Syndrome in question

Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmen-tation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness

Dermoscopy of dermatofibrosarcoma protuberans : what do we know?

Background: Dermatofibrosarcoma protuberans (DFSP) is an uncommon mesenchymal tumor of in-termediate malignancy. Its rarity and slow progression often imply a delayed diagnosis. There are few previous reports of dermoscopic features of DFSP and most are single case descriptions.Objectives: To report 2 cases of DFSP and their dermoscopic features, as well as conduct a review of all previous cases published addressing the use of dermoscopy in this tumor.Methods: We conducted a literature search for all dermoscopic cases of DFSP. In addition, we pre-sented 2 additional cases and compared them to the earlier findings.Results: We summarized the main dermoscopic findings of DFSP based on analysis from 32 patients. The most common features of this tumor are the presence of vessels (81%), followed by a pigmented network (78%) and a pinkish background (66%).Conclusions: DFSP can mimic benign lesions and the diagnosis may be challenging. Dermoscopy is an important tool that may enhance clinical suspicion toward the diagnosis of DFSP

Polymorphisms in NFKB1 and CYP19A1 genes and risk of cutaneous melanoma

Base teórica O melanoma é a principal causa de morte por câncer de pele, embora corresponda a 1% de todos os tumores malignos. A etiologia do melanoma é complexa, envolvendo fatores genéticos, fenotípicos e ambientais. O fator nuclearkB (NF-kB) tem um papel fundamental na resposta imune e na inflamação, modulando a expressão de quimiocinas e citocinas inflamatórias. Além disso, a sua ativação pode induzir a transcrição de inibidores de apoptose e fatores associados com crescimento tumoral, angiogênese e metástases. O polimorfismo 94 ins/del ATTG (rs28362491) localiza-se no gene NFKB1 e tem sido associado a vários tipos de neoplasias. Na população sueca, o genótipo ATTG2/ATTG2 foi associado com risco de melanoma. O gene CYP19A1 codifica a enzima aromatase, um membro da família do citocromo P450. A aromatase é expressa em tecidos extragonadais, incluindo a pele, e a sua atividade já foi demonstrada em células de melanoma maligno. Uma das variantes de CYP19A1, o TCT ins/del (rs11575899) foi associada com o aumento de incidência de neoplasias, embora com resultados variados. No entanto, não existem estudos deste polimorfismo e melanoma. Objetivo: O objetivo deste estudo caso-controle foi examinar as duas variantes genéticas do gene NFKB1 (rs28362491) e CYP19A1 (rs11575899) e sua relação com a susceptibilidade ao melanoma em uma população do sul do Brasil. Métodos: Um total de 117 casos de melanoma cutâneo e 116 controles foram recrutados no Hospital de Clínicas de Porto Alegre, Brasil. O consentimento informado por escrito foi obtido de todos os participantes antes da inclusão no estudo. O fototipo foi documentado, assim como dados das lesões tumorais de melanoma cutâneo. Os genótipos das variantes dos genes NFKB1 (rs28362491) e CYP19A1 (rs11575899) foram analisados a partir de DNA genômico utilizando método de PCR e análise de fragmentos. Resultados: A freqüência do genótipo dos pacientes com melanoma foi significativamente diferente dos controles. O genótipo ATTG2/ATTG2 mostrou associação com o risco de melanoma (OR=1,78; IC 95% 1,06-3,00; p = 0,03). Além disso, a associação parece ter um efeito dose: para cada alelo ins no genótipo, o risco de melanoma aumentava (OR=1,51; IC 95% 