of the eyelid tumors and histopathology revealed sebaceous carcinoma of the right eyelid and basal cell carcinoma of the left. She was diagnosed with MTS: a skin cancer associated with visceral malignancy. Immunohistochemical tests for mutS homolog 2 showed a lack of expression in both eyelid carcinomas.

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.

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.

Analysis of Microsatellite Instability and Loss of Heterozygosity in Sporadic Keratoacanthoma / 대한해부학회지

Tumors from patients with hereditary non-polyposis colorectal cancer (HNPCC)and from a subset of patients with the related Muir-Torre syndrome exhibit a type of a genetic instability, known as microsatellite instability (MIS), which results from mutations that inactivate DNA mismatch repair genes. Keratoacanthomas resemble squamous cell carcinoma but after a period of rapid growth over a few months they involute completely. The detection of MIS in a keratoacanthoma from a patient with Muir-Torre syndrome suggested that defective mismatch repair genes may play a role in the pathogenesis of these neoplasmas. In order to elucidate the significance of both MIS and loss of heterozygosity (LOH)in the pathogenesis of sporadic keratoacanthomas, the presents of MIS and LOH at 11 microsatellite markers (D2S286, D2S367, D3S1317, D5S346, D9S16, D9S171, D10S89, D10S185, D11S904, D17S261, and D17S520) were evaluated in randomly selected sporadic keratoacanthomas. MIS and LOH were found only in 1 of 10 cases at D17S261 and D10S185, respectively. In conclusion, the low frequency of MIS and LOH detected in this study suggests that neither MIS nor LOH appear to be significant in the induction of sporadic keratoacanthomas.

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.