Asunto(s)
Butanoles/efectos adversos , Pigmentación de la Piel/efectos de los fármacos , Piel/patología , Vitíligo/inducido químicamente , Administración Cutánea , Adulto , Anciano , Anciano de 80 o más Años , Antígenos CD/análisis , Antígenos CD/metabolismo , Butanoles/administración & dosificación , Cadherinas/análisis , Cadherinas/metabolismo , Estudios de Casos y Controles , Femenino , Glutamato-Cisteína Ligasa/análisis , Glutamato-Cisteína Ligasa/metabolismo , Humanos , Inmunohistoquímica , Masculino , Melanocitos/efectos de los fármacos , Melanocitos/metabolismo , Persona de Mediana Edad , Monofenol Monooxigenasa/análisis , Monofenol Monooxigenasa/antagonistas & inhibidores , Monofenol Monooxigenasa/metabolismo , Piel/citología , Piel/efectos de los fármacos , Vitíligo/patología , Adulto JovenRESUMEN
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.
Asunto(s)
Autoanticuerpos/sangre , Dermatomiositis/inmunología , Helicasa Inducida por Interferón IFIH1/inmunología , Enfermedades Pulmonares Intersticiales/inmunología , Factores de Edad , Progresión de la Enfermedad , Femenino , Ferritinas/sangre , Humanos , Masculino , Persona de Mediana Edad , PronósticoAsunto(s)
Dermatofibrosarcoma/radioterapia , Radioterapia de Iones Pesados , Recurrencia Local de Neoplasia/radioterapia , Neoplasias Cutáneas/radioterapia , Protocolos de Quimioterapia Combinada Antineoplásica , Quimioterapia Adyuvante , Dermatofibrosarcoma/diagnóstico por imagen , Dermatofibrosarcoma/tratamiento farmacológico , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Terapia Neoadyuvante , Recurrencia Local de Neoplasia/diagnóstico por imagen , Recurrencia Local de Neoplasia/tratamiento farmacológico , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/tratamiento farmacológicoAsunto(s)
Antirreumáticos/uso terapéutico , Hidroxicloroquina/uso terapéutico , Lupus Eritematoso Cutáneo/tratamiento farmacológico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Adolescente , Adulto , Anciano , Antirreumáticos/farmacología , Diarrea/inducido químicamente , Diarrea/epidemiología , Erupciones por Medicamentos/epidemiología , Erupciones por Medicamentos/etiología , Femenino , Humanos , Hidroxicloroquina/efectos adversos , Lupus Eritematoso Cutáneo/inmunología , Lupus Eritematoso Sistémico/inmunología , Masculino , Persona de Mediana Edad , Náusea/inducido químicamente , Náusea/epidemiología , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
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.
Asunto(s)
Carcinoma de Células Escamosas/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Histiocitosis de Células de Langerhans/genética , Quinasa I-kappa B/genética , Infecciones por Mycobacterium no Tuberculosas/genética , Neoplasias Cutáneas/genética , Neoplasias de la Tiroides/genética , Adolescente , Carcinogénesis/genética , Carcinoma de Células Escamosas/patología , Carcinoma de Células Escamosas/cirugía , Humanos , Síndromes de Inmunodeficiencia , Labio/patología , Labio/cirugía , Masculino , Mutación , Infecciones Neumocócicas , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugíaAsunto(s)
Amiloidosis/tratamiento farmacológico , Dermatomiositis/complicaciones , Cadenas kappa de Inmunoglobulina/metabolismo , Inmunoglobulinas Intravenosas/uso terapéutico , Amiloidosis/diagnóstico , Amiloidosis/inmunología , Amiloidosis/patología , Dermatomiositis/inmunología , Femenino , Humanos , Cadenas kappa de Inmunoglobulina/inmunología , Persona de Mediana Edad , Piel/patología , Resultado del TratamientoRESUMEN
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.
Asunto(s)
Inhibidores de la Liberación de Acetilcolina/uso terapéutico , Toxinas Botulínicas Tipo A/uso terapéutico , Enfermedad de Raynaud/tratamiento farmacológico , Esclerodermia Sistémica/complicaciones , Úlcera Cutánea/tratamiento farmacológico , Adulto , Anciano , Angiografía , Capilares/diagnóstico por imagen , Dermoscopía/métodos , Femenino , Dedos/irrigación sanguínea , Dedos/diagnóstico por imagen , Humanos , Inyecciones , Angioscopía Microscópica , Enfermedad de Raynaud/diagnóstico por imagen , Enfermedad de Raynaud/etiología , Úlcera Cutánea/diagnóstico por imagen , Úlcera Cutánea/etiología , Resultado del TratamientoAsunto(s)
Amiloidosis Familiar/complicaciones , Amiloidosis Familiar/inmunología , Dermatomiositis/complicaciones , Dermatomiositis/inmunología , Cadenas kappa de Inmunoglobulina/inmunología , Enfermedades Cutáneas Genéticas/complicaciones , Enfermedades Cutáneas Genéticas/inmunología , Femenino , Humanos , Adulto JovenRESUMEN
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.
Asunto(s)
Antígenos de Superficie/sangre , Encéfalo/diagnóstico por imagen , Lupus Eritematoso Cutáneo/sangre , Vasculitis por Lupus del Sistema Nervioso Central/sangre , Proteínas de la Leche/sangre , Femenino , Humanos , Japón , Lupus Eritematoso Cutáneo/diagnóstico por imagen , Vasculitis por Lupus del Sistema Nervioso Central/diagnóstico por imagen , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Medición de Riesgo , Pruebas SerológicasAsunto(s)
Aminoacil-ARNt Sintetasas/inmunología , Autoanticuerpos/sangre , Dermatomiositis/diagnóstico , Dermatomiositis/inmunología , Adulto , Artralgia/complicaciones , Artralgia/inmunología , Dermatomiositis/complicaciones , Femenino , Humanos , Enfermedades Pulmonares Intersticiales/complicaciones , Enfermedades Pulmonares Intersticiales/inmunología , Masculino , Persona de Mediana EdadRESUMEN
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.
Asunto(s)
Aminoquinolinas/administración & dosificación , Antineoplásicos/administración & dosificación , Enfermedad de Bowen/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Administración Tópica , Aminoquinolinas/uso terapéutico , Antineoplásicos/uso terapéutico , Enfermedad de Bowen/patología , Femenino , Humanos , Imiquimod , Persona de Mediana Edad , Neoplasias Cutáneas/patología , Resultado del TratamientoAsunto(s)
Extravasación de Materiales Terapéuticos y Diagnósticos/complicaciones , Antagonistas de los Receptores Histamínicos H1/efectos adversos , Hidroxizina/efectos adversos , Úlcera Cutánea/etiología , Úlcera Cutánea/patología , Piel/patología , Adolescente , Femenino , Humanos , Necrosis/inducido químicamenteRESUMEN
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.
RESUMEN
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.