1,08-2,11; p=0,017). Em relação ao polimorfismo CYP19A1, a freqüência do genótipo 11 (del/del) foi maior nos pacientes do que os controles (OR=1,85; IC 95% 1,06-3,22; p = 0,03). O genótipo 11 foi mais prevalente no grupo de fototipos claros quando comparados aos mais escuros (67,9% x 51,0% respectivamente; p = 0,016). Conclusões: Os genótipos ATTG2/ATTG2 (rs28362491) do gene NFKB1 e del/del (rs11575899) do gene CYP19A1 estão associados com o risco de desenvolver melanoma e parecem ser marcadores genéticos de suscetibilidade para a neoplasia na população Sul-brasileira.Backround: Melanoma is a leading cause of death from skin cancers, although it represents 1% of all malignant tumors. The etiology of melanoma is complex, involving genetic, phenotypical and environmental factors. The Nuclear factor-B (NF-B) has a critical role in the innate and adaptive immune responses and inflammation, modulating the expression of chemokines and inflammatory cytokines. In addition, its activation can induce the transcription of inhibitors of apoptosis and factors that are associated with tumor angiogenesis, metastasis and growth. The 94 ins/del ATTG (rs28362491) polymorphism located in the NFKB1 gene has been associated to various cancers types. In melanoma, the ATTG2/ATTG2 genotype of NFKB1 was correlated with increased risk in the Swedish population. The CYP19A1 gene encodes the enzyme aromatase, a member of the cytochrome P450 superfamily. Aromatase is expressed in extragonadal sites, including the skin, and its activity has been demonstrated in malignant melanoma tissue. One of CYP19A1 variants, the TCT insertion/deletion at intron 4 (rs11575899) has been associated with increased incidence of cancer, albeit with conflicting results. However, no studies addressing this polymorphism and melanoma have been conducted. Objectives: The aim of the present case–control study was to examine two genetic variations at the NFKB1 gene (rs28362491) and the CYP19A1 gene (rs11575899) and their relation to melanoma susceptibility in a southern Brazilian population. Methods: A total of 117 cases of cutaneous melanoma and 116 controls were recruited at the Hospital de Clínicas de Porto Alegre, Brazil. Written informed consent was obtained from all patients prior to inclusion in the study. Skin phototype was documented, as well as data from primary lesions of patients with cutaneous melanoma. The genotypes of variants of genes NFKB1 (rs28362491) and CYP19A1 (rs11575899) were analyzed in both groups with genomic DNA samples. Results: The overall genotype frequency of melanoma patients was significantly different from controls. The frequency for ATTG2/ATTG2 genotype in the logistic regression demonstrated an association between the variant and melanoma patients (OR=1.78; 95%CI: 1.06-3.00; p=0.03). Likewise, this association was found to have a dose effect: for each ins allele in the genotype, the risk of melanoma increased (OR=1.51; 95%CI: 1.08-2.11; p=0.017). Regarding the CYP19A1 polymorphism, frequency of genotype 11 (del/del) was higher in the patients than the controls (OR=1.85; 95% CI 1.06-3.22; p=0.03). Interestingly, the genotype 11 was more common in the fair skin group (67.9% versus 51.0% in the lighter and darker phototypes, respectively; p=0.016). Conclusions: The NFKB1 ATT2/ATTG2 (rs28362491) genotype and the CYP19A1 del/del genotype (rs11575899) are significantly associated with melanoma risk and appear to be a genetic marker of susceptibility in melanoma in our southern Brazilian population

