Assuntos
Dermatofibrossarcoma/radioterapia , Radioterapia com Íons Pesados , Recidiva Local de Neoplasia/radioterapia , Neoplasias Cutâneas/radioterapia , Protocolos de Quimioterapia Combinada Antineoplásica , Quimioterapia Adjuvante , Dermatofibrossarcoma/diagnóstico por imagem , Dermatofibrossarcoma/tratamento farmacológico , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/tratamento farmacológico , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/tratamento farmacológicoRESUMO
Histiocytoses, including Langerhans cell histiocytosis (LCH), juvenile or adult xanthogranuloma (AXG) and Rosai-Dorfman disease (RDD), are rare disorders characterized by the proliferation of cells derived from monocyte/macrophage lineages. A few cases of LCH coexisting with xanthogranuloma or RDD have been reported. The etiology of these diseases remains unclear. However, oncogenic BRAFV 600E mutations have been identified in LCH. Here, we report the case of a 26-year-old Japanese man with a 3-month history of a solitary occipital nodule. No abnormality was detected in his other organs, and a total resection of the nodule was performed. Histopathological examination revealed the coexistence of LCH and AXG with prominent emperipolesis characteristic of RDD. Immunohistochemistry showed that most of the large histiocytes were positive for CD68, weakly positive or negative for S100, and negative for CD207 and CD1a, supporting the diagnosis of AXG. The tumor cells with emperipolesis did not show S100-positive findings characteristic of RDD. The focally aggregated oval histiocytic cells were positive for CD1a, CD207, CD68 and S100, and were compatible with the immunophenotype of LCH cells. In addition, these cells were positive for BRAFV 600E mutation. The tumor cells in our patient exhibited a cellular morphology characteristic of multiple histiocytoses in a solitary cutaneous nodule, which may imply an etiological association among LCH, AXG and RDD. To our knowledge, this is the first report of a BRAFV 600E mutation-positive case of LCH coexisting with AXG. Because patients with BRAFV 600E mutation have higher risks of multisystemic LCH and recurrence, we should carefully follow up the patient.
Assuntos
Histiocitose de Células de Langerhans/diagnóstico , Células de Langerhans/patologia , Xantogranuloma Necrobiótico/diagnóstico , Proteínas Proto-Oncogênicas B-raf/genética , Adulto , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/genética , Histiocitose de Células de Langerhans/patologia , Humanos , Masculino , Xantogranuloma Necrobiótico/complicações , Xantogranuloma Necrobiótico/genética , Xantogranuloma Necrobiótico/patologiaRESUMO
Nuclear factor (NF)-κB essential modifier (NEMO), also known as IκB kinase subunit-γ (IKKγ), is a pivotal molecule in the NF-κB signaling pathway. Mutations of NEMO cause incontinentia pigmenti and X-linked ectodermal dysplasia with immunodeficiency. Mendelian susceptibility to mycobacterial diseases (MSMD), which confers an almost selective predisposition to mycobacterial infection, is also caused by NEMO mutations. We herein report the first case of a patient with X-linked recessive (XR) MSMD who developed cutaneous squamous cell carcinoma, thyroid cancer and Langerhans cell histiocytosis. The relationship between NEMO mutation and oncogenesis is discussed.
Assuntos
Carcinoma de Células Escamosas/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Histiocitose de Células de Langerhans/genética , Quinase I-kappa B/genética , Infecções por Mycobacterium não Tuberculosas/genética , Neoplasias Cutâneas/genética , Neoplasias da Glândula Tireoide/genética , Adolescente , Carcinogênese/genética , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Humanos , Síndromes de Imunodeficiência , Lábio/patologia , Lábio/cirurgia , Masculino , Mutação , Infecções Pneumocócicas , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgiaAssuntos
Azatioprina/efeitos adversos , Imunossupressores/efeitos adversos , Aplasia Pura de Série Vermelha/induzido quimicamente , Adulto , Feminino , Humanos , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/tratamento farmacológico , Esclerodermia Difusa/complicações , Esclerodermia Difusa/tratamento farmacológicoRESUMO
Primary adrenal lymphoma (PAL) is extremely rare although involvement of malignant lymphoma into adrenals is common. We report a case of a 58-year-old man with bilateral PAL who demonstrated adrenal insufficiency. Primary large B-cell lymphoma was proven by a computed tomography-guided needle biopsy of the adrenal tumor. Although a complete remission was once achieved by combination chemotherapy plus rituximab, a recurrence occurred with brain metastasis leading to his death. We concluded that PAL should be considered as a possible cause of bilateral adrenal incidentalomas with progressive adrenal insufficiency.
Assuntos
Neoplasias das Glândulas Suprarrenais/complicações , Insuficiência Adrenal/etiologia , Linfoma Difuso de Grandes Células B/complicações , Neoplasias Primárias Múltiplas/complicações , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/tratamento farmacológico , Anticorpos Monoclonais Murinos/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/secundário , Cisplatino/administração & dosagem , Terapia Combinada , Ciclofosfamida/administração & dosagem , Citarabina/administração & dosagem , Dexametasona/administração & dosagem , Doxorrubicina/administração & dosagem , Evolução Fatal , Humanos , Achados Incidentais , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/radioterapia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Neoplasias Primárias Múltiplas/diagnóstico , Neoplasias Primárias Múltiplas/tratamento farmacológico , Prednisona/administração & dosagem , Rituximab , Vincristina/administração & dosagemRESUMO
Digital ulcers and gangrene are common skin manifestations of connective tissue diseases, especially systemic sclerosis, although they are relatively rare in systemic lupus erythematosus. We describe here three patients with digital gangrene and systemic lupus erythematosus. None of the patients showed high disease activity of systemic lupus erythematosus at the time the digital gangrene developed. Two patients were positive for anti-RNP antibodies; however, no symptoms of other collagen diseases were present. One patient had anti-phosphatidylserine/prothrombin complex antibodies, and the other had anti-cardiolipin beta2 glycoprotein I antibodies and lupus anticoagulant at low titre. All patients showed narrowing or occlusion of radial and/or ulnar arteries in addition to digital arteries. Although a complication of anti-phospholipid syndrome is considered to be a possible cause, there may be unidentified causes other than thrombosis, atherosclerosis, overlap syndrome and vasculitis.