Assuntos
Secretases da Proteína Precursora do Amiloide/genética , Hidradenite Supurativa/genética , Síndrome de Klippel-Trenaunay-Weber/complicações , Glicoproteínas de Membrana/genética , Adolescente , Estudos de Casos e Controles , Códon sem Sentido , Feminino , Hidradenite Supurativa/complicações , Humanos , MasculinoAssuntos
Antígenos Ly/genética , Ceratodermia Palmar e Plantar/diagnóstico , Ativador de Plasminogênio Tipo Uroquinase/genética , Adulto , Análise Mutacional de DNA , Pé , Mãos , Homozigoto , Humanos , Ceratodermia Palmar e Plantar/genética , Masculino , Mutação de Sentido Incorreto , Índice de Gravidade de DoençaRESUMO
We report a case of eczema-like cutaneous mucormycosis caused by Rhizopus arrhizus. A 4-year-old child was presented to our hospital with a history of gradually enlarging papule and plaque in the periumbilical area for nearly 4 years since 2 weeks after his birth, and it has been misdiagnosed as eczema for nearly 3 years. Based on histopathology examination, the fungus culture test and DNA sequencing, it was revealed that R. arrhizus should be the responsible fungus for skin infection. The patient was successfully cured by combination of intravenous drip and percutaneous injection amphotericin B for nearly 3 months, and no recrudescence was seen during a follow-up of 6-month observation.
Assuntos
Anfotericina B/administração & dosagem , Antifúngicos/administração & dosagem , Dermatomicoses/diagnóstico , Dermatomicoses/patologia , Mucormicose/diagnóstico , Mucormicose/patologia , Rhizopus/isolamento & purificação , Pré-Escolar , Dermatomicoses/tratamento farmacológico , Eczema/patologia , Histocitoquímica , Humanos , Infusões Intravenosas , Injeções , Masculino , Técnicas Microbiológicas , Mucormicose/tratamento farmacológico , Análise de Sequência de DNA , Resultado do TratamentoAssuntos
Dermatomiosite/imunologia , Dermatomiosite/patologia , Dermatoses da Mão/patologia , Dermatopatias Papuloescamosas/patologia , Adulto , Doenças Autoimunes/imunologia , Doenças Autoimunes/fisiopatologia , Biópsia por Agulha , Dermatomiosite/diagnóstico , Diagnóstico Diferencial , Dermatoses da Mão/diagnóstico , Humanos , Imuno-Histoquímica , Masculino , Dermatopatias Papuloescamosas/diagnósticoAssuntos
Adenosina Desaminase/genética , Transtornos da Pigmentação/congênito , Proteínas de Ligação a RNA/genética , Criança , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Humanos , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/genética , Pele/patologiaRESUMO
BACKGROUND: TNF-α plays a key role in host defense against mycobacterial infection, and patients receiving TNF-α blocker treatment have increased susceptibility to tuberculosis disease. In the People's Republic of China, an intermediate tuberculosis-burden country, the latent tuberculosis infection (LTBI) risk in patients with psoriasis who are treated with etanercept, the safest kind of TNF-α blocker, is unknown. OBJECTIVES: This study reports the LTBI risk in patients with psoriasis after etanercept treatment and aims to answer the question of how often rescreening for LTBI should be done in order to reduce active tuberculosis infection of patients and further reduce the incidence of active tuberculosis disease. PATIENTS AND METHODS: This retrospective review evaluated patients with moderate-to-severe chronic plaque psoriasis between 2009 and 2013. All patients were excluded tuberculosis infection and received etanercept 25 mg twice weekly, then the patients were checked for LTBI 3 months after etanercept treatment to observe the incidence of LTBI and assess the need for rescreening for LTBI every 3 months. RESULTS: We retrospectively analyzed 192 patients with psoriasis with moderate-to-severe chronic plaque whose tuberculin skin test and chest X-rays were negative and who received etanercept 25 mg twice weekly. Eighteen of them were excluded because they received less than 3 months of etanercept therapy. After treatment with etanercept, four patients were found to have LTBI. CONCLUSION: In this study, the incidence of LTBI after 3 months was four in 192 (2.1%), which is higher than the annual incidence of LTBI in the People's Republic of China (0.72%), so LTBI could be expected to occur within 3 months in psoriasis patients on etanercept. Periodic screening for LTBI in the therapy course, as well as before initiating treatment, is necessary in those patients who use a TNF-α blocker. We recommend rescreening for LTBI every 3 months.
Assuntos
Etanercepte/efeitos adversos , Hospedeiro Imunocomprometido , Imunossupressores/efeitos adversos , Tuberculose Latente/induzido quimicamente , Psoríase/tratamento farmacológico , Adolescente , Adulto , Idoso , China/epidemiologia , Feminino , Humanos , Incidência , Testes de Liberação de Interferon-gama , Tuberculose Latente/diagnóstico , Tuberculose Latente/epidemiologia , Tuberculose Latente/imunologia , Tuberculose Latente/microbiologia , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Psoríase/diagnóstico , Psoríase/imunologia , Radiografia Torácica , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Teste Tuberculínico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Fator de Necrose Tumoral alfa/imunologia , Adulto JovemRESUMO
Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in exon 17 of the KIT gene in the proband and the affected son. No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1).
Assuntos
Adenosina Desaminase/genética , Povo Asiático/genética , Mutação de Sentido Incorreto/genética , Transtornos da Pigmentação/congênito , Proteínas de Ligação a RNA/genética , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/genéticaRESUMO
Alopecia areata is an unpredictable, non-scarring hair loss condition. Patchy alopecia areata sparing gray hairs is rare. Here we present 4 cases with patchy non-scarring hair loss, which attacked pigmented hairs only and spared gray hairs. It should be differentiated from vitiligo, colocalization of vitiligo and alopecia areata, and depigmented hair regrowth after alopecia areata.
RESUMO
Psoriasis is a chronic, immune-mediated inflammatory and refractory disease. The koebner phenomenon, which can be induced by trauma, is common in psoriasis patients. Herein, we report a patient with psoriasis who was treated by cupping therapy and subsequently developed the koebner phenomenon (KP) at the cupped sites. To our knowledge, it is the first report about cupping therapy leading to KP in a psoriasis patient.
Assuntos
Equimose/etiologia , Medicina Tradicional Chinesa/efeitos adversos , Psoríase/terapia , Púrpura/etiologia , Pele/lesões , Vácuo , Adulto , Claritromicina/uso terapêutico , Clobetasol/uso terapêutico , Humanos , Masculino , Ácidos Nicotínicos/uso terapêutico , Psoríase/tratamento farmacológico , Psoríase/etiologia , Psoríase/imunologia , Pele/fisiopatologiaRESUMO
In conjunction with matrix proteins, stem cell factor (SCF) plays an important role in the migration of melanocyte precursors (MPs) derived from the mouse embryo. However, no studies have demonstrated an effect of SCF on human follicular MPs migration in vitro. In this report, first we demonstrate the immature state of the follicular MPs. Then cell attachment rate was measured by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide method. Standard 48-well chemotaxis chambers were used for a transfilter migration assay. F-actin was labeled by rhodamine-conjugated phalloidin, and then organization of the actin cytoskeleton was observed by confocal microscope. In the results, we directly show that MPs adhere more strongly to fibronectin (FN), laminin (LN) and type IV collagen (CIV) than to the negative control. SCF decreased the adhesion of MPs to FN and CIV. A chemotaxis analysis showed that FN and CIV have chemotactic effects on MPs. FN showed an obvious increase in chemotactic effects on MPs with SCF treatment comparing with the control group, but there were no significant changes in the levels of chemotaxis with CIV and LN when the cells were treated with SCF. SCF was chemotactic to MPs, and the presence of FN caused a statistically significant increase in MPs migration at various concentrations of SCF. Furthermore, we showed that SCF, in combination with FN, could induce an apparent increase in actin stress fiber formation in MPs. Our results indicate that SCF, in combination with matrix proteins and in particular with FN, regulates the movement of MPs by both altering cell attachment and increasing cell chemotaxis.