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3.
Pediatr Dermatol ; 40(3): 534-536, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36524552

RESUMO

Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920:m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1). Next generation sequencing- based technology was key for the diagnosis and management of this patient.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Lactente , Humanos , Perda Auditiva/genética , Surdez/genética , Mitocôndrias/genética , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , DNA Mitocondrial/genética , Mutação
5.
Pediatr Dermatol ; 40(4): 660-663, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36451284

RESUMO

With the introduction of large-scale COVID-19 vaccination programs, a variety of cutaneous manifestations have been described. We present two girls (ages 12 and 5 years) who developed erythema nodosum (EN) 3 and 14 days after Pfizer-BioNTech COVID-19 vaccination, respectively. While EN after COVID-19 vaccination has been reported in adults, it is can also occur in children.


Assuntos
Vacinas contra COVID-19 , COVID-19 , Eritema Nodoso , Adulto , Criança , Feminino , Humanos , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Eritema Nodoso/diagnóstico , Eritema Nodoso/etiologia , Vacinação/efeitos adversos
6.
Dermatol Ther ; 35(11): e15844, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36124339

RESUMO

Apremilast is an oral small molecule approved for the treatment of psoriasis, psoriatic arthritis and oral ulcers associated with Behçet's disease. This research was conducted to describe the characteristics of patients who received treatment with apremilast for a skin disorder, either before, during, or after a biological treatment, with the aim of analyze the reasons that lead to start this drug in real clinical practice or suspend it for another. A total of 41 patients were enrolled: nine (22.0%) had received biological treatment prior to apremilast, seven (17.0%) both before and after apremilast and 25 (61.0%) after apremilast. One patient received concomitant treatment with adalimumab and apremilast. Most patients (85.4%) received apremilast as treatment for psoriasis. Reasons for starting apremilast were lack of efficacy with previous treatments (85.4%) and adverse effects or contraindication to previous treatments (14.6%), without statistically significant differences between patients who had received a previous biologic and those who had not. Drug survival was not influenced by previous biological treatment, but we found an increased risk of drug discontinuation in patients with chronic kidney disease (log-rank p = 0.028). The main reason of apremilast withdrawal was lack of adequate disease control (60.0%), most of whom required treatment with biologics. Therefore, despite the extensive development of new therapies for psoriasis and other dermatological conditions, apremilast is a widely used drug even in patients who are candidates for biologic treatment. Its initiation is more frequent due to poor disease control than because of other therapies contraindications.


Assuntos
Artrite Psoriásica , Produtos Biológicos , Psoríase , Humanos , Anti-Inflamatórios não Esteroides/efeitos adversos , Talidomida/efeitos adversos , Artrite Psoriásica/tratamento farmacológico , Psoríase/tratamento farmacológico , Psoríase/induzido quimicamente , Produtos Biológicos/efeitos adversos
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