Subject(s)
Dermatologic Agents/therapeutic use , Diterpenes/therapeutic use , Facial Dermatoses/drug therapy , Keratosis, Actinic/drug therapy , Scalp Dermatoses/drug therapy , Facial Dermatoses/diagnostic imaging , Gels , Humans , Keratosis, Actinic/diagnostic imaging , Microscopy, Confocal , Middle Aged , Prospective Studies , Scalp Dermatoses/diagnostic imagingABSTRACT
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.
Subject(s)
Immunoglobulin G/therapeutic use , Immunosuppressive Agents/therapeutic use , Psoriasis/drug therapy , Psoriasis/radiotherapy , Receptors, Tumor Necrosis Factor/therapeutic use , Ultraviolet Therapy/methods , Child , Combined Modality Therapy , Etanercept , Humans , Male , Treatment OutcomeABSTRACT
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.
Subject(s)
Child , Tacrolimus , VitiligoABSTRACT
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.
Subject(s)
Genes, p16 , Guanine Nucleotide Exchange Factors/genetics , Melanoma/genetics , Membrane Transport Proteins/genetics , Receptor, Melanocortin, Type 1/genetics , Skin Neoplasms/genetics , 3' Untranslated Regions , Alleles , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Haplotypes , Humans , Melanoma/pathology , Multivariate Analysis , Phenotype , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Risk Factors , Skin/pathology , Skin Neoplasms/pathology , Spain , Ubiquitin-Protein LigasesSubject(s)
Amides/adverse effects , Anesthetics, Local/adverse effects , Dermatitis, Allergic Contact/etiology , Drug Hypersensitivity/etiology , Hemorrhoids/drug therapy , Allergens , Amides/therapeutic use , Anesthetics, Local/therapeutic use , Dermatitis, Allergic Contact/diagnosis , Dibucaine/adverse effects , Drug Hypersensitivity/diagnosis , Female , Humans , Irritants , Middle Aged , OintmentsABSTRACT
No disponible
No disponible
Subject(s)
Humans , Male , Adult , Erysipeloid/microbiology , Swine Erysipelas/transmission , Erysipelothrix/isolation & purification , Erysipelothrix Infections/microbiologySubject(s)
Agricultural Workers' Diseases/diagnosis , Animal Husbandry , Dermatitis, Occupational/diagnosis , Erysipeloid/diagnosis , Erysipelothrix/isolation & purification , Research Personnel , Adult , Agricultural Workers' Diseases/microbiology , Animals , Dermatitis, Occupational/microbiology , Erysipeloid/microbiology , Erysipeloid/transmission , Humans , Leg , Male , Swine/microbiology , Swine Erysipelas/microbiologyABSTRACT
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.
Subject(s)
Genetic Predisposition to Disease/genetics , Melanoma/genetics , Membrane Transport Proteins/genetics , Myosins/genetics , Pigmentation/genetics , Polymorphism, Single Nucleotide/genetics , Skin Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Case-Control Studies , Female , Genotype , Humans , Male , Melanoma/ethnology , Middle Aged , Multivariate Analysis , Myosin VIIa , Phenotype , Risk Factors , Skin Neoplasms/ethnology , SpainABSTRACT
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.
Subject(s)
Breast Neoplasms/genetics , Melanoma/genetics , Receptors, Calcitriol/genetics , Skin Neoplasms/genetics , Adult , Aged , Aged, 80 and over , Alleles , Case-Control Studies , Confidence Intervals , Female , Genotype , Humans , Middle Aged , Odds Ratio , Polymorphism, Single Nucleotide , Spain , Sunlight , Young AdultABSTRACT
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.