RESUMO
A healthy 5-year-old boy presented to the emergency department with an acute genital swelling. He had no relevant family history. His presentation and blood investigations were consistent with C1 esterase inhibitor deficiency, mostly likely arising de novo. A rare cause of acute genital swelling and its management are discussed.
Assuntos
Angioedemas Hereditários/diagnóstico , Proteína Inibidora do Complemento C1/análise , Ácido Tranexâmico/uso terapêutico , Angioedemas Hereditários/tratamento farmacológico , Pré-Escolar , Diagnóstico Diferencial , Edema/etiologia , Genitália/patologia , Humanos , MasculinoRESUMO
Ichthyosis prematurity syndrome (IPS; Mendelian Inheritance in Man 608649) is classified as a syndromic autosomal recessive ichthyosis. Here we describe two siblings with IPS and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. This mutation has arisen for the second time in an entirely distinct population from the Scandinavian population where it was first described.
Assuntos
Aniridia/genética , Proteínas de Transporte de Ácido Graxo/genética , Ictiose/genética , Doenças do Prematuro/genética , Rim/anormalidades , Mutação , Transtornos Psicomotores/genética , Pele/patologia , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
A retrospective study of 391 children with suspected tinea capitis was analyzed to examine the prevalence of dermatophyte species and to compare the efficacy of the scalp scraping method with that of the hairbrush method for diagnoses over a 6-year period. Trichophyton tonsurans tinea capitis is the most common pathogen. The hairbrush method of obtaining specimens for fungal culture was superior to scalp scrapings (p = 0.03) in making the diagnosis, and using two methods (p < 0.001) increased the yield of identifying a dermatophyte infection.
Assuntos
Tinha do Couro Cabeludo/diagnóstico , Tinha do Couro Cabeludo/epidemiologia , Diagnóstico Diferencial , Feminino , Humanos , Irlanda/epidemiologia , Masculino , Prevalência , Estudos Retrospectivos , Couro CabeludoRESUMO
Although artificial intelligence has been available for some time, it has garnered significant interest recently and has been popularized by major companies with its applications in image identification, speech recognition and problem solving. Artificial intelligence is now being increasingly studied for its potential uses in medicine. A sound understanding of the concepts of this emerging field is essential for the dermatologist as dermatology has abundant medical data and images that can be used to train artificial intelligence for patient care. There are already a number of artificial intelligence studies focusing on skin disorders such as skin cancer, psoriasis, atopic dermatitis and onychomycosis. This article aims to present a basic introduction to the concepts of artificial intelligence as well as present an overview of the current research into artificial intelligence in dermatology, examining both its current applications and its future potential.