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1.
Indian J Dermatol ; 67(2): 152-156, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36092195

RESUMO

Persistent, non-infectious medical complications arising from decorative tattoos have increased considerably. They are difficult to characterize clinically, and histopathology shows a wide variety of overlapping patterns, with lichenoid and granulomatous dermatitis being the most common findings. Both clinical and pathological findings are difficult to ascribe to particular ink colour. The findings in 30 biopsies from 28 patients with persistent reactions in decorative tattoos are reported, including immunohistochemical findings.

3.
Medicine (Baltimore) ; 100(22): e26207, 2021 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-34087892

RESUMO

ABSTRACT: Terry nails and Lindsay nails are similar forms of proximal apparent leukonychia (PAL). A change in nail bed vascularity is thought to be responsible for PAL. The study was aimed at investigating the frequency of PAL in patients attending a liver disease clinic, the factors associated with its presence, its value for detecting cirrhosis, its prognostic value for mortality, and associated capillaroscopic findings.A total of 521 patients were included (age range, 18-94 years; 69% men). Systematic nail photographs were evaluated by 2 independent investigators. Disease-related data were obtained from the medical records. Mortality was evaluated after 7 years of follow-up. Nailfold capillaroscopy was performed on a subset of 80 patients.PAL was present in 228 patients (43.8%; Terry nails in 205, Lindsay nails in 20, and both in 3). The kappa-coefficient of interobserver agreement was 0.82. The presence of PAL was associated with cirrhosis and, accordingly, with portal hypertension and hepatocellular dysfunction. The positive likelihood ratio of PAL for the diagnosis of cirrhosis was 1.6 (95% CI 1.3-1.92). PAL was independently associated with chronic alcohol abuse and was not a significant predictor of mortality. Venous loop dilatation and prominence of the venous plexus were observed on capillaroscopy in patients with cirrhosis but were not significantly associated with PAL.In summary, PAL is a common finding in patients from a liver clinic; it is associated with liver cirrhosis and with alcohol abuse. PAL is not associated with specific capillaroscopic findings. We propose the generic term proximal apparent leukonychia instead of classic eponymous titles to avoid confusion in the literature.


Assuntos
Hipopigmentação/diagnóstico , Cirrose Hepática/diagnóstico , Hepatopatias/patologia , Angioscopia Microscópica/métodos , Doenças da Unha/congênito , Adulto , Idoso , Alcoolismo/complicações , Capilares/patologia , Estudos Transversais , Feminino , Seguimentos , Humanos , Hipopigmentação/etiologia , Cirrose Hepática/mortalidade , Hepatopatias/complicações , Masculino , Angioscopia Microscópica/estatística & dados numéricos , Pessoa de Meia-Idade , Doenças da Unha/diagnóstico , Doenças da Unha/etiologia , Unhas/irrigação sanguínea , Unhas Malformadas/diagnóstico , Unhas Malformadas/patologia , Fotografação/métodos , Prognóstico
5.
Mol Genet Genomic Med ; 7(5): e608, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30916489

RESUMO

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Ictiose Lamelar/genética , Mutação com Perda de Função , Fenótipo , Pré-Escolar , Códon sem Sentido , Humanos , Ictiose Lamelar/patologia , Masculino , Mutação de Sentido Incorreto , Sítios de Splice de RNA
11.
Histol Histopathol ; 29(5): 641-8, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24288349

RESUMO

BACKGROUND: The majority of lip cancer is the squamous cell carcinoma (SCC) type that exhibits clinical and biological characteristics intermediate between skin and oral SCC. The aim of this study was to assess the impact of epidermal growth factor receptor (EGFR) expression on prognosis of lip squamous cell carcinoma (LSCC) and to relate it with clinicopathological features. The role of EGFR expression as a possible therapeutic target was also discussed. METHODS: A series of 55 patients with LSCC was analyzed. EGFR expression was determined by standardized immunohistochemistry (pharmDx assay) and evaluated by both manual and automated image analysis (ACIS III). The Kappa statistic test was used to evaluate the concordance of manual and automated scores. EGFR results were correlated with clinicopathologic characteristics. Statistical differences between proportions were determined by the chi-squared test (with linear-by-linear correction where appropriate). The Mann-Whitney and the Kruskal-Wallis test were employed for comparison of continuous variables. RESULTS: Correlation between manual and automated score was obtained in 50/55 cases (90.9%). EGFR expression was absent or weak in 14 cases (25.5%); borderline (2+) in 20 cases (36.4%) and positive (3+) in 21 cases (38.2%). Significant relationships were found between EGFR expression and tumour ulceration (p=0.022) and tumour thickness (p=0.002) and width (p=0.021). CONCLUSIONS: Our results revealed EGFR high expression in LSCC and its relationship with bad prognosis criteria (tumour size and ulceration).


