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

Abstract 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, respectively), 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

Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and consequently, most patients do not have an accurate diagnosis. Diagnosis allows the indication of prognosis and genetic counselling of the patient. Objectives: To evaluate the cost-effectiveness of a gene panel compared to immunofluorescence mapping and transmission electron microscopy by analyzing its benefits, limitations, and economic aspects. Methods: The gene panel included the 11 main genes associated with epidermolysis bullosa. The techniques were compared, assessing the average cost, advantages, and limitations, through a price survey and literature review. Results: Both immunofluorescence mapping and transmission electron microscopy require skin biopsy, are dependent on the investigator's expertise, and are subject to frequent inconclusive results. The gene panel is effective for the conclusive diagnosis of epidermolysis bullosa, presents high efficiency and accuracy, is economically feasible, and excludes the need for biopsy. The gene panel allows for prognosis, prenatal genetic diagnosis, and genetic counseling. Study limitations: It was not possible to find laboratories that perform transmission electron microscopy for epidermolysis bullosa diagnosis in Brazil. Conclusion: This study supports the gene panel as the first-choice method for epidermolysis bullosa diagnosis.

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Abstract Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

Inherited epidermolysis bullosa: update on the clinical and genetic aspects

Abstract 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.

Dermatophytosis caused by Microsporum gypseum in infants: report of four cases and review of the literature

Abstract Dermatophytosis caused by Microsporum gypseum is rare, especially in infants, with few published cases. Diagnosis in this age group is frequently delayed. We review the literature and report 4 new cases of tinea of glabrous skin caused by M. gypseum mimicking eczema in infants. Considering new and previously reported cases, half of patients were exposed to sand, emphasizing the importance of this transmission vehicle in this age group. In conclusion, although rare, dermatophytosis by M. gypseum should be part of the differential diagnosis of inflammatory dermatosis in infants. A clinical suspicion and the availability of culture are keys to the diagnosis.

Bromoderma in an infant

Abstract Bromoderma is a cutaneous eruption caused by the absorption of bromide. Clinical manifestations include acneiform and vegetative lesions. We report the case of an infant with bromoderma caused by the use of syrup for abdominal colic containing calcium bromide. The lesions regressed after discontinuation of the drug.

Alterações estomatognáticas e de fala são comuns entre crianças com incontinência pigmentar / Stomatognathic and speech alterations are common among children with incontinentia pigmenti

Objetivo Identificar possíveis alterações fonoaudiológicas de crianças com Incontinência Pigmentar (IP), buscando caracterizar o papel da Fonoaudiologia na avaliação e manejo dessa condição genética. Métodos A amostra foi composta por sete crianças do gênero feminino com diagnóstico de IP. Todas foram submetidas aos procedimentos de avaliação nas áreas de motricidade orofacial, deglutição, fala e voz. Resultados Os pacientes que compuseram a amostra tinham média de idade de 6,4 anos. Dentre as principais características clínicas estruturais verificadas, destacaram-se a presença de diastemas não fisiológicos e anormalidades de palato duro, encontradas em 85,7% da amostra, além da agenesia dentária em 71,4% dos casos. Quanto aos achados funcionais, 71,4 % apresentaram alteração de mobilidade da língua e 57,1 %, mastigação inadequada. Em relação às alterações de fala, os principais achados foram alterações fonéticas e/ou fonológicas, verificadas em 85,7% da amostra, sendo mais comum a alteração fonética caracterizada pela distorção na fricativa alveolar [s], presente em 57,1% dos casos. Nenhuma das crianças apresentou alteração de voz e deglutição, de acordo com o protocolo utilizado. Além disso, não se evidenciou anormalidade de audição, de acordo com a queixa familiar ou por meio da observação durante a avaliação. Conclusão Nesta amostra, as alterações fonoaudiológicas mais frequentes entre os pacientes com IP relacionaram-se, principalmente, com as estruturas do sistema estomatognático e com a fala. .

Purpose To identify possible speech-language disorders in children with Incontinentia Pigmenti (IP), seeking to characterize the role of speech therapy in the evaluation and management of this genetic condition. Methods The sample was composed of seven female children diagnosed with IP. Results The patients in the sample had a mean age of 6.4 years. Among the main structural features verified in the patients, highlighted the presence of no physiological diastema and hard palate abnormalities, found both in 85.7 % of the sample, in addition to tooth agenesis in 71.4% of cases. As for functional findings, 71.4 % of the sample had abnormal tongue mobility and 57.1%, inappropriate chewing. As for changes in speech, the main findings consisted of phonetic/phonological alterations, verified in 85.7 % of the sample, being the most common phonetic alteration characterized by distortion of alveolar fricative [s], present in 57.1 % of cases. None of the children had abnormal voice and swallowing according to the used protocol. Furthermore, no detectable hearing abnormality was observed according to claim of the family or by observation during the evaluation. Conclusion In this sample the most frequent speech-language alterations verified among the patients with IP were mainly related to the stomatognathic system structures and speech. .

Úlcera de Buruli / Buruli ulcer

A úlcera de Buruli, uma doença infecciosa causada pela Mycobacterium ulcerans (M. ulcerans),é a terceira micobacteriose em ocorrência, após a hanseníase e a tuberculose. Essa micobacteriose atípica tem sido relatada em mais de 30 países, principalmente, nos que têm climas tropicais e subtropicais, mas a sua epidemiologia permanece obscura. Recentemente, os primeiros casos autóctones do Brasil foram relatados, fazendo com que dermatologistas brasileiros estejam atentos a esse diagnóstico. O quadro clínico varia: nódulos, áreas de edema, placas, mas a manifestação mais típica é uma grande úlcera, que ocorre, em geral, nas pernas ou nos braços. Apesar do amplo conhecimento quanto ao seu quadro clínico em países endêmicos, nas outras áreas, esse diagnóstico pode passar despercebido. Assim, médicos devem ser orientados quanto à úlcera de Buruli, pois o diagnóstico precoce, o tratamento específico e a introdução de cuidados na prevenção de incapacidades são essenciais para uma boa evolução.

Buruli ulcer, an infectious disease caused by Mycobacterium ulcerans, is the third most prevalent mycobacteriosis, after tuberculosis and leprosy. This atypical mycobacteriosis has been reported in over 30 countries, mainly those with tropical and subtropical climates, but its epidemiology remains unclear. The first autochthonous cases of infection in Brazil have recently been described, making this diagnosis important for Brazilian dermatologists. Clinical manifestations vary from nodules, areas of edema, and plaques, but the most typical presentation is a large ulcer, usually in the limbs. Despite considerable knowledge about its clinical manifestations in some endemic countries, in other areas the diagnosis may be overlooked. Therefore, physicians should be educated about Buruli ulcer, since early diagnosis and treatment, including measures to prevent disability, are essential for a good outcome.

Piloleiomioma simulando morfea en un niño / Piloleiomyoma mimicking morