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Eczema can manifest in a linear arrangement, as can other inflammatory conditions. We report a case of a teenager who, during treatment with oral isotretinoin for acne, developed a generalized eczematous dermatitis together with a superimposed linear eczema on her posterior lower limb. We hypothesize that a postzygotic mutation caused an increased sensitivity to the impact of oral isotretinoin on the epidermal skin barrier structure and lipid composition within a specific skin segment.
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BACKGROUND: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV). OBJECTIVE: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children. METHODS: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected. RESULTS: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV. CONCLUSIONS: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition.
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Nariz , Humanos , Pré-Escolar , Lactente , Estudos Prospectivos , Masculino , Feminino , Criança , Nariz/irrigação sanguínea , Veias/anormalidades , Veias/anatomia & histologia , Recém-Nascido , Pigmentação da PeleRESUMO
We have observed a distinct phenomenon of transient oral lingual leukoplakia in infancy and report 22 healthy infants with gray-white plaques on the dorsal tongue with sparing of the tip from four medical centers in three countries. The onset of the eruption ranged from 1 week to 7 months of life and resolved in 19 patients (86%, with 3 patients lost to follow-up). None of the eight patients examined at 1 year of age had residual findings. We believe this is a common entity that can be distinguished from oral candidiasis on clinical and/or laboratory examination and name this entity "transient infantile lingual leukoplakia."
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Leucoplasia Oral , Humanos , Masculino , Lactente , Feminino , Leucoplasia Oral/diagnóstico , Leucoplasia Oral/patologia , Recém-Nascido , Doenças da Língua/diagnóstico , Doenças da Língua/patologia , Língua/patologia , Diagnóstico DiferencialRESUMO
A healthy 2-year-old girl presented with multiple asymptomatic subcutaneous nodules on both legs. Histologically demonstrated calcium deposition within the dermis and subcutaneous tissue consistent with calcinosis cutis. Laboratory abnormalities, underlying genetic conditions, and potential triggering factors were ruled out. The lesions resolved over an 18-month period without treatment, emphasizing the importance of the wait-and-see approach in idiopathic cases of calcinosis cutis.
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Calcinose Cutânea , Calcinose , Dermatopatias , Neoplasias Cutâneas , Feminino , Humanos , Pré-Escolar , Calcinose/diagnóstico , Calcinose/patologia , Gordura Subcutânea/patologia , Dermatopatias/diagnóstico , Dermatopatias/patologiaRESUMO
Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who presented with confluent hyperkeratotic plaques that drained purulent material with subsequent scarring. A c.3641C > G (p. Pro1214Arg) variant that has been previously been reported was found in NLRP1 and was not present in either parent. The term NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) is proposed to encompass all reported cases, which have received different nomenclature so far.
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Proteínas Adaptadoras de Transdução de Sinal , Doenças Hereditárias Autoinflamatórias , Feminino , Humanos , Criança , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas Reguladoras de Apoptose/metabolismo , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/complicações , Proteínas NLRRESUMO
BACKGROUND: Baricitinib, an oral selective Janus kinase (JAK)1/JAK2 inhibitor, is approved in many countries for moderate-to-severe atopic dermatitis (AD) in adults who are candidates for systemic therapy. OBJECTIVES: To evaluate the efficacy and safety of three doses of baricitinib in combination with low-to-moderate potency topical corticosteroids in paediatric patients with moderate-to-severe AD. METHODS: Patients (aged 2 to < 18â years) were randomized (1 : 1 : 1 : 1) to once-daily baricitinib low dose (1â mg equivalent), medium dose (2â mg equivalent), high dose (4â mg equivalent) or placebo for 16 weeks. The primary endpoint was the proportion of patients achieving a validated Investigator Global Assessment® (vIGA-AD) of 0/1 with a ≥ 2-point improvement at week 16. Key secondary endpoints included the proportions of patients achieving ≥ 75% and ≥ 90% improvement in the Eczema Area and Severity Index (EASI-75 and EASI-90, respectively), ≥ 75% improvement in the SCORing Atopic Dermatitis (SCORAD 75), mean change from baseline in EASI score and proportion of patients achieving a 4-point improvement in the Itch Numeric Rating scale (NRS) for patients aged ≥ 10â years. Primary and key secondary efficacy analyses were conducted on the intent-to-treat population and adjusted for multiplicity. Safety analyses included all randomized patients who received ≥ 1 dose of study treatment. RESULTS: A total of 483 patients were randomized (mean age 12â years). The baricitinib 4â mg equivalent achieved a statistically significant (P < 0.05) improvement vs. placebo on all 16-week endpoints (vIGA 0/1 with ≥ 2-point improvement, EASI-75, EASI-90, SCORAD 75, mean change in EASI score and Itch NRS 4-point improvement for patients aged ≥ 10â years). Improvement (P < 0.05, non-multiplicity adjusted) was also observed for baricitinib 4â mg equivalent vs. placebo in the ability to fall asleep and in reduction of topical corticosteroid use. Few patients discontinued due to adverse events (1.6% for placebo and 0.6% for those treated with baricitinib). There were no deaths, venous thromboembolic events, arterial thrombotic events, major adverse cardiovascular events, malignancies, gastrointestinal perforations or opportunistic infections seen. CONCLUSIONS: The results indicate that baricitinib offers a potential therapeutic option with a favourable benefit-risk profile for paediatric patients with moderate-to-severe AD who are candidates for systemic therapies.
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Dermatite Atópica , Fármacos Dermatológicos , Inibidores de Janus Quinases , Adulto , Humanos , Criança , Dermatite Atópica/diagnóstico , Dermatite Atópica/tratamento farmacológico , Resultado do Tratamento , Índice de Gravidade de Doença , Prurido/tratamento farmacológico , Fármacos Dermatológicos/uso terapêutico , Corticosteroides/uso terapêutico , Método Duplo-Cego , Inibidores de Janus Quinases/efeitos adversosRESUMO
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.
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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 , MutaçãoRESUMO
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.
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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 adversosRESUMO
A previously healthy breastfed 7-month-old infant presented with several papulovesicular lesions, a hyperemic pharynx and a petechial enanthema. His mother had confirmed monkeypox infection with similar skin lesions on the chest wall. Skin-to-skin contact is the most likely mode of transmission of monkeypox. Precautions to limit skin contact during activities such as breastfeeding are recommended if suspected skin lesions are present.
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Exantema , Mpox , Feminino , Lactente , Humanos , Aleitamento Materno , Mães , PeleRESUMO
BACKGROUND: Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11·4-Mb interval on chromosome Xq25-q27.1. However, the genetic mechanism of BDCS remains an open question. OBJECTIVES: To investigate the genetic aetiology and molecular mechanisms underlying BDCS. METHODS: We ascertained multiple individuals from eight unrelated families affected with BDCS (F1-F8). Whole-exome (F1 and F2) and genome sequencing (F3) were performed to identify putative disease-causing variants within the linkage region. Array comparative genomic hybridization and quantitative polymerase chain reaction (PCR) were used to explore copy number variations, followed by long-range gap PCR and Sanger sequencing to amplify the duplication junctions and to define the head-tail junctions. Hi-C