RESUMO
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.
Assuntos
Carcinoma/diagnóstico , Neoplasias Colorretais/diagnóstico , Imuno-Histoquímica/métodos , Síndrome de Muir-Torre/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal/genética , Adulto , Carcinoma/genética , Neoplasias Colorretais/genética , Proteínas de Ligação a DNA/genética , Mutação em Linhagem Germinativa , Humanos , Masculino , Síndrome de Muir-Torre/genética , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Proteínas Nucleares/genéticaRESUMO
We present a patient with Paracoccidioidomycosis/HIV coinfection which has been investigated because of chronic monoarthritis and mucocutaneous lesions. A biopsy of the synovial membrane and skin revealed structures consistent with Paracoccidioides brasiliensis. At diagnosis, the count of CD4 + T cells was 44 cells/mm3. We emphasize the importance of clinical suspicion of Paracoccidioidomycosis in patients with HIV/AIDS who live in or are from risk areas.
Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , Paracoccidioidomicose/patologia , Adulto , Biópsia , Contagem de Linfócito CD4 , Coinfecção/microbiologia , Coinfecção/patologia , Evolução Fatal , Humanos , Rim/patologia , Masculino , Membrana Sinovial/patologiaRESUMO
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.
.Assuntos
Adulto , Humanos , Masculino , Carcinoma/diagnóstico , Neoplasias Colorretais/diagnóstico , Imuno-Histoquímica/métodos , Síndrome de Muir-Torre/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal/genética , Carcinoma/genética , Neoplasias Colorretais/genética , Proteínas de Ligação a DNA/genética , Mutação em Linhagem Germinativa , Síndrome de Muir-Torre/genética , /genética , Proteínas Nucleares/genéticaRESUMO
We present a patient with Paracoccidioidomycosis/HIV coinfection which has been investigated because of chronic monoarthritis and mucocutaneous lesions. A biopsy of the synovial membrane and skin revealed structures consistent with Paracoccidioides brasiliensis. At diagnosis, the count of CD4 + T cells was 44 cells/mm3. We emphasize the importance of clinical suspicion of Paracoccidioidomycosis in patients with HIV/AIDS who live in or are from risk areas.