RESUMO
Anti-melanoma differentiation-associated gene 5 (MDA5) antibody has been recognized to be significantly associated with a subset of dermatomyositis patients with rapidly progressive interstitial lung disease (RP-ILD). To elucidate the clinical characteristics and poor prognostic factors in Japanese dermatomyositis patients with anti-MDA5 antibody. Clinical features of anti-MDA5 antibody-positive dermatomyositis patients and risk factors, potentially associated with a poor prognosis, were retrospectively analysed. A total of 37.3% (28/75) dermatomyositis patients were positive for anti-MDA5 antibody. The frequency of Gottron's papules, palmar violaceous macules, antihelix/helix violaceous macules, and clinically amyopathic dermatomyositis (CADM) was significantly higher in patients with anti-MDA5 antibody. Of anti-MDA5 antibody-positive dermatomyositis patients, 57.1% developed RP-ILD, and in those with RP-ILD, serum ferritin level was markedly high and partial pressure of arterial oxygen (PaO2) was significantly low at first visit. Among patients with anti-MDA5 antibody with RP-ILD, non-survivors were older and revealed lower PaO2 at first visit relative to survivors. Furthermore, patients who did not take triple therapy (prednisolone, calcineurin inhibitor and cyclophosphamide) as initial treatment resulted in poor outcome. Anti-MDA5 antibody may be associated with CADM, the progression to RP-ILD, high serum ferritin level, and characteristic skin manifestations. High serum ferritin level in patients with anti-MDA5 antibody may be associated with the development of RP-ILD and poor prognosis. Early treatment with triple therapy, including intravenous cyclophosphamide, may improve the prognosis of RP-ILD.
Assuntos
Autoanticorpos/sangue , Dermatomiosite/imunologia , Helicase IFIH1 Induzida por Interferon/imunologia , Doenças Pulmonares Intersticiais/imunologia , Fatores Etários , Progressão da Doença , Feminino , Ferritinas/sangue , Humanos , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
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/cirurgiaRESUMO
We recently identified the efficacy and safety of a botulinum toxin (BTX)-A/B in Raynaud's phenomenon (RP) and digital ulcers (DU) in Japanese patients with systemic sclerosis (SSc). Detailed assessments of peripheral vascular disorder using angiography and dermoscopic images of nail fold capillaries have not been performed previously. This study aimed to evaluate the effect of BTX-B on SSc-associated peripheral vascular disorder. Two SSc patients who suffered with RP and DU were treated with a BTX-B injection, and thereafter the symptoms of RP were improved and DU healed in both patients. Furthermore, angiography showed an increased blood flow to the palm and fingers, and dermoscopic images of nail fold capillary changes showed improvement. These results suggest that a BTX-B injection may increase peripheral blood flow and improve RP and DU in SSc patients.
Assuntos
Inibidores da Liberação da Acetilcolina/uso terapêutico , Toxinas Botulínicas Tipo A/uso terapêutico , Doença de Raynaud/tratamento farmacológico , Escleroderma Sistêmico/complicações , Úlcera Cutânea/tratamento farmacológico , Adulto , Idoso , Angiografia , Capilares/diagnóstico por imagem , Dermoscopia/métodos , Feminino , Dedos/irrigação sanguínea , Dedos/diagnóstico por imagem , Humanos , Injeções , Angioscopia Microscópica , Doença de Raynaud/diagnóstico por imagem , Doença de Raynaud/etiologia , Úlcera Cutânea/diagnóstico por imagem , Úlcera Cutânea/etiologia , Resultado do TratamentoRESUMO
Human milk fat globule-EGF factor 8 (MFG-E8), also known as lactadherin, is a secreted glycoprotein that plays essential roles in the clearance of apoptotic cells and angiogenesis. It has been reported that serum MFG-E8 levels are higher in systemic lupus erythematosus (SLE) patients compared with in healthy controls; however, a previous study reported no correlation between serum MFG-E8 levels and SLE disease activity. The objective of this study was to assess serum MFG-E8 levels and their clinical associations in patients with SLE. Serum MFG-E8 levels in 49 Japanese patients with SLE, eight with cutaneous LE, and 28 healthy controls were examined. Serum MFG-E8 levels in SLE patients were significantly higher than those in cutaneous LE patients and healthy individuals. In addition, serum MFG-E8 levels were positively correlated with the SLE Disease Activity Index score, which reflects the disease activity of SLE. Notably, the frequency of the presence of high-intensity cerebral lesions on MRI in the SLE patients with elevated serum MFG-E8 levels was significantly higher than that in SLE patients with normal serum MFG-E8 levels. These findings suggest that elevated serum MFG-E8 levels may be associated with cerebrovascular diseases or neuropsychiatric SLE in patients with SLE, and that the measurement of serum MFG-E8 levels in SLE patients is useful for risk stratification of cerebrovascular disease or cerebrovascular disease-related neuropsychiatric SLE.
