RESUMO
Gap junctions are intercellular channels which are permeable to ions and small molecules up to about 1 kDa in size. They are prominent in the skin, but their precise function there is largely unknown. Mutations in skin-expressed gap junction genes disrupt epidermal growth and differentiation. A relatively minor epidermal connexin, connexin 26 (Cx26), is associated with a wide variety of phenotypes, each specifically associated with a particular amino acid residue. How the different mutations in GJB2 lead to such distinctive phenotypes is poorly understood. Analysis of new GJB2 mutations can shed new light on pathogenesis and the apparently vital role of Cx26 in maintaining epidermal integrity.
Assuntos
Conexinas/genética , Mutação de Sentido Incorreto , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Conexina 26 , Junções Comunicantes/genética , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/patologia , Humanos , Ceratodermia Palmar e Plantar/genética , Ceratodermia Palmar e Plantar/patologia , Masculino , FenótipoAssuntos
Promoção da Saúde/métodos , Roupa de Proteção/estatística & dados numéricos , Neoplasias Cutâneas/prevenção & controle , Queimadura Solar/prevenção & controle , Protetores Solares/uso terapêutico , Raios Ultravioleta/efeitos adversos , Adolescente , Criança , Pré-Escolar , Humanos , Instituições Acadêmicas , Inquéritos e Questionários , País de GalesRESUMO
We report a case of a 69-year-old woman with mycosis fungoides (MF), who presented with clinical and histological features of cutaneous lupus, and for 6 years was treated for this, until repeated biopsies and gene-rearrangement studies confirmed a diagnosis of MF. In addition, she developed thromboemboli and was found to have lupus anticoagulant antibodies. The possible biological relationship between antiphospholipid antibody syndrome and MF is considered. To our knowledge, this is the first reported case of MF masquerading as cutaneous lupus.
Assuntos
Síndrome Antifosfolipídica/complicações , Lúpus Eritematoso Cutâneo/diagnóstico , Micose Fungoide/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Biópsia , Diagnóstico Diferencial , Feminino , Rearranjo Gênico do Linfócito T , Humanos , Lúpus Eritematoso Cutâneo/complicações , Micose Fungoide/complicações , Micose Fungoide/radioterapia , Reação em Cadeia da Polimerase , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/radioterapia , Terapia UltravioletaRESUMO
We report a case of actinic folliculitis in a 29-year-old woman who presented with a 10-year history of a recurrent pustular eruption affecting her face, typically appearing 4-6 h after exposure to sunlight. Actinic follicuitis is a rare photodermatosis, which falls into the same spectrum as acne aestivalis and actinic superficial folliculitis.