Assuntos
Fármacos Dermatológicos/uso terapêutico , Diterpenos/uso terapêutico , Dermatoses Faciais/tratamento farmacológico , Ceratose Actínica/tratamento farmacológico , Dermatoses do Couro Cabeludo/tratamento farmacológico , Dermatoses Faciais/diagnóstico por imagem , Géis , Humanos , Ceratose Actínica/diagnóstico por imagem , Microscopia Confocal , Pessoa de Meia-Idade , Estudos Prospectivos , Dermatoses do Couro Cabeludo/diagnóstico por imagemRESUMO
We report a 10-year-old boy presenting with palmoplantar pustular psoriasis, resistant to topical and systemic treatments, who was successfully treated with subcutaneous etanercept (0.4 mg/kg) twice a week for 1 month. Maintenance therapy was extended for 18 months in combination with near ultraviolet light therapy without any adverse effect. Etanercept may be a safe and effective alternative for severe palmoplantar pustular psoriasis in children.
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Imunoglobulina G/uso terapêutico , Imunossupressores/uso terapêutico , Psoríase/tratamento farmacológico , Psoríase/radioterapia , Receptores do Fator de Necrose Tumoral/uso terapêutico , Terapia Ultravioleta/métodos , Criança , Terapia Combinada , Etanercepte , Humanos , Masculino , Resultado do TratamentoRESUMO
Introducción: El vitiligo es una alteración cutánea con un carácter predominantemente autoinmunitario, caracterizada por despigmentación de la piel y del pelo. En los niños, además de ser un problema estético constituye un reto terapéutico, ya que los tratamientos estándar (fototerapia y corticoesteroides) producen frecuentes efectos adversos. Materiales y métodos: En un estudio retrospectivo se evaluó la respuesta del tacrolimus tópico al 0,1 % durante un año, en 22 niños con vitiligo, en seguimiento en la Unidad de Dermatología Pediátrica del Hospital La Paz, durante el periodo comprendido de 2002 a 2008. Resultados: Se observó algún grado de repigmentación en 81,8 % de los pacientes. La repigmentación fue significativa en cara, cuello y extremidades, a los 9 meses, y en el tronco, a los 12 meses. No se observaron efectos secundarios sistémicos durante el seguimiento. Conclusión: El tacrolimus tópico podría considerarse como una opción terapéutica, en la población pediátrica con vitiligo.
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Criança , Tacrolimo , VitiligoRESUMO
The CDKN2A gene is regarded as the major familial malignant melanoma (MM) susceptibility gene. Human pigmentation is one of the main modulators of individual risk of developing MM. Therefore, the genes involved in the determination of skin colour and tanning response are potentially implicated in MM predisposition and may be useful predictors of MM risk in the general population. The human melanocortin-1 receptor gene (MC1R) plays a crucial role in pigmentation and also appears to be important in MM. The OCA2 gene has emerged as a new and significant determinant of human iris colour variation. We present a case-control study in Spanish population including 390 consecutive patients with melanoma and 254 control subjects. Sequence analysis of the entire coding region and genotyping of 5 tag-SNPs in the genomic region of MC1R was performed. We identified 27 variants, two reaching statistical significance [R160W (OR: 4.18, 95% CI: 1.24-14.04, P = 0.02) and D294H (OR: 3.10, 95% CI: 1.37-7.01, P = 0.01)] and we detected two novel non-synonymous changes: V92L and T308M. Odds ratio for carrying two functional variants was 4.25 (95% CI: 2.30-7.84, P = 3.63 x 10(-6)). Haplotypes of the entire MC1R region have been established, and we observed an enrichment of a rare European haplotype similar to African values carrying variants V92M and I155T. In addition, three potentially functional SNPs were selected in p16/CDKN2A and in the promoter region of OCA2/HERC2. Our data for CDKN2A gene did not reach statistically significant results for any of the two studied alleles. We found that the variant allele A > G of OCA2/HERC2 (rs12913832) was associated with pigmentation features: eye, hair and skin colour; P-values = 1.8 x 10(-29), 9.2 x 10(-16), 1.1 x 10(-3), respectively, validating previous results.
