Vanessa Priscilla Martins da Silva

• MD PhD
• Hospital Clínic de Barcelona

Purpose Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach. Methods Whole-genome copy-number findings in patients with melanoma predisposition syndrome congenital melanocytic nevus were extrapolated to a sporadic melanoma cohort. Functional effects of duplication...

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies suggest that germline genetic factors may influence CMN development. In CMN patients from the U.K., genetic variants in MC1R, such as p.V92M and loss‐of‐fu...

Diagnosis of Sutton naevi with atypical presentation using dermoscopy can be difficult. Reflectance confocal microscopy may help in making a diagnosis. This study retrospectively characterized lesions that had been excised in order to avoid the possibility of melanoma, which were subsequently diagnosed histologically as Sutton naevi (n = 21, 37%); p...

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies suggest that germline genetic factors may influence CMN development. In CMN patients from the U.K., genetic variants in the MC1R gene, such as p.V92M and l...

Much of the heredity of melanoma remains unexplained. Using an unbiased whole genome screening approach for copy number we identify here a novel melanoma predisposing factor, familial duplications of gene PPP2R3B, encoding a regulatory unit of critical phosphatase PP2A. Significant correlation between expression of PPP2R3B in tumour tissue and surv...

La dermatoscopia es una técnica no invasiva realizada in vivo para evaluación de lesiones de piel que utiliza un dermatoscopio, permitiendo la visualización de estructuras formadas por el pigmento y por los vasos que no se pueden ver a simple vista. Los médicos estetas frecuentemente tratan lesiones cutáneas, motivo por lo cual se estimula la difus...

Large and giant congenital melanocytic nevi (CMN) are rare melanocytic lesions mostly caused by postzygotic NRAS alteration. Molecular characterization is usually focused on NRAS and BRAF genes in a unique biopsy sample of the CMN. However, large/giant CMN may exhibit phenotypic differences among distinct areas, and patients differ in features such...

Background: Garment-related terms have been used to describe the pattern of distribution of giant congenital melanocytic nevi (GCMN). Objective: We sought to describe patterns of distribution of GCMN and propose a classification scheme. Methods: Photographic records of patients with GCMN from the Hospital Clinic of Barcelona were analyzed and...

Infantile Haemangioma (IH) is a very common benign vascular tumour with a reported incidence of 4-10% in infants(1) , and no clear genetic basis described as yet(2) . Congenital melanocytic nevi (CMN) are benign melanocytic tumours present in 1% of newborns, which when multiple are caused by post-zygotic mutations in the gene NRAS in the majority o...

Although nevi with a peripheral rim of globules (peripheral globular nevi [PGN]) observed with dermoscopy are associated with enlarging melanocytic nevi, their actual growth dynamics remain unknown. Because change is a sensitive but nonspecific marker for melanoma, beginning to understand the growth patterns of nevi may improve the ability of physi...

Melasma is a chronic, acquired hyperpigmentation disease on sun-exposed areas of the skin, which affects patients' quality of life. To assess the impact on the quality of life of women living in Florianópolis, Brazil, through questionnaire (MelasQol), and investigate the clinical aspects and risk factors for melasma, correlating them with the Melas...

Leprosy is a chronic infectious disease caused by Mycobacterium leprae, which primarily affects the skin and peripheral nerves. Brazil remains as the country with the second largest number of cases in the world. We report the case of three patients diagnosed with indeterminate leprosy in the same family. Two patients were HIV positive. An active se...

Dermoscopy allows the early detection of melanomas. The preoperative determination of Breslow index by dermoscopy could be useful in planning the surgical approach and in selecting patients for sentinel lymph node biopsy. This study aims at describing the dermoscopic features of thin melanomas and comparing melanomas in situ with invasive melanomas...

Objetivo: Caracterizar a demanda do setor de emergência de clínica médica do Hospital Universitário da Universidade Federal de Santa Catarina (UFSC) no ano de 2009, pico da epidemia de Influenza H1N1. Método: Foram analisadas as fichas de atendimentos prestados na emergência de 652 pacientes não internados e 230 pacientes internados, no ano de 2009...