Assuntos
Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Receptores ErbB/metabolismo , Neoplasias Labiais/metabolismo , Neoplasias Labiais/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/secundário , Feminino , Humanos , Imuno-Histoquímica/métodos , Metástase Linfática/patologia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/metabolismo , Recidiva Local de Neoplasia/patologia , Prognóstico , Adulto Jovem
12.
PLoS One ; 7(4): e33580, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22511925

RESUMO

BACKGROUND: Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.1223_1227delACAC and c.984+1G>A, were observed at high frequency, representing ~46%, ~21% and ~13% of all TGM1 gene mutations, respectively. Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region. METHODOLOGY/PRINCIPAL FINDINGS: In order to determine whether these mutations were inherited from a common ancestor in the Galician population, and to estimate the number of generations since their initial appearance, we carried out a haplotype-based analysis by way of genotyping 21 SNPs within and flanking the TGM1 gene and 10 flanking polymorphic microsatellite markers spanning a region of 12 Mb. Two linkage disequilibrium based methods were used to estimate the time to the most recent common ancestor (TMRCA), while a Bayesian-based procedure was used to estimate the age of the two mutations. Haplotype reconstruction from unphased genotypes of all members of the affected pedigrees indicated that all carriers for each of the two mutations harbored the same haplotypes, indicating common ancestry. CONCLUSIONS/SIGNIFICANCE: In good agreement with the documentation record and the census, both mutations arose between 2,800-2,900 years ago (y.a.), but their TMRCA was in the range 600-1,290 y.a., pointing to the existence of historical bottlenecks in the region followed by population growth. This demographic scenario finds further support on a Bayesian Coalescent Analysis based on TGM1 haplotypes that allowed estimating the occurrence of a dramatic reduction of effective population size around 900-4,500 y.a. (95% highest posterior density) followed by exponential growth.


Assuntos
Efeito Fundador , Ictiose/genética , Transglutaminases/genética , Sequência de Bases , Teorema de Bayes , Genes Recessivos , Haplótipos , Humanos , Ictiose/epidemiologia , Desequilíbrio de Ligação , Repetições de Microssatélites , Mutação Puntual , Deleção de Sequência , Espanha/epidemiologia
13.
Int J Dermatol ; 51(4): 427-30, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22435431

RESUMO

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase-1 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1 (TGM1) gene in chromosome 14. CASE REPORT: We report a patient with a severe LI phenotype who has a homozygous putative splicing mutation in the TGM1 gene. Our aim is to assess the pathologic effect of the TGM1 c.984+1G>A by splicing assays and bioinformatic tools. RESULTS: c.984+1G>A mutation created two alternative TGM1 mRNA splice variants that included 30 or 32 nucleotides of the 5' of intron 6. At the protein level, the partial in-frame aberrant transcript retaining 30 bp of intron 6 led to the insertion of 10 amino acids (p.Met329_Val330ins10) at the catalytic core domain of TGM1 protein (codons 247-572), whereas the transcript with the insertion of 32 nucleotides is predicted to encode a truncated protein (p.Val330MetfsX12). CONCLUSION: Our splicing assay, together with bioinformatic prediction tools, supports the pathological effect of the recently identified c.984+1G>A mutation in the TGM1 gene and unravels the molecular mechanism by which c.984+1G>A acts.


Assuntos
Ictiose Lamelar/genética , Mutação , Transglutaminases/genética , Portador Sadio , Criança , Análise Mutacional de DNA , Feminino , Humanos , Transglutaminases/deficiência
14.
J Am Acad Dermatol ; 67(2): 240-4, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22000705

RESUMO

BACKGROUND: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. OBJECTIVES: We sought to describe the prevalence of ARCI. METHODS: We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. RESULTS: We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. LIMITATIONS: The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. CONCLUSIONS: The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.


