Dermatologia pediátrica : perfil nosológico e de consultorias em um complexo hospitalar no sul do Brasil

Objective: The study aimed to analyze the profile of dermatoses and Dermatology consultations in a pediatric hospital in southern Brazil. Method: This descriptive and quantitative study was conducted from the analysis of admissions, hospital referrals, and dermatology consultations of pediatric inpatients from August 2018 to January 2020. The researchers performed an investigation in three phases: analysis of pediatric hospitalizations with dermatological diagnosis (phase 1), analysis of dermatology consultations referrals (phase 2), and analysis of dermatology consultations (phase 3). Results: Throughout the 18-month period analyzed, the authors identified 12,656 pediatric hospitalizations, 266 hospital referrals, and 167 dermatology consultations. Hospital dermatoses evidenced a prevalence of 6.8%, with “cellulitis” (L03) and “abscess” (L02) as the main conditions. In dermatology consultations, “dermatitis and eczema” and “skin infections” were the main groups of cutaneous disorders, whereas “atopic dermatitis” (L20) and “drug eruptions” (L27) were the main skin diseases. Corticoids, moisturizers, and antibiotics were the most recommended therapies by dermatologists. Conclusion: From this study, authors evidenced the prominence of inflammatory and infectious cutaneous conditions in children and adolescent populations. Moreover, vulnerabilities and shortcomings of the dermatology consultations process were also found, indicating the need for evaluations and enhancements, mainly regarding clinical data of referrals.Objetivo: O estudo teve como objetivo analisar o perfil das dermatoses e consultas de Dermatologia num hospital pediátrico do sul do Brasil. Método: Este estudo descritivo e quantitativo foi realizado a partir da análise das internações, encaminhamentos hospitalares e consultas de Dermatologia de pacientes pediátricos internados no período de agosto de 2018 a janeiro de 2020. Os pesquisadores realizaram uma investigação em três fases: análise de dermatoses pediátricas hospitalares (fase 1); análise de encaminhamentos de consultas de Dermatologia (fase 2) e análise de consultas de Dermatologia (fase 3). Resultados: Ao longo dos 18 meses analisados, os autores identificaram 12.656 internações pediátricas, 266 encaminhamentos hospitalares e 167 consultas de Dermatologia. As dermatoses hospitalares evidenciaram prevalência de 6.8%, sendo ’Celulite’ (L03) e ’Abscesso’ (L02) as principais condições. Nas consultas de Dermatologia, ’Dermatite e eczema’ e ’Infeções cutâneas’ foram os principais grupos de distúrbios cutâneos, enquanto ’Dermatite atópica’ (L20) e ’Erupções medicamentosas’ (L27) foram as principais doenças de pele. Corticoides, hidratantes e antibióticos foram as terapias mais recomendadas pelos dermatologistas. Conclusão: A partir deste estudo, os autores evidenciaram a proeminência de quadros inflamatórios e infeciosos cutâneos em populações de crianças e adolescentes. Além disso, também foram encontradas vulnerabilidades e deficiências no processo de consultas de Dermatologia, indicando a necessidade de avaliações e aprimoramentos, principalmente quanto aos dados clínicos dos encaminhamentos

Epidermólise bolhosa hereditária: atualização dos aspectos clínicos e genéticos

Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.A epidermólise bolhosa hereditária compreende um grupo de doenças genéticas caracterizadas por fragilidade cutânea e formação de bolhas na pele e nas mucosas em resposta a trauma mínimo. A epidermólise bolhosa é clínica e geneticamente muito heterogênea, classificada em quatro tipos principais de acordo com a camada da pele na qual ocorre a formação de bolhas: simples (intraepidérmica), juncional (dentro da lâmina lúcida da membrana basal), distrófica (abaixo da membrana basal) e de Kindler (padrão misto de clivagem da pele). Além disso, a epidermólise bolhosa é subclassificada em diversos subtipos, que consideram as características clínicas, a distribuição das bolhas e a gravidade dos sinais cutâneos e extracutâneos. Variantes patogênicas em pelo menos 16 genes, que codificam proteínas essenciais para integridade e adesão das camadas da pele, já foram associadas aos distintos subtipos de epidermólise bolhosa. A marcante heterogeneidade da doença, que inclui fenótipos com amplo espectro de gravidade e muitos genes causais, dificulta sua classificação e seu diagnóstico. Por isso, dermatologistas e geneticistas reúnem‐se periodicamente a fim de revisar e atualizar os critérios de classificação da doença. A presente revisão tem como objetivo atualizar o estado da arte sobre a epidermólise bolhosa hereditária, com foco especial nos aspectos clínicos e genéticos associados, e trazer dados do mais recente consenso de reclassificação, publicado em 2020

Infantile hemangiomas : risk factors for complications, recurrence and unaesthetic sequelae

Background: Infantile hemangiomas (IH) occur in approximately 4% to 10% of the pediatric population. The identification of clinical subtypes and conditions that indicate increased risk for complications is essential for therapeutic success. Objectives: To identify risk factors for complications, recurrence and unaesthetic sequelae. Methods: Retrospective cohort of patients with infantile hemangiomas undergoing follow-up at the Dermatology Service of Universidade Federal de Ciências da Saúde de Porto Alegre, between 2006 and 2018. Results: 190 patients were included; 24% had some type of complication, ulceration being the most frequent, and 86% required treatment. On correlation, ulceration was statistically related to mixed IH (p = 0.004), segmental IH (p < 0.01) and location in the gluteal region (p = 0.001). The mean time of treatment with propranolol was 12.7 months. Patients with PHACES syndrome and segmental infantile hemangioma required longer treatment (p < 0.001 and p = 0.0407, respec- tively), as well as those who started treatment after five months of life (p < 0.0001). Recurrence occurred in 16.6% of the treated patients, all-female; 94% were located on the head and neck (mainly on the upper eyelid, cyrano, S3 segment, and with parotid involvement); 61% and 38.8% were of the mixed and deep subtypes, respectively. Approximately 1/3 of the patients had some unaesthetic sequelae. Study limitations: As this is a retrospective study, data and photos of some patients were lost. Conclusions: Mixed and segmental hemangiomas are risk factors for ulceration and sequelae. Recurrence occurs more often in females and segmental hemangiomas. Segmental infantile hemangioma and PHACES syndrome require a longer time of treatment. Specific protocols are required for infantile hemangiomas with a high risk of recurrence

Gene panel for the diagnosis of epidermolysis bullosa : proposal for a viable and efficient approach

Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. His-torically, diagnosis is achieved by immunofluorescence mapping or transmission electronmicroscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, accessto diagnostic methods is limited, and consequently, most patients do not have an accuratediagnosis. Diagnosis allows the indication of prognosis and genetic counselling of the patient.Objectives: To evaluate the cost-effectiveness of a gene panel compared to immunofluores-cence mapping and transmission electron microscopy by analyzing its benefits, limitations, andeconomic aspects.Methods: The gene panel included the 11 main genes associated with epidermolysis bullosa. Thetechniques were compared, assessing the average cost, advantages, and limitations, through aprice survey and literature review

Intrafamilial clinical variability in four families with incontinentia pigmenti

Incontinentia Pigmenti (IP) is an X-linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF-κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial cases, were included in the study. The patients were subjected to clinical examination and collection of family histories for assessment of intrafamilial clinical variability. All familial cases carried the IKBKGdel recurrent deletion. A noticeable intrafamilial clinical variability was observed in all studied families, with mild and severe cases co-occurring within a same family. Additionally, to best of our knowledge, our study was the first to address the variability of dental defects within IP families, and here too, our results reveal remarkable differences among affected relatives. A number of as yet unidentified genes might act as modifiers, influencing disease expressivity. Our study found important clinical variability within four IP families and contributes to the understanding of the genetic background involved in IP expressivity