was performed on dermal fibroblasts from two affected individuals with BDCS and one control. Public datasets and tools were used to identify regulatory elements and transcription factor binding sites within the minimal duplicated region. Immunofluorescence was performed in hair follicles, BCCs and trichoepitheliomas from patients with BDCS and sporadic BCCs. The ACTRT1 variant c.547dup (p.Met183Asnfs*17), previously proposed to cause BDCS, was evaluated with t allele frequency calculator. RESULTS: In eight families with BDCS, we identified overlapping 18-135-kb duplications (six inherited and two de novo) at Xq26.1, flanked by ARHGAP36 and IGSF1. Hi-C showed that the duplications did not affect the topologically associated domain, but may alter the interactions between flanking genes and putative enhancers located in the minimal duplicated region. We detected ARHGAP36 expression near the control hair follicular stem cell compartment, and found increased ARHGAP36 levels in hair follicles in telogen, in BCCs and in trichoepitheliomas from patients with BDCS. ARHGAP36 was also detected in sporadic BCCs from individuals without BDCS. Our modelling showed the predicted maximum tolerated minor allele frequency of ACTRT1 variants in control populations to be orders of magnitude higher than expected for a high-penetrant ultra-rare disorder, suggesting loss of function of ACTRT1 variants to be an unlikely cause for BDCS. CONCLUSIONS: Noncoding Xq26.1 duplications cause BDCS. The BDCS duplications most likely lead to dysregulation of ARHGAP36. ARHGAP36 is a potential therapeutic target for both inherited and sporadic BCCs. What is already known about this topic? Bazex-Dupré-Christol syndrome (BDCS) is a rare X-linked basal cell carcinoma susceptibility syndrome linked to an 11·4-Mb interval on chromosome Xq25-q27.1. Loss-of-function variants in ACTRT1 and its regulatory elements were suggested to cause BDCS. What does this study add? BDCS is caused by small tandem noncoding intergenic duplications at chromosome Xq26.1. The Xq26.1 BDCS duplications likely dysregulate ARHGAP36, the flanking centromeric gene. ACTRT1 loss-of-function variants are unlikely to cause BDCS. What is the translational message? This study provides the basis for accurate genetic testing for BDCS, which will aid precise diagnosis and appropriate surveillance and clinical management. ARHGAP36 may be a novel therapeutic target for all forms of sporadic basal cell carcinomas.
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Carcinoma Basocelular , Hipotricose , Humanos , Carcinoma Basocelular/patologia , Hibridização Genômica Comparativa , Variações do Número de Cópias de DNA/genética , Células Germinativas/patologia , Hipotricose/genética , Hipotricose/patologia , Proteínas dos MicrofilamentosRESUMO
BACKGROUND: We describe two unrelated patients who display similar clinical features including telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. METHODS: We performed trio whole exome sequencing and functional analysis using in vitro kinase assays with recombinant proteins. RESULTS: We identified two different de novo mutations in protein kinase D1 (PRKD1, NM_002742.2): c.1774G>C, p.(Gly592Arg) and c.1808G>A, p.(Arg603His), one in each patient. PRKD1 (PKD1, HGNC:9407) encodes a kinase that is a member of the protein kinase D (PKD) family of serine/threonine protein kinases involved in diverse cellular processes such as cell differentiation and proliferation and cell migration as well as vesicle transport and angiogenesis. Functional analysis using in vitro kinase assays with recombinant proteins showed that the mutation c.1808G>A, p.(Arg603His) represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The mutation c.1774G>C, p.(Gly592Arg) in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation. CONCLUSION: The present cases represent a syndrome, which associates symptoms from several different organ systems: skin, teeth, bones and heart, caused by heterozygous de novo mutations in PRKD1 and expands the clinical spectrum of PRKD1 mutations, which have hitherto been linked to syndromic congenital heart disease and limb abnormalities.
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Braquidactilia/genética , Displasia Ectodérmica/genética , Mutação , Proteína Quinase C/genética , Telangiectasia/genética , Adolescente , Braquidactilia/enzimologia , Displasia Ectodérmica/enzimologia , Feminino , Células HEK293 , Humanos , Masculino , Síndrome , Telangiectasia/enzimologia , Sequenciamento do Exoma , Adulto JovemRESUMO
Livedo reticularis-like eruptions have been described in different viral infections. In patients with COVID-19, livedo reticularis-like rashes are usually mild, typically present in a symmetric distribution and mostly involve the lower limbs. A case of livedo reticularis located exclusively on the breasts of a girl with mild systemic symptoms of COVID-19 is presented. Coagulation studies were normal and findings disappeared within 1 week.