Assuntos
Bases de Dados Factuais/estatística & dados numéricos , Eritrodermia Ictiosiforme Congênita/epidemiologia , Ictiose Lamelar/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Métodos Epidemiológicos , Feminino , Humanos , Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/genética , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prevalência , Encaminhamento e Consulta/estatística & dados numéricos , Espanha/epidemiologia , Adulto Jovem
15.
Dermatol Online J ; 17(11): 15, 2011 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-22136871

RESUMO

Mastocytosis can sometimes resemble other skin conditions, especially pigmented ones, not only clinically but also dermatoscopically. We report the case of a woman with the diagnosis of cutaneous mastocytosis mimicking multiple melanocytic nevi. Melanocytic stimulation can be induced by high levels of stem cell factor. The progressive increase in the number of pigmented lesions in a patient should lead us to perform a biopsy to search for mastocytosis.


Assuntos
Dermoscopia , Mastocitose Cutânea/diagnóstico , Nevo Pigmentado/diagnóstico , Adulto , Biópsia , Medula Óssea/patologia , Antígenos CD2/análise , Diagnóstico Diferencial , Feminino , Humanos , Subunidade alfa de Receptor de Interleucina-2/análise , Mastócitos/química , Mastócitos/patologia , Mastocitose Cutânea/genética , Mastocitose Cutânea/patologia , Mutação , Proteínas Proto-Oncogênicas c-kit/genética , Fator de Células-Tronco/fisiologia
16.
Photodermatol Photoimmunol Photomed ; 27(5): 245-7, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21950628

RESUMO

Systemic photosensitivity due to the intake of plants or herbal compounds is a rare phenomenon. Goji berries are widely used as a well-being and anti-aging remedy. In spite of this, only a few adverse reactions and no cases of photosensitivity have been reported to date. A 53-year-old male consulted due to a pruriginous eruption located on sun-exposed areas of 2 weeks of duration. He had been taking Goji berries and infusions of cat's claw herb for 5 and 3 months, respectively. Minimal erythema dose for UVB (MED-UVB) was diminished when the patient was taking these products, and became normal when they were withdrawn. Photoprovocation tests with Goji berries and cat's claw were performed. MED-UVB decreased after the intake of Goji berries, and was normal with cat's claw. We report the first case of systemic photosensitivity due to Goji berries.


Assuntos
Eritema/etiologia , Frutas/efeitos adversos , Lycium/efeitos adversos , Transtornos de Fotossensibilidade/etiologia , Raios Ultravioleta/efeitos adversos , Eritema/patologia , Frutas/química , Humanos , Lycium/química , Masculino , Pessoa de Meia-Idade , Transtornos de Fotossensibilidade/patologia
20.
J Cutan Pathol ; 36 Suppl 1: 16-9, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19775390

RESUMO

BACKGROUND: Ulceration and osteoclast-like giant cells are two pathological features uncommonly seen in dermatofibromas. To our knowledge, the presence of these features has not been previously described within the same lesion. METHODS: We report the clinical, histopathological and immunohistochemical findings of a 38-year-old man with an ulcerated dermatofibroma (DF) on the sole containing OLGC. COMMENTS: DF, or cutaneous fibrous histiocytoma, is a frequent dermatological lesion with many clinicopathological variants. Therefore, a correct diagnosis is not always straightforward, especially when two rare features co-exist in the same lesion. Differential diagnosis was performed with cutaneous and even non-cutaneous lesions. An explanation for the clinicopathological findings is also described.


Assuntos
Doenças do Pé/patologia , Úlcera do Pé/patologia , Células Gigantes/patologia , Histiocitoma Fibroso Benigno/patologia , Neoplasias Cutâneas/patologia , Adulto , Diagnóstico Diferencial , Doenças do Pé/metabolismo , Doenças do Pé/cirurgia , Úlcera do Pé/metabolismo , Úlcera do Pé/cirurgia , Células Gigantes/metabolismo , Histiocitoma Fibroso Benigno/metabolismo , Histiocitoma Fibroso Benigno/cirurgia , Humanos , Imuno-Histoquímica , Masculino , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/cirurgia
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