RESUMO
This is a case of twins who had a rarely seen diagnosis of congenital erosive and vesicular dermatosis. This report includes a description of the case and discussion around the topic. Click https://www.wileyhealthlearning.com/#/online-courses/2fd90f74-cd50-4ae4-aeef-61d902f63ec0 for the corresponding questions to this CME article.
Assuntos
Atresia Esofágica , Dermatopatias Vesiculobolhosas , Cicatriz/patologia , Atresia Esofágica/complicações , Humanos , Dermatopatias Vesiculobolhosas/complicaçõesRESUMO
We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. We show here that these common European mutations are ancestral variants carried on conserved haplotypes. To facilitate comprehensive analysis of other populations, we report a strategy for full sequencing of this large, highly repetitive gene, and we describe 15 variants, including seven that are prevalent. All the variants are either nonsense or frameshift mutations that, in representative cases, resulted in loss of filaggrin production in the epidermis. In an Irish case-control study, the five most common European mutations showed a strong association with moderate-to-severe childhood eczema (chi2 test: P = 2.12 x 10(-51); Fisher's exact test: heterozygote odds ratio (OR) = 7.44 (95% confidence interval (c.i.) = 4.9-11.3), and homozygote OR = 151 (95% c.i. = 20-1,136)). We found three additional rare null mutations in this case series, suggesting that the genetic architecture of filaggrin-related atopic dermatitis consists of both prevalent and rare risk alleles.
Assuntos
Dermatite Atópica/genética , Predisposição Genética para Doença , Ictiose Vulgar/genética , Proteínas de Filamentos Intermediários/genética , Sequência de Bases , Códon sem Sentido/genética , Epiderme/metabolismo , Proteínas Filagrinas , Mutação da Fase de Leitura/genética , Frequência do Gene , Humanos , Proteínas de Filamentos Intermediários/metabolismo , Irlanda , Dados de Sequência Molecular , Análise de Sequência de DNA , População BrancaRESUMO
We report the case of a 47-year-old woman who first presented with erythematous plaques on the upper portion of her right arm, which developed into an annular eruption involving the face, upper portion of the trunk, and limbs in a predominantly photosensitive distribution. Findings from histopathologic evaluation of a lesion from her arm were consistent with the clinical diagnosis of SCLE. After years of unsuccessful treatment with conventional medications for SCLE, she began therapy with efalizumab and experienced dramatic improvement in her cutaneous lesions after 6 weeks.