Assuntos
Anilidas/efeitos adversos , Síndrome de Hipersensibilidade a Medicamentos/etiologia , Recidiva Local de Neoplasia/tratamento farmacológico , Piridinas/efeitos adversos , Administração Oral , Idoso , Anilidas/uso terapêutico , Carcinoma Basocelular/tratamento farmacológico , Carcinoma Basocelular/patologia , Síndrome de Hipersensibilidade a Medicamentos/fisiopatologia , Síndrome de Hipersensibilidade a Medicamentos/terapia , Feminino , Seguimentos , Humanos , Recidiva Local de Neoplasia/patologia , Piridinas/uso terapêutico , Medição de Risco , Neoplasias Cutâneas/tratamento farmacológico , Neoplasias Cutâneas/patologiaRESUMO
Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis caused by mutations in the DNA mismatch repair genes MLH1 and MSH2. This case describes a patient with an extensive family history of colon cancer who experienced the onset of multiple sebaceous adenomas and carcinomas after undergoing kidney transplantation and receiving immunosuppressive therapy. The finding of deficient MSH2 expression in the immunohistochemical analysis of a sebaceous carcinoma prompted genetic testing for a systemic mutation in the mismatch repair gene. A systemic mutation of the MSH2 gene was detected and, despite the absence of a visceral malignancy, the diagnosis of MTS was made. Immunosuppression has previously been thought to play a possible role in unmasking a latent MTS phenotype in transplant recipients, but systemic mutations have not previously been analyzed. The relationship between immunosuppression and sebaceous tumors with the possibility of unmasking a MTS phenotype in transplant recipients is discussed.
Assuntos
Adenocarcinoma Sebáceo/etiologia , Adenoma/etiologia , Terapia de Imunossupressão , Imunossupressores/efeitos adversos , Síndrome de Muir-Torre/diagnóstico , Proteína 2 Homóloga a MutS/genética , Neoplasias Primárias Múltiplas/etiologia , Neoplasias Cutâneas/etiologia , Adenocarcinoma Sebáceo/genética , Adenoma/genética , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/genética , Códon sem Sentido , Neoplasias do Colo/diagnóstico , Neoplasias do Colo/etiologia , Neoplasias do Colo/genética , Pólipos do Colo/diagnóstico , Pólipos do Colo/etiologia , Pólipos do Colo/genética , Reparo de Erro de Pareamento de DNA , Análise Mutacional de DNA , Neoplasias Faciais/etiologia , Neoplasias Faciais/genética , Doença Enxerto-Hospedeiro/prevenção & controle , Humanos , Hipertensão Maligna/cirurgia , Imunossupressores/uso terapêutico , Transplante de Rim , Masculino , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/genética , Fenótipo , Neoplasias Cutâneas/genéticaRESUMO
A 68-year-old healthy man presented with papulopustular rosacea (PPR) recalcitrant to multiple therapies, including permethrin cream 5%. Histologic examination detected the presence of chronic folliculitis and numerous Demodex organisms. A diagnosis of rosacealike demodicidosis was rendered, and the patient was treated with oral ivermectin and permethrin cream 5%, resulting in resolution of the folliculitis. Demodex infestation should be considered in any patient with rosacealike dermatitis resistant to conventional rosacea therapies. If infestation is demonstrated in these patients, oral ivermectin in combination with topical permethrin is a safe and effective therapeutic option.