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Genes p16 , Fatores de Troca do Nucleotídeo Guanina/genética , Melanoma/genética , Proteínas de Membrana Transportadoras/genética , Receptor Tipo 1 de Melanocortina/genética , Neoplasias Cutâneas/genética , Regiões 3' não Traduzidas , Alelos , Estudos de Casos e Controles , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Melanoma/patologia , Análise Multivariada , Fenótipo , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Fatores de Risco , Pele/patologia , Neoplasias Cutâneas/patologia , Espanha , Ubiquitina-Proteína LigasesAssuntos
Amidas/efeitos adversos , Anestésicos Locais/efeitos adversos , Dermatite Alérgica de Contato/etiologia , Hipersensibilidade a Drogas/etiologia , Hemorroidas/tratamento farmacológico , Alérgenos , Amidas/uso terapêutico , Anestésicos Locais/uso terapêutico , Dermatite Alérgica de Contato/diagnóstico , Dibucaína/efeitos adversos , Hipersensibilidade a Drogas/diagnóstico , Feminino , Humanos , Irritantes , Pessoa de Meia-Idade , PomadasRESUMO
No disponible
No disponible
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Humanos , Masculino , Adulto , Erisipeloide/microbiologia , Erisipela Suína/transmissão , Erysipelothrix/isolamento & purificação , Infecções por Erysipelothrix/microbiologiaAssuntos
Doenças dos Trabalhadores Agrícolas/diagnóstico , Criação de Animais Domésticos , Dermatite Ocupacional/diagnóstico , Erisipeloide/diagnóstico , Erysipelothrix/isolamento & purificação , Pesquisadores , Adulto , Doenças dos Trabalhadores Agrícolas/microbiologia , Animais , Dermatite Ocupacional/microbiologia , Erisipeloide/microbiologia , Erisipeloide/transmissão , Humanos , Perna (Membro) , Masculino , Suínos/microbiologia , Erisipela Suína/microbiologiaRESUMO
Human pigmentation appears to be one of the main modulators of individual risk of developing malignant melanoma (MM). A large number of genes are known to be involved in rare pigmentary disorders and explain most of the variation in pigmentation phenotypes seen in human populations. This Spanish case-control study included 205 patients with melanoma and 245 control subjects. Thirty-one single nucleotide polymorphisms (SNPs) in genes that had been mainly associated with congenital pigmentation syndromes (ADTB3A, ATRN, CHS1, EDNRB, HPS, KIT, MGRN1, MITF, MLANA, MYO5A, MYO7A, OA1, OCA2, PAX3 and SOX10) were selected. We found that the variant allele of OCA2 R419Q (rs1800407) was associated with increased risk of MM (OR 1.55, 95% CI 1.04-2.31, P = 0.03). This effect on melanoma risk appeared to be stronger among individuals with solar lentigines, or at least 50 nevi. We also describe, for the first time, an association with the variant S1666C (rs2276288) in the MYO7A gene (OR 1.35; 95% CI 1.04-1.76; P = 0.03). Again, this association appeared to be stronger in several phenotypic groups such as individuals with fair skin and those with childhood sunburns. We also found that several variants in the pigmentation genes considered were associated with intermediate phenotypic characteristics. Our findings highlight the potential importance of pigmentation genes in sporadic MM susceptibility.
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Predisposição Genética para Doença/genética , Melanoma/genética , Proteínas de Membrana Transportadoras/genética , Miosinas/genética , Pigmentação/genética , Polimorfismo de Nucleotídeo Único/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Melanoma/etnologia , Pessoa de Meia-Idade , Análise Multivariada , Miosina VIIa , Fenótipo , Fatores de Risco , Neoplasias Cutâneas/etnologia , EspanhaRESUMO
BACKGROUND: Vitamin D serum levels have been found to be related to sun exposure and diet, together with cell differentiation, growth control and consequently, cancer risk. Vitamin D receptor (VDR) genotypes may influence cancer risk; however, no epidemiological studies in sporadic breast cancer (BC) or malignant melanoma (MM) have been performed in a southern European population. In this study, the VDR gene has been evaluated in two epithelial cancers BC and MM. METHODS: We have conducted an analysis in 549 consecutive and non-related sporadic BC cases and 556 controls, all from the Spanish population, and 283 MM cases and 245 controls. Genotyping analyses were carried out on four putatively functional SNPs within the VDR gene. RESULTS: An association with the minor allele A of the non-synonymous SNP rs2228570 (rs10735810, FokI, Met1Thr) was observed for BC, with an estimated odds ratio (OR) of 1.26 (95% CI = 1.02-1.57; p = 0.036). The synonymous variant rs731236 (TaqI) appeared to be associated with protection from BC (OR = 0.80, 95%CI = 0.64-0.99; p = 0.047). No statistically significant associations with MM were observed for any SNP. Nevertheless, sub-group analyses revealed an association between rs2228570 (FokI) and absence of childhood sunburns (OR = 0.65, p = 0.003), between the 3'utr SNP rs739837 (BglI) and fair skin (OR = 1.31, p = 0.048), and between the promoter SNP rs4516035 and the more aggressive tumour location in head-neck and trunk (OR = 1.54, p = 0.020). CONCLUSION: In summary, we observed associations between SNPs in the VDR gene and BC risk, and a comprehensive analysis using clinical and tumour characteristics as outcome variables has revealed potential associations with MM. These associations required confirmation in independent studies.
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Neoplasias da Mama/genética , Melanoma/genética , Receptores de Calcitriol/genética , Neoplasias Cutâneas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , Intervalos de Confiança , Feminino , Genótipo , Humanos , Pessoa de Meia-Idade , Razão de Chances , Polimorfismo de Nucleotídeo Único , Espanha , Luz Solar , Adulto JovemRESUMO
We present a female patient who developed mucosal and skin hyperpigmentation due to metastatic malignant melanoma. Diffuse cutaneous melanosis is a rare entity that complicates a small percentage of metastatic melanomas, confering a fatal prognosis. We discuss briefly the current evidence on pathogenesis of melanosis arising from metastatic melanoma.
