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INTRODUCTION: Hypohidrotic ectodermal dysplasia (HED) is a genetic condition typified by alterations in skin structures including sweat glands, hair, nails, and teeth. Hair findings in HED have been poorly characterized in larger series. OBJECTIVE: To characterize scalp and hair findings of patients with HED clinically and with trichoscopy and light microscopy. METHODS: A cross-sectional study in 21 pediatric HED patients was performed using available clinical and scalp dermatoscopic images, as well as pulled-hair samples for clinical evaluation, trichoscopic, and light microscopic analyses. RESULTS: Seventeen out of 21 patients (81%) were men. Twenty patients had straight hair. Sixteen patients had decreased hair density, 6 of whom had hair loss mainly in the temporal and occipital regions. Fourteen patients had hair whorls. On trichoscopy, we observed: single-hair follicular units (n = 19, 90%), scalp hyperpigmentation (n = 13, 62%), variable diameter of the hair shafts (n = 12, 57%), perifollicular scales (n = 8, 38%), scalp erythema (n = 8, 38%), and short curly pigtail hairs (n = 6, 29%). On light microscopy, findings included: hair shafts with irregular diameter (n = 7, 33%), heterogeneous hair color (n = 6, 29%), trichoptilosis (n = 2, 10%), and pili torti (n = 1, 5%). CONCLUSIONS: In this series, hair findings in HED were similar to those described in previous studies. However, we describe two new clinical and two trichoscopic findings: decreased hair density mainly in the temporal and occipital regions, oblique upwards occipital hair follicles orientation, angled hairs, and short curly pigtail hairs. These heterogeneous findings may reflect the multiple factors and signaling pathways that can be affected in these syndromes.
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Displasia Ectodérmica Anidrótica Tipo 1 , Displasia Ectodérmica , Doenças do Cabelo , Criança , Estudos Transversais , Displasia Ectodérmica/diagnóstico , Feminino , Cabelo , Doenças do Cabelo/diagnóstico , Humanos , MasculinoRESUMO
BACKGROUND AND OBJECTIVES: Skin diseases are a common reason for emergency department (ED) consultations; however, few studies have focused on pediatric patients. Diagnostic consistency between ED physicians and dermatologists varies from 43% to 58%, meaning many patients seeking emergency care may receive incorrect diagnoses and treatments. We aimed to determine the diagnostic concordance between ED physicians and pediatric dermatologists. METHODS: We conducted a prospective study including all pediatric patients (<18 years) who were seen for a skin condition at the ED from December 1, 2017, to June 1, 2018, and consented to participate. We classified diagnoses according to their etiology. Patients were diagnosed by ED trainees and attending physicians, followed by blinded pediatric dermatology trainees and attending physicians. We evaluated concordance using Fleiss's kappa coefficient (κ) with a 95% confidence interval. We further stratified the data by level of training. RESULTS: We included 185 patients. Inflammatory conditions were the most common reason for consultation, followed by infections; 10 patients required hospitalization. Concordance between diagnoses given at the ED and at the dermatology clinic was moderate (κ 0.472, 95% CI: 0.389-0.455) with 62.7% agreement. Concordance between different diagnostic categories was lowest for autoimmune disorders and drug reactions (κ 0.392 with 95% CI: 0.248-0.536 and κ 0.258 with 95% CI: 0.114-0.402). CONCLUSIONS: Diagnostic concordance between ED physicians and dermatologists was moderate and differed according to training level and diagnoses. Dermatological education for ED providers, specifically focusing on autoimmune disorders and drug reactions, may improve diagnostic accuracy and patient care.
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Dermatologistas , Médicos , Criança , Serviço Hospitalar de Emergência , Humanos , México , Estudos Prospectivos , Centros de Atenção TerciáriaRESUMO
BACKGROUND: There are no pathognomonic histopathological features to distinguish acute graft-vs-host disease (aGVHD) from skin drug reactions (SDRs) in pediatric patients with multiple drug regimens that have received blood transfusions and/or transplants. We aimed to determine if the addition of apoptosis markers is helpful to distinguish aGVHD from SDRs in these patients. METHODS: Skin biopsy specimens from patients with a clinical diagnosis of aGVHD or SDRs were evaluated for the presence of apoptotic bodies, satellitosis, interface damage, vasculitis, and inflammatory infiltrate on H&E stain. Information was completed with apoptotic markers (transferase-mediated dUTP nick end-labeling [TUNEL], bcl-2, and caspase-3). RESULTS: The skin biopsy specimens of 32 patients with aGVHD and 11 with SDRs were included for study. Only the number of apoptotic keratinocytes per 10 high-power fields (hpf) showed a significant difference between both groups (P = 0.02); the presence of ≥4 apoptotic keratinocytes per 10 hpf was identified as the optimal cut-off point to discriminate aGVHD from SDRs. No SDRs cases had follicular apoptotic cells. TUNEL, bcl-2, and caspase-3 determination showed no difference between both groups. CONCLUSIONS: The presence of ≥4 apoptotic keratinocytes per 10 hpf (in aGVHD) and the absence of follicular apoptotic cells (in SDRs) might be a useful marker to distinguish between them.
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Apoptose/imunologia , Hipersensibilidade a Drogas/patologia , Doença Enxerto-Hospedeiro/patologia , Pele/patologia , Doença Aguda , Adolescente , Estudos de Casos e Controles , Caspase 3/metabolismo , Criança , Pré-Escolar , Hipersensibilidade a Drogas/imunologia , Diagnóstico Precoce , Feminino , Doença Enxerto-Hospedeiro/imunologia , Humanos , Lactente , Queratinócitos/patologia , Masculino , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Estudos RetrospectivosRESUMO
BACKGROUND: One of the most important complications of Kawasaki disease is the development of giant coronary aneurysms. Risk factors for their development are still not clear. METHODS: A retrospective analysis was conducted at the National Institute of Paediatrics in Mexico City, Mexico. It included all patients with a diagnosis of acute Kawasaki disease between August, 1995 and August, 2015. Clinical and laboratory findings, as well as echocardiographic measurements, were recorded. Patients with giant coronary aneurysms (z-score⩾10) were compared with the rest of the patients. A value of p<0.05 was considered statistically significant. Odds ratios and their 95% confidence intervals were calculated to define risk factors. RESULTS: During the study period, 416 patients were diagnosed with Kawasaki disease. Of them, 34 developed giant coronary aneurysms during the acute stage of the disease. In the multivariate analysis, patients younger than 1 year, those with a higher duration of illness at the time of diagnosis, and those who received additional intravenous immunoglobulin showed a significantly higher frequency of giant coronary aneurysms. CONCLUSIONS: One of the main factors associated with the development of giant coronary aneurysms was the delay in the diagnosis of Kawasaki disease. This finding highlights the importance of maintaining a high suspicion of the disease, which would enable an early diagnosis and prompt treatment and decrease the risk for developing giant coronary aneurysms.