Assuntos
Antígenos de Superfície/sangue , Encéfalo/diagnóstico por imagem , Lúpus Eritematoso Cutâneo/sangue , Vasculite Associada ao Lúpus do Sistema Nervoso Central/sangue , Proteínas do Leite/sangue , Feminino , Humanos , Japão , Lúpus Eritematoso Cutâneo/diagnóstico por imagem , Vasculite Associada ao Lúpus do Sistema Nervoso Central/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Medição de Risco , Testes SorológicosRESUMO
A 64-year-old Japanese woman was diagnosed as having Bowen's disease on the vulva. The histopathological findings revealed papillomatosis, koilocytosis and clumping cells with atypical nuclei. Human papillomavirus DNA was not detected on polymerase chain reaction using consensus primers. The lesion was successfully treated with topical imiquimod 5% cream after two months. Histopathologically, no atypical cells were observed after treatment. Imiquimod can be a potential treatment modality for lesions that are difficult to treat with surgical excision.
Assuntos
Aminoquinolinas/administração & dosagem , Antineoplásicos/administração & dosagem , Doença de Bowen/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Administração Tópica , Aminoquinolinas/uso terapêutico , Antineoplásicos/uso terapêutico , Doença de Bowen/patologia , Feminino , Humanos , Imiquimode , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Resultado do TratamentoAssuntos
Butanóis/efeitos adversos , Pigmentação da Pele/efeitos dos fármacos , Pele/patologia , Vitiligo/induzido quimicamente , Administração Cutânea , Adulto , Idoso , Idoso de 80 Anos ou mais , Antígenos CD/análise , Antígenos CD/metabolismo , Butanóis/administração & dosagem , Caderinas/análise , Caderinas/metabolismo , Estudos de Casos e Controles , Feminino , Glutamato-Cisteína Ligase/análise , Glutamato-Cisteína Ligase/metabolismo , Humanos , Imuno-Histoquímica , Masculino , Melanócitos/efeitos dos fármacos , Melanócitos/metabolismo , Pessoa de Meia-Idade , Monofenol Mono-Oxigenase/análise , Monofenol Mono-Oxigenase/antagonistas & inibidores , Monofenol Mono-Oxigenase/metabolismo , Pele/citologia , Pele/efeitos dos fármacos , Vitiligo/patologia , Adulto JovemAssuntos
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 farmacológicoAssuntos
Antirreumáticos/uso terapêutico , Hidroxicloroquina/uso terapêutico , Lúpus Eritematoso Cutâneo/tratamento farmacológico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Adolescente , Adulto , Idoso , Antirreumáticos/farmacologia , Diarreia/induzido quimicamente , Diarreia/epidemiologia , Toxidermias/epidemiologia , Toxidermias/etiologia , Feminino , Humanos , Hidroxicloroquina/efeitos adversos , Lúpus Eritematoso Cutâneo/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Pessoa de Meia-Idade , Náusea/induzido quimicamente , Náusea/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto JovemRESUMO
We report a 55-year-old Japanese woman with a two-month history of multiple pruritic erythema and erosion on her face and neck. Based on the clinical appearance, we initially diagnosed her as having pemphigus erythematosus. However, the results of a histopathological examination and a direct immunofluorescence study did not support the initial diagnosis. Additionally, anti-desmoglein 1 and 3 antibodies were all negative. Subsequently, a microscopic examination of scales revealed filaments of fungi and a fungal culture was negative for macroconidium. Using molecular biology techniques, we identified the fungus as Microsporum canis, which causes a zoonotic infection. The immune reaction to the fungi could be drastic and therefore, the eruption sometimes displays atypical clinical manifestations.
Assuntos
Amiloidose/tratamento farmacológico , Dermatomiosite/complicações , Cadeias kappa de Imunoglobulina/metabolismo , Imunoglobulinas Intravenosas/uso terapêutico , Amiloidose/diagnóstico , Amiloidose/imunologia , Amiloidose/patologia , Dermatomiosite/imunologia , Feminino , Humanos , Cadeias kappa de Imunoglobulina/imunologia , Pessoa de Meia-Idade , Pele/patologia , Resultado do TratamentoAssuntos
Aminoacil-tRNA Sintetases/imunologia , Autoanticorpos/sangue , Dermatomiosite/diagnóstico , Dermatomiosite/imunologia , Adulto , Artralgia/complicações , Artralgia/imunologia , Dermatomiosite/complicações , Feminino , Humanos , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/imunologia , Masculino , Pessoa de Meia-IdadeAssuntos
Extravasamento de Materiais Terapêuticos e Diagnósticos/complicações , Antagonistas dos Receptores Histamínicos H1/efeitos adversos , Hidroxizina/efeitos adversos , Úlcera Cutânea/etiologia , Úlcera Cutânea/patologia , Pele/patologia , Adolescente , Feminino , Humanos , Necrose/induzido quimicamenteRESUMO
We describe here a 50-year-old Japanese man with nephrogenic systemic fibrosis. He had been suffering from chronic renal insufficiency and had been treated with haemodialysis. He had undergone magnetic resonance angiography using gadodiamide 7 years previously. One month after magnetic resonance angiography, he noted swelling, hotness, induration and pain in his left arm. The same symptoms gradually spread over his lower extremities, resulting in flexion contractures with limited range of motion. Physical examination revealed skin sclerosis on his extremities with a glossy brownish skin surface. Histologically, increased collagen fibres with high cellularity were seen in the dermis and subcutaneous septa. Thickened fascia was also noted, as well as osseous metaplasia under the fascia. Computed tomography of the whole body revealed multiple calcification of the fascia in many muscles. Treatment with intravenous sodium thiosulphate did not result in any clinical improvement.