Assuntos
Vesícula/diagnóstico , Vesícula/etiologia , Vacinas contra COVID-19/efeitos adversos , Penfigoide Bolhoso/diagnóstico , Penfigoide Bolhoso/etiologia , Vesícula/terapia , Vacinas contra COVID-19/administração & dosagem , Gerenciamento Clínico , Suscetibilidade a Doenças , Humanos , Penfigoide Bolhoso/terapia , Vacinação/efeitos adversos , Vacinação/métodosRESUMO
Cervicofacial actinomycosis is an uncommon, chronic, suppurative, and granulomatous bacterial infection. It is often of dental origin and tends to mimic other dental infections, granulomatous disorders, and cancers. The initial diagnostic workup, predicated upon imaging and tissue biopsies, is frequently nonspecific. A definitive diagnosis is usually rendered only after surgical excision and histologic examination of the cervicofacial mass. We propose a classification of three stages: localized infection without sinus involvement, localized infection with sinus involvement, and disseminated infection, to facilitate recognition, diagnosis, and early aggressive treatment. Untreated infection may be life-threatening. Therapy may require long-term antibiotics; however, many cases may also necessitate complete surgical excision.
Assuntos
Actinomicose Cervicofacial , Actinomicose , Actinomicose/diagnóstico , Actinomicose/tratamento farmacológico , Actinomicose Cervicofacial/diagnóstico , Actinomicose Cervicofacial/tratamento farmacológico , Antibacterianos/uso terapêutico , Biópsia , HumanosRESUMO
Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin-specific isoform of the gene SMARCAD1 have been found in both syndromes. This report proposes to unify these two previously distinct ED, into one syndrome. We offer a new acronym: SMARCAD syndrome (SMARCAD1-associated congenital facial Milia, Adermatoglyphia, Reduced sweating, Contractures, Acral Bullae, and Dystrophy of nails). Sanger sequencing was performed on genomic DNA from a patient with Basan syndrome using primers designed to flank SMARCAD1. Sanger sequencing revealed a novel variant, NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. This variant and the other five previously reported variants in Basan syndrome and ADG are all within the same donor splice site. We conclude that Basan syndrome and ADG are on a phenotypic spectrum of a monogenic syndrome which is better described by the acronym SMARCAD syndrome.
Assuntos
DNA Helicases/genética , Displasia Ectodérmica/complicações , Displasia Ectodérmica/genética , Mutação/genética , Unhas Malformadas/genética , Dermatopatias Genéticas/complicações , Dermatopatias Genéticas/genética , Pele/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Especificidade de Órgãos/genética , Isoformas de Proteínas/genéticaRESUMO
Erythema ab igne (EAI) is an asymptomatic dermatosis caused by prolonged exposure to localized heat. Affected areas have net-like hyperpigmentation that may resemble more serious conditions such as livedo racemosa or vasculitis. We report three cases of EAI in pediatric sickle cell disease (SCD) patients who were initially suspected of having a more severe, life-threatening disorder before Dermatology was consulted. Clinicians caring for pediatric SCD patients who regularly use heating pads/devices for pain relief should consider EAI in the differential diagnosis of large areas of net-like hyperpigmentation. This paper aims to increase recognition of EAI and patient education on safe practices while using heating pads.
Assuntos
Anemia Falciforme/complicações , Eritema/etiologia , Dermatopatias/etiologia , Adolescente , Adulto , Anemia Falciforme/patologia , Feminino , Temperatura Alta , Humanos , Hiperpigmentação , Adulto JovemRESUMO
Parvovirus B19 (PVB19) infection has a varied spectrum of clinical manifestations, ranging from subclinical infection to skin and joint symptoms to hematologic effects with potential fatality. The most common manifestation of PVB19 infection in children is erythema infectiosum (EI). Also known as fifth disease or slapped cheek syndrome, EI presents as an erythematous exanthem limited to the malar eminences that follows a mild prodromal illness. In healthy children, infection is selflimiting and has an excellent prognosis; however, in high-risk pediatric groups (eg, immunocompromised patients, children with hemolytic anemia or prenatal infection), clinical manifestations are hematologic in nature and typically are more severe. Diagnosis often is made clinically. Serologic testing can be confirmatory. Treatment is aimed at symptomatic relief, and a vaccine currently is under investigation.