Polymorphisms in NFKB1 and CYP19A1 genes and risk of cutaneous melanoma

Base teórica O melanoma é a principal causa de morte por câncer de pele, embora corresponda a 1% de todos os tumores malignos. A etiologia do melanoma é complexa, envolvendo fatores genéticos, fenotípicos e ambientais. O fator nuclearkB (NF-kB) tem um papel fundamental na resposta imune e na inflamação, modulando a expressão de quimiocinas e citocinas inflamatórias. Além disso, a sua ativação pode induzir a transcrição de inibidores de apoptose e fatores associados com crescimento tumoral, angiogênese e metástases. O polimorfismo 94 ins/del ATTG (rs28362491) localiza-se no gene NFKB1 e tem sido associado a vários tipos de neoplasias. Na população sueca, o genótipo ATTG2/ATTG2 foi associado com risco de melanoma. O gene CYP19A1 codifica a enzima aromatase, um membro da família do citocromo P450. A aromatase é expressa em tecidos extragonadais, incluindo a pele, e a sua atividade já foi demonstrada em células de melanoma maligno. Uma das variantes de CYP19A1, o TCT ins/del (rs11575899) foi associada com o aumento de incidência de neoplasias, embora com resultados variados. No entanto, não existem estudos deste polimorfismo e melanoma. Objetivo: O objetivo deste estudo caso-controle foi examinar as duas variantes genéticas do gene NFKB1 (rs28362491) e CYP19A1 (rs11575899) e sua relação com a susceptibilidade ao melanoma em uma população do sul do Brasil. Métodos: Um total de 117 casos de melanoma cutâneo e 116 controles foram recrutados no Hospital de Clínicas de Porto Alegre, Brasil. O consentimento informado por escrito foi obtido de todos os participantes antes da inclusão no estudo. O fototipo foi documentado, assim como dados das lesões tumorais de melanoma cutâneo. Os genótipos das variantes dos genes NFKB1 (rs28362491) e CYP19A1 (rs11575899) foram analisados a partir de DNA genômico utilizando método de PCR e análise de fragmentos. Resultados: A freqüência do genótipo dos pacientes com melanoma foi significativamente diferente dos controles. O genótipo ATTG2/ATTG2 mostrou associação com o risco de melanoma (OR=1,78; IC 95% 1,06-3,00; p = 0,03). Além disso, a associação parece ter um efeito dose: para cada alelo ins no genótipo, o risco de melanoma aumentava (OR=1,51; IC 95% 1,08-2,11; p=0,017). Em relação ao polimorfismo CYP19A1, a freqüência do genótipo 11 (del/del) foi maior nos pacientes do que os controles (OR=1,85; IC 95% 1,06-3,22; p = 0,03). O genótipo 11 foi mais prevalente no grupo de fototipos claros quando comparados aos mais escuros (67,9% x 51,0% respectivamente; p = 0,016). Conclusões: Os genótipos ATTG2/ATTG2 (rs28362491) do gene NFKB1 e del/del (rs11575899) do gene CYP19A1 estão associados com o risco de desenvolver melanoma e parecem ser marcadores genéticos de suscetibilidade para a neoplasia na população Sul-brasileira.Backround: Melanoma is a leading cause of death from skin cancers, although it represents 1% of all malignant tumors. The etiology of melanoma is complex, involving genetic, phenotypical and environmental factors. The Nuclear factor-B (NF-B) has a critical role in the innate and adaptive immune responses and inflammation, modulating the expression of chemokines and inflammatory cytokines. In addition, its activation can induce the transcription of inhibitors of apoptosis and factors that are associated with tumor angiogenesis, metastasis and growth. The 94 ins/del ATTG (rs28362491) polymorphism located in the NFKB1 gene has been associated to various cancers types. In melanoma, the ATTG2/ATTG2 genotype of NFKB1 was correlated with increased risk in the Swedish population. The CYP19A1 gene encodes the enzyme aromatase, a member of the cytochrome P450 superfamily. Aromatase is expressed in extragonadal sites, including the skin, and its activity has been demonstrated in malignant melanoma tissue. One of CYP19A1 variants, the TCT insertion/deletion at intron 4 (rs11575899) has been associated with increased incidence of cancer, albeit with conflicting results. However, no studies addressing this polymorphism and melanoma have been conducted. Objectives: The aim of the present case–control study was to examine two genetic variations at the NFKB1 gene (rs28362491) and the CYP19A1 gene (rs11575899) and their relation to melanoma susceptibility in a southern Brazilian population. Methods: A total of 117 cases of cutaneous melanoma and 116 controls were recruited at the Hospital de Clínicas de Porto Alegre, Brazil. Written informed consent was obtained from all patients prior to inclusion in the study. Skin phototype was documented, as well as data from primary lesions of patients with cutaneous melanoma. The genotypes of variants of genes NFKB1 (rs28362491) and CYP19A1 (rs11575899) were analyzed in both groups with genomic DNA samples. Results: The overall genotype frequency of melanoma patients was significantly different from controls. The frequency for ATTG2/ATTG2 genotype in the logistic regression demonstrated an association between the variant and melanoma patients (OR=1.78; 95%CI: 1.06-3.00; p=0.03). Likewise, this association was found to have a dose effect: for each ins allele in the genotype, the risk of melanoma increased (OR=1.51; 95%CI: 1.08-2.11; p=0.017). Regarding the CYP19A1 polymorphism, frequency of genotype 11 (del/del) was higher in the patients than the controls (OR=1.85; 95% CI 1.06-3.22; p=0.03). Interestingly, the genotype 11 was more common in the fair skin group (67.9% versus 51.0% in the lighter and darker phototypes, respectively; p=0.016). Conclusions: The NFKB1 ATT2/ATTG2 (rs28362491) genotype and the CYP19A1 del/del genotype (rs11575899) are significantly associated with melanoma risk and appear to be a genetic marker of susceptibility in melanoma in our southern Brazilian population

Polimorfismos genéticos dos genes CYP19A1 e NFKB1 e o risco de melanoma cutâneo

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Comparação entre laser Erbium Fracionado não Ablativo 1340 nm e microagulhamento para tratamento de cicatrizes atróficas de acne : ensaio clínico randomizado

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