RESUMO
Mastocytosis is an accumulation of clonal mast cells within tissues, commonly caused by mutations in the KIT proto-oncogene. This report describes the management of a neonate with diffuse cutaneous mastocytosis (DCM) caused by a rare activating KIT mutation, specifically internal tandem duplication of the Ala502Tyr503 pair on exon 9, and reviews current data regarding work-up of DCM in pediatric patients.
Assuntos
Regulação da Expressão Gênica no Desenvolvimento , Mastocitose/tratamento farmacológico , Mastocitose/genética , Proteínas Proto-Oncogênicas c-kit/genética , Cetirizina/uso terapêutico , Difenidramina/uso terapêutico , Quimioterapia Combinada , Humanos , Recém-Nascido , Masculino , Mastocitose/diagnóstico , Prognóstico , Proto-Oncogene Mas , Ranitidina/uso terapêutico , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Epidermolysis bullosa (EB) refers to a heterogeneous group of genetic disorders characterized by epithelial fragility. We provide guidelines for management of pediatric patients with EB in the emergency department based on a review of literature, as well as insights from our own experiences caring for patients with EB. The purpose of the guidelines proposed is prevention of avoidable iatrogenic trauma to the skin and mucosa of patients with EB who are presenting to the emergency department for a variety of reasons.
Assuntos
Epidermólise Bolhosa/epidemiologia , Doença Iatrogênica/prevenção & controle , Mucosa/lesões , Pele/lesões , Bandagens/ética , Bandagens/normas , Serviço Hospitalar de Emergência , Epidermólise Bolhosa/fisiopatologia , Epidermólise Bolhosa/terapia , Humanos , Mucosa/patologia , Administração dos Cuidados ao Paciente/ética , Administração dos Cuidados ao Paciente/métodos , Guias de Prática Clínica como Assunto , Pele/patologia , Ferimentos e Lesões/terapiaRESUMO
BACKGROUND: Sodium tetradecyl sulfate (STS) is Food and Drug Administration approved for treatment of varicose veins, but numerous other off-label applications have been reported. OBJECTIVE: To describe the clinical uses of STS, as well as efficacy and adverse effects. METHODS: Review of studies searchable on PubMed from 1938 to 2016 describing clinical uses of STS to determine efficacy and adverse effects associated with various applications. RESULTS: Sodium tetradecyl sulfate has shown efficacy in the treatment of varicose veins, telangiectasias, hemangioma, pyogenic granuloma, cherry angioma, Kaposi sarcoma, lymphangioma circumscriptum, digital mucous cyst, ganglion cyst, glomangioma, angiokeratoma of Fordyce, pseudocyst of the auricle, and verruca. Commonly reported side effects include pain, erythema, swelling, hyperpigmentation, telangiectatic matting, and ulceration. Serious side effects such as anaphylaxis, pulmonary embolism, stroke, and myocardial infarction have also been reported. Most sources were case reports and small prospective studies, as such the strength of data supporting many uses is limited by small sample sizes and lack of controls. CONCLUSION: Although not always the most effective method of treatment in off-label usage, use of STS has been frequently selected for a variety of applications for reasons of simplicity, low cost, lack of availability of technologically advanced equipment, and intricacies related to anatomic location.
Assuntos
Uso Off-Label , Soluções Esclerosantes/uso terapêutico , Tetradecilsulfato de Sódio/uso terapêutico , Tensoativos/uso terapêutico , Humanos , Soluções Esclerosantes/efeitos adversos , Tetradecilsulfato de Sódio/efeitos adversos , Tensoativos/efeitos adversos , Varizes/tratamento farmacológicoRESUMO
Numerous cutaneous manifestations have been associated with use of BRAF inhibitors, including two previously reported cases of granuloma annulare (GA) eruptions associated with vemurafenib therapy. Both of these patients were being treated for metastatic melanoma. In this report, we describe the case of a 71-year-old man who developed classic GA lesions while being treated with vemurafenib monotherapy for nonmelanoma cancer, specifically metastatic lung adenocarcinoma positive for BRAF V600 mutation.
J Drugs Dermatol. 2017;16(10):1050-1052.
