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Cesinaro AM, Ubiali A, Sighinolfi P, et al. Mismatch repair proteins expression •• and microsatellite instability in skin lesions with sebaceous differentiation: a study in different clinical subgroups with and without extracutaneous cancer. Am J Dermatopathol 2007; 29:351-358. This paper recommends screening all sebaceous neoplasms for MMR gene deficiency with IHC. It also demonstrated that approximately equal numbers of sebaceous neoplasms associated with MTS and are not positive by IHC for loss of MMR proteins. This is a much lower sensitivity of IHC detecting MTS lesions than previous studies reported. Also, it confirmed previous reports of high concordance between IHC and MSI testing, as well as between cutaneous and visceral lesions for MSI.
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Cesinaro AM, Ubiali A, Sighinolfi P, et al. Mismatch repair proteins expression •• and microsatellite instability in skin lesions with sebaceous differentiation: a study in different clinical subgroups with and without extracutaneous cancer. Am J Dermatopathol 2007; 29:351-358. This paper recommends screening all sebaceous neoplasms for MMR gene deficiency with IHC. It also demonstrated that approximately equal numbers of sebaceous neoplasms associated with MTS and are not positive by IHC for loss of MMR proteins. This is a much lower sensitivity of IHC detecting MTS lesions than previous studies reported. Also, it confirmed previous reports of high concordance between IHC and MSI testing, as well as between cutaneous and visceral lesions for MSI.
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8
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0032721654
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Muir-Torre Syndrome: Case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature
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Akhtar S, Oza K, Khan SA, Wright J. Muir-Torre Syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol 1999; 41:681-686.
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33847106410
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A case of Muir-Torre syndrome • associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene
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This is a case of cholangiocarcinoma as part of MTS, which is a previously unreported visceral malignancy in MTS
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Vemez M, Hutter P, Monnerat C, et al. A case of Muir-Torre syndrome • associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. Fam Caner 2007; 6:141-145. This is a case of cholangiocarcinoma as part of MTS, which is a previously unreported visceral malignancy in MTS.
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Vemez, M.1
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Monnerat, C.3
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10
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39649093644
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The frequency of Muir-Torre · syndrome among Lynch syndrome families
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This study supports the overlap of MTS and HNPCC by finding that 28% of HNPCC families and 9.2% of individuals from these families also meet the clinical criteria for MTS, and recommends screening all MTS patients for HNPCC
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South CD, Hampel H, Comeras I, et al. The frequency of Muir-Torre · syndrome among Lynch syndrome families. J Natl Cancer Inst 2008; 100:277-281. This study supports the overlap of MTS and HNPCC by finding that 28% of HNPCC families and 9.2% of individuals from these families also meet the clinical criteria for MTS, and recommends screening all MTS patients for HNPCC.
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J Natl Cancer Inst
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11
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33845536020
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MSH6 mutation in Muir-Torre •• syndrome: Could this be a rare finding?
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This paper reports the first finding of a mutation in MSH6 in a patient with MTS. They update their previous report with percentages of MTS mutations they have seen: 86% MSH2, 11% MLH1, and 1 case of MSH6
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Mangold E, Rahner N, Friedrichs N, et al. MSH6 mutation in Muir-Torre •• syndrome: could this be a rare finding? Br J Dermatol 2007; 156:158-162. This paper reports the first finding of a mutation in MSH6 in a patient with MTS. They update their previous report with percentages of MTS mutations they have seen: 86% MSH2, 11% MLH1, and 1 case of MSH6.
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Br J Dermatol
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Mangold, E.1
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Friedrichs, N.3
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12
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34547413360
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An individual with Muir-Torre syndrome • found to have a pathogenic MSH6 gene mutation
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This is a report of another patient with MTS having a pathogenic mutation in MSH6; they recommend screening all patients with MTS for HNPCC
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Arnold A, Payne S, Fisher S, et al. An individual with Muir-Torre syndrome • found to have a pathogenic MSH6 gene mutation. Fam Cancer 2007; 6:317 - 321. This is a report of another patient with MTS having a pathogenic mutation in MSH6; they recommend screening all patients with MTS for HNPCC.
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Fam Cancer
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Arnold, A.1
Payne, S.2
Fisher, S.3
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13
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MHS-6: Expanding the reliability of •• immunohistochemical as a screening tool in Muir-Torre syndrome
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This paper determined the positive predictive value of IHC screening for lack of MSH2, MLH1, and MSH6 proteins for having MTS
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Chhibber V, Dresser K, Mahalingam M. MHS-6: expanding the reliability of •• immunohistochemical as a screening tool in Muir-Torre syndrome. Mod Pathol 2008; 21:159-164. This paper determined the positive predictive value of IHC screening for lack of MSH2, MLH1, and MSH6 proteins for having MTS.
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Mod Pathol
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Chhibber, V.1
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Mahalingam, M.3
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Murphy HR, Armstrong R, Carins D, Greenhalgh KL Muir-Torre syndrome: • expanding the genotype and phenotype-a further family with a MSH6 mutation. Fam Cancer 2008. [Epub ahead of print] This paper reports another patient with MTS and MSH6 mutation, in a family with many extracolonic malignancies.
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Murphy HR, Armstrong R, Carins D, Greenhalgh KL Muir-Torre syndrome: • expanding the genotype and phenotype-a further family with a MSH6 mutation. Fam Cancer 2008. [Epub ahead of print] This paper reports another patient with MTS and MSH6 mutation, in a family with many extracolonic malignancies.
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15
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A genotype-phenotype correlation in HNPCC: Strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome
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Mangold E, Pagenstecher C, Leister M, et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 2004; 41:567-572.
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Leister, M.3
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This paper demonstrates anticipation effect amongst 23 HNPCC parent-child pairs with MSH2 mutations, showing that the younger generation presented with cancer a median of 12 years earlier than their parents
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Stella A, Surdo NC, Lastella P, et al. Germline novel MSH2 deletions and a •• founder MSH2 deletion associated with anticipation effects in HNPCC. Clin Genet 2007; 71:130-139. This paper demonstrates anticipation effect amongst 23 HNPCC parent-child pairs with MSH2 mutations, showing that the younger generation presented with cancer a median of 12 years earlier than their parents.
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Mathiak M, Rutten A, Mangold E, et al. Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MHL1 germline mutations. Am J Surg Pathol 2002; 26:338-343.
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Entius MM, Keller JJ, Drillenberg P, et al. Microsatellite instability and expression of hMLH-1 and hMSH-2 in sebaceous gland carcinomas as markers for Muir-Torre syndrome. Clin Cancer Res 2000; 6:1784-1789.
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Yanaba K, Nakagawa H, Takeda Y, et al. Muir-Torre syndrome caused by partial duplication of MSH2 gene by Alu-mediated nonhomologous recombination. Br J Dermatol 2008; 158:150-256.
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Site and tumor type predicts DNA •• mismatch repair status in cutaneous sebaceous neoplasia
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This paper correlated location of tumor and type of sebaceous neoplasm with the likelihood of having MMR defects providing data to help guide clinicians on handling various sebaceous neoplasms
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Singh RS, Grayson W, Redston M, et al. Site and tumor type predicts DNA •• mismatch repair status in cutaneous sebaceous neoplasia Am J Surg Pathol 2008; 32:936-942. This paper correlated location of tumor and type of sebaceous neoplasm with the likelihood of having MMR defects providing data to help guide clinicians on handling various sebaceous neoplasms.
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Degos' disease
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This is a case illustrating mortality in Degos' disease as a result of cardiopulmonary involvement
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Notash A, Mazoochy H, Mirshams M, Nikoo A. Lethal systemic Degos' disease • with prominent cardiopulmonary involvement Saudi Med J 2008;29:133-137. This is a case illustrating mortality in Degos' disease as a result of cardiopulmonary involvement.
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Notash, A.1
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30
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Benign cutaneous Degos' disease in a 16 •• year old girl
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This review shows that the pediatric population is affected by Degos' disease with a 58% mortality rate. They also review benign cutaneous Degos' disease in the literature, finding that this variant occurs more frequently in women, and that a significant number of patients were followed for more than 5 years without development of systemic symptoms
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Wilson J, Walling WB, Stone MS. Benign cutaneous Degos' disease in a 16 •• year old girl. Pediatr Dermatol 2007; 24:18-24. This review shows that the pediatric population is affected by Degos' disease with a 58% mortality rate. They also review benign cutaneous Degos' disease in the literature, finding that this variant occurs more frequently in women, and that a significant number of patients were followed for more than 5 years without development of systemic symptoms.
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Pediatr Dermatol
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Scheinfeld N. Malignant atrophic papulosis. Clin Exp Dermatol 2007; •• 32:483-487. This article provides a recent review of the literature on Degos' disease that goes into more depth than space allows here.
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Jalil J, Shafique M, Dar NR. Dermatological clue to diagnosis of Degos' • disease in a 2-year-old with obscure chronic abdominal pain. Clin Pediatr 2008; 47:180-182. This is a case report illustrative of gastrointestinal symptoms preceding the onset of cutaneous lesions.
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This is a case report demonstrating that gastrointestinal involvement in Degos' disease may present up to 3 years after the onset of cutaneous lesions
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Subramaniam K, Debinski H, Heenan P. Degos's disease with delayed involve- • merit of the gastrointestinal tract Australas J Dermatol 2008; 49:88-90. This is a case report demonstrating that gastrointestinal involvement in Degos' disease may present up to 3 years after the onset of cutaneous lesions.
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The use of intravenous immunoglobulin in •• cutaneous and recurrent perforating intestinal Degos' disease (malignant atrophic papulosis)
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This is the first report in the literature of the successful use of intravenous immunoglobulin in the treatment of cutaneous and gastrointestinal Degos' disease
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Zhu KJ, Zhou Q, Lin AH, et al. The use of intravenous immunoglobulin in •• cutaneous and recurrent perforating intestinal Degos' disease (malignant atrophic papulosis). Br J Dermatol 2007; 157:206-207. This is the first report in the literature of the successful use of intravenous immunoglobulin in the treatment of cutaneous and gastrointestinal Degos' disease.
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This is a case report demonstrating that cutaneous Crohn's lesions are often misleading causing a delay in accurate diagnosis and treatment
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Farhi D, Duriez P, Aractingi S, et al. Misleading pustular plaques on the lower • limbs during Crohn's disease: two case reports. J Med Case Rep 2007; 1:109. This is a case report demonstrating that cutaneous Crohn's lesions are often misleading causing a delay in accurate diagnosis and treatment.
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This is a case report demonstrating that metastatic Crohn's lesions can present even when a patient is asymptomatic as far as bowel disease is concerned
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Ilangovan KR, Yeo R. Unusual presentation of metastatic Crohn's. Eur J • Obstet Gynecol Reprod Biol 2008; 137:259. This is a case report demonstrating that metastatic Crohn's lesions can present even when a patient is asymptomatic as far as bowel disease is concerned.
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This paper reviews the histopathology of 12 cases of metastatic Crohn's disease providing summation of the features typical of the cutaneous lesions, in particular distinguishing metastatic Crohn's disease from cutaneous sarcoidosis
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Emanuel PO, Phelps RG. Metastatic Crohn's disease: a histopathologic study •• of 12 cases. J Cutan Pathol 2008; 35:457-461. This paper reviews the histopathology of 12 cases of metastatic Crohn's disease providing summation of the features typical of the cutaneous lesions, in particular distinguishing metastatic Crohn's disease from cutaneous sarcoidosis.
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Moyes LH, Glen P, Pickford IR. Perineal metastatic Crohn's disease: a case •• report and review of the literature. Ann R Goll Surg Engl 2007; 89:W1-W3. This paper reviews six cases of perineal metastatic Crohn's disease and recommends extensive surgical debridement over medical management. They also present a case of perineal metastatic Crohn's disease that presented in a patient who had been asymptomatic for 13 years as a result of a proctocolectomy 18 years prior to the metastatic Crohn's presentation.
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Moyes LH, Glen P, Pickford IR. Perineal metastatic Crohn's disease: a case •• report and review of the literature. Ann R Goll Surg Engl 2007; 89:W1-W3. This paper reviews six cases of perineal metastatic Crohn's disease and recommends extensive surgical debridement over medical management. They also present a case of perineal metastatic Crohn's disease that presented in a patient who had been asymptomatic for 13 years as a result of a proctocolectomy 18 years prior to the metastatic Crohn's presentation.
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49
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Cutaneous penile and perianal • Crohn's disease treated with a combination of medical and surgical interventions
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This is a report of an elderly patient presenting with aggressive metastatic Crohn's disease of the penis, in whom no gastrointestinal evidence of Crohn's disease was found
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Rajpara SM, Siddha SK, Ormerod AO, et al. Cutaneous penile and perianal • Crohn's disease treated with a combination of medical and surgical interventions. Australas J Dermatol 2008; 49:21-24. This is a report of an elderly patient presenting with aggressive metastatic Crohn's disease of the penis, in whom no gastrointestinal evidence of Crohn's disease was found.
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Rajpara, S.M.1
Siddha, S.K.2
Ormerod, A.O.3
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