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COVID-19 , Exantema , Livedo Reticular , Adolescente , COVID-19/complicações , Exantema/diagnóstico , Exantema/etiologia , Feminino , Humanos , Livedo Reticular/diagnósticoRESUMO
BACKGROUND: The COVID-19 pandemic has brought innumerable reports of chilblains. The relation between pernio-like acral eruptions and COVID-19 has not been fully elucidated because most reported cases have occurred in patients with negative microbiological tests for SARS-CoV-2. METHODS: A retrospective study of 49 cases of chilblains seen during the first year of the pandemic in a children's hospital in Madrid, Spain. The incidence of these skin lesions was correlated with the number of COVID-19 admissions and environmental temperatures. Patients were separated into two groups depending on the day of onset (strict lockdown period vs. outside the lockdown period). RESULTS: Most chilblains cases presented during the first and third waves of the pandemic, paralleling the number of COVID-19 admissions. The first wave coincided with a strict lockdown, and the third wave coincided with the lowest ambient seasonal temperatures of the year. Systemic symptoms preceding chilblains were more frequent in the first wave (45.8% vs. 8.0%, p = .002), as was the co-occurrence with erythema multiforme-like lesions (16.7% vs. 0%, p = .033). Laboratory test and skin biopsies were performed more frequently in the first wave (75.0% vs. 12.0%, p < .001; and 25.0% vs. 0%, p = .007; respectively). Five patients developed recurrent cutaneous symptoms. CONCLUSIONS: An increased incidence of chilblains coincided not only with the two major waves of the pandemic, but also with the strict lockdown period in the first wave and low seasonal temperatures during the third wave. Both increased sedentary behaviors and cold environmental temperatures may have played an additive role in the development of COVID-19-related chilblains.
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COVID-19 , Pérnio , Dermatopatias , COVID-19/epidemiologia , Pérnio/diagnóstico , Pérnio/epidemiologia , Pérnio/etiologia , Criança , Controle de Doenças Transmissíveis , Humanos , Incidência , Pandemias , Estudos Retrospectivos , SARS-CoV-2 , Dermatopatias/diagnósticoRESUMO
BACKGROUND: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae. OBJECTIVE: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH. METHODS: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry. Twenty-seven pediatric dermatologists were invited to participate in a survey with 50 clinical vignettes randomly selected within the registry. Each vignette contained a picture of an infantile hemangioma with a clinical description. Raters chose therapy among observation, topical timolol, or oral propranolol. The same survey reordered was completed 1 month later to assess intra-rater agreement. Vignettes were stratified into hemangioma risk categories following the Spanish consensus on IH. The agreement was measured using kappa statistics appropriate for the type of data (Gwet's AC1 coefficient and Gwet's paired t test). RESULTS: Twenty-four dermatologists completed the survey. Vignettes represented 7.8% of the Spanish hemangioma registry. The inter-rater agreement on the treatment decision was fair (AC1 = 0.39, 95% confidence interval [CI]: 0.30-0.47). When stratified by risk category, good agreement was reached for high-risk hemangiomas (AC1 = 0.77, 95% CI: 0.51-1.00), whereas for intermediate- and low-risk categories, the agreement was only fair (AC1 0.31, 95% CI: 0.16-0.46 and AC1 = 0.38, 95% CI: 0.27-0.48, respectively). Propranolol was the main option for high-risk hemangiomas (86.4%), timolol for intermediate-risk (36.8%), and observation for low-risk ones (55.9%). The intra-rater agreement was good. The inter-rater agreement between pediatric dermatologists on the treatment of IH is only fair. Variability was most significant with intermediate- and low-risk hemangiomas.
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Hemangioma Capilar , Hemangioma , Criança , Estudos Transversais , Dermatologistas , Hemangioma/tratamento farmacológico , Humanos , Variações Dependentes do Observador , Pediatria , Propranolol/uso terapêutico , Espanha , Timolol/uso terapêuticoRESUMO
Atopic dermatitis (AD) is a common skin disease during infancy, which imposes a considerable burden on patients, their families, and the society, requiring effective treatment options that result in rapid and sustained symptom relief. Additionally, early treatment may prevent the development of atopic comorbidities by restoring the skin barrier. Currently, topical standard-of-care for AD in infants includes emollients and topical corticosteroids (TCS) to treat and reduce the risk of flares. However, only few have been approved for infants and long-term maintenance therapy with TCS is not indicated due to potential local and systemic side effects, including skin atrophy. Accordingly, the recently updated European guidelines for treatment of AD recommend topical calcineurin inhibitors (TCIs) for long-term use, treatment of sensitive skin areas, and for use in the pediatric population. Evidence on the use of TCIs for infants has almost been exclusively collected for pimecrolimus, with >4000 infants evaluated in clinical trials, consistently confirming that pimecrolimus is a safe and effective treatment for infants with AD. Nevertheless, its use is still restricted in most countries to children above the age of 2 years due to initial and mostly theoretical safety concerns. Based on a careful review of the available evidence of clinical trials, post-marketing surveillance, and epidemiological studies, an Expert Panel of European dermatologists and pediatric allergologists concluded that these safety concerns are no longer valid. Therefore, pimecrolimus offers a safe and effective alternative to TCS in infants aged 3 months and above, and labeling restrictions in this age group are no longer justified.
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Dermatite Atópica , Inibidores de Calcineurina/efeitos adversos , Criança , Consenso , Dermatite Atópica/tratamento farmacológico , Humanos , Lactente , Recém-Nascido , Tacrolimo/efeitos adversos , Tacrolimo/análogos & derivados , Resultado do TratamentoRESUMO
BACKGROUND: Cutaneous manifestations in hospitalized children with SARS-CoV-2 have not been studied systematically. OBJECTIVE: To describe the mucocutaneous involvement in pediatric patients with COVID-19 admitted to a pediatric institution in Madrid (Spain), located in a zone reporting among the highest prevalence of COVID-19 in Europe. METHODS: A descriptive, analytical study was conducted on a series of 50 children hospitalized with COVID-19 between March 1, 2020, and November 30, 2020. RESULTS: Twenty-one patients presented with mucocutaneous symptoms: 18 patients with macular and/or papular exanthem, 17 with conjunctival hyperemia, and 9 with red cracked lips or strawberry tongue. Eighteen patients fulfilled criteria for multisystem inflammatory syndrome in children. Patients with mucocutaneous involvement tended to be older and presented to the emergency department with poor general status and extreme tachycardia, higher C-reactive protein and D-dimer levels, and lower lymphocyte counts than patients without skin signs. Mucocutaneous manifestations pose a higher risk of admission to the pediatric intensive care unit (odds ratio, 10.24; 95% confidence interval, 2.23-46.88; P = .003). CONCLUSIONS: Children hospitalized with COVID-19 frequently had mucocutaneous involvement, with most symptoms fulfilling criteria for multisystem inflammatory syndrome in children. Patients with an exanthem or conjunctival hyperemia at admission have a higher probability of pediatric intensive care admission than patients without mucocutaneous symptoms.
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COVID-19/complicações , Dermatopatias/etiologia , COVID-19/diagnóstico , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Lactente , Masculino , Mucosa , Estudos Retrospectivos , Dermatopatias/diagnóstico , Síndrome de Resposta Inflamatória Sistêmica/diagnósticoRESUMO
BACKGROUND: Impetigo is a contagious bacterial infection that affects the superficial skin layers. Increasing worldwide antimicrobial resistance (AMR) to existing topical agents commonly prescribed to treat impetigo is central to treatment failure. The Worldwide Health Organization developed a global action plan on AMR, but omitted information about AMR stewardship programs for topical antibiotics. OBJECTIVES: The review aims to provide information to clinicians and stakeholders regarding AMR and antimicrobial stewardship on topical antimicrobial drugs for impetigo treatment. METHODS: The literature searches reviewed the status of AMR to current topical antibiotics in impetigo, current therapeutic behavior, and concordance with antimicrobial stewardship principles. Two international panels convened to discuss the output of the searches, and the results of the panel discussions were used in the development of the manuscript. RESULTS: The literature search included clinical trials, research studies, clinical guidelines, consensus papers, and reviews (if they provided original data), published between January 2008 and May 2019. The articles were selected based on clinical relevancy of impetigo management, clinical efficacy, and safety of the treatment and antimicrobial resistance. The searches resulted in one-hundred and ninety-eight articles. After applying the eligibility criteria, nineteen articles met inclusion criteria and were considered in the present review. CONCLUSIONS: While published antimicrobial stewardship guidelines have focused on systemic antibiotics, few studies have attempted to evaluate topical antibiotic prescribing practices for impetigo treatment. Many of the topical impetigo treatments currently in use have developed resistance. The appropriate use of topical ozenoxacin can help eradicate impetigo while minimizing AMR.J Drugs Dermatol. 20(4):366-372. doi:10.36849/JDD.5795.
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Antibacterianos/farmacologia , Gestão de Antimicrobianos/normas , Impetigo/tratamento farmacológico , Staphylococcus aureus/efeitos dos fármacos , Administração Cutânea , Aminopiridinas/farmacologia , Aminopiridinas/normas , Aminopiridinas/uso terapêutico , Antibacterianos/normas , Antibacterianos/uso terapêutico , Prescrições de Medicamentos/normas , Farmacorresistência Bacteriana , Humanos , Testes de Sensibilidade Microbiana , Guias de Prática Clínica como Assunto , Quinolonas/farmacologia , Quinolonas/normas , Quinolonas/uso terapêutico , Staphylococcus aureus/isolamento & purificação , Resultado do TratamentoRESUMO
Intrathoracic infantile hemangiomas (IHs) are extremely rare. They may be located in the pericardium, trachea, bronchia, diaphragm, mediastinum, or the lungs and may be associated with cutaneous IHs. We present a newborn with multiple pulmonary IHs in the absence of skin lesions that showed a dramatic response to oral propranolol.
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Hemangioma Capilar , Hemangioma , Neoplasias Cutâneas , Administração Oral , Antagonistas Adrenérgicos beta/uso terapêutico , Hemangioma/tratamento farmacológico , Hemangioma Capilar/diagnóstico , Hemangioma Capilar/tratamento farmacológico , Humanos , Lactente , Recém-Nascido , Pulmão , Propranolol/uso terapêutico , Neoplasias Cutâneas/tratamento farmacológico , Resultado do TratamentoRESUMO
Sorafenib is a multikinase inhibitor increasingly used for the treatment of several solid tumors. Different types of keratotic lesions, such as squamous cell carcinoma, actinic keratosis, or infundibular cyst, have been reported in association with this therapy. We present a 15-year-old male diagnosed with desmoid fibromatosis who developed multiple penile and scrotal infundibular cysts while receiving treatment with sorafenib.
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Carcinoma de Células Escamosas , Neoplasias Cutâneas , Adolescente , Humanos , Masculino , Niacinamida/efeitos adversos , Compostos de Fenilureia , SorafenibeRESUMO
A healthy 10-year-old boy presented with plaque-like cutaneous mucinosis (PCM) on his back. Cutaneous biopsy was followed by progressive resolution of the skin lesion. Pediatric PCM could differ clinically from the adult form. However, more cases are necessary to draw conclusions.