.Assuntos
Adenocarcinoma/tratamento farmacológico , Antineoplásicos/efeitos adversos , Granuloma Anular/induzido quimicamente , Indóis/efeitos adversos , Neoplasias Pulmonares/tratamento farmacológico , Sulfonamidas/efeitos adversos , Adenocarcinoma/patologia , Adenocarcinoma de Pulmão , Idoso , Antineoplásicos/administração & dosagem , Humanos , Indóis/administração & dosagem , Neoplasias Pulmonares/patologia , Masculino , Mutação , Metástase Neoplásica , Proteínas Proto-Oncogênicas B-raf/genética , Sulfonamidas/administração & dosagem , VemurafenibRESUMO
Mercury poisoning is a rare event that can present with a variety of nonspecific systemic symptoms, making it difficult to diagnose. Dermatologic manifestations of mercury exposure may be variable and include pink disease (acrodynia), mercury exanthem, contact dermatitis, and cutaneous granulomas. We present the case of an 18-year-old woman with a palmoplantar eruption associated with tachycardia, hyperhidrosis, myalgia, paresthesia, and muscle fasciculations. Physical examination demonstrated poorly demarcated pink macules coalescing into patches on the left palm, right wrist, and soles. A punch biopsy was nonspecific, showing acanthosis and orthokeratosis with mild inflammation. Elevated urine and serum mercury levels confirmed a diagnosis of mercury poisoning. This case highlights the importance of consideration of mercury poisoning in the differential diagnosis for acral eruptions, especially in the presence of systemic symptoms and known risk factors.
Assuntos
Acrodinia , Exantema , Intoxicação por Mercúrio , Acrodinia/diagnóstico , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Intoxicação por Mercúrio/complicações , Intoxicação por Mercúrio/diagnóstico , PeleRESUMO
OBJECTIVES: To evaluate the utility of the corrected CSF white blood cell (WBC) count, cell index, CSF lactate, CSF glucose and a newly developed diagnostic model for the diagnosis of healthcare-associated ventriculitis or meningitis (HCAVM) in the setting of intracranial hemorrhage (ICH). PATIENTS AND METHODS: A case-control study of 111 adult patients with ICH with HCAVM (cases) or without HCAVM (controls) matched 1:2 by age, Glasgow Coma Scale (GCS), and Acute Physiology and Chronic Health Evaluation II (APACHE II) score enrolled in a large tertiary care center from 2003 to 2016. RESULTS: Subjects were appropriately matched by age, GCS, and APACHE II score (P > 0.2). Cases had significantly higher CSF WBC count (uncorrected and corrected), cell index, and CSF lactate, but lower CSF glucose levels than controls (P < 0.05). There were no differences between CSF protein, CSF neutrophilic pleocytosis, and serum C-reactive protein between cases and controls (P > 0.1). The diagnostic accuracy as analyzed by the area under the receiver operating characteristic curve (AUC of ROC) was found to be good for the cell index (0.825), fair for the corrected CSF WBC count (0.770), and poor for the diagnostic model and uncorrected CSF WBC count (0.652 and 0.653, respectively). CONCLUSION: The diagnosis of HCAVM in patients with ICH remains challenging and although no single parameter is sufficient for diagnosis the cell index proved to be an important indicator of infection in our study.
Assuntos
Ventriculite Cerebral/diagnóstico , Infecção Hospitalar/epidemiologia , Contagem de Eritrócitos , Hemorragias Intracranianas/complicações , Contagem de Leucócitos , Meningite/diagnóstico , APACHE , Adulto , Idoso , Algoritmos , Estudos de Casos e Controles , Ventriculite Cerebral/etiologia , Líquido Cefalorraquidiano/citologia , Infecção Hospitalar/microbiologia , Feminino , Escala de Coma de Glasgow , Humanos , Ácido Láctico/líquido cefalorraquidiano , Masculino , Meningite/etiologia , Pessoa de Meia-Idade , Reprodutibilidade dos TestesRESUMO
We present a follow-up of a patient who underwent right-sided subtotal mastectomy and placement of right-sided saline implant in 1968 for a phyllodes tumor and then in 2012 was diagnosed with a rare B-cell type lymphoma of the right breast. In 2015, she was diagnosed with diffuse large B-cell lymphoma involvement of the left breast and left leg and experienced subsequent self-regression of leg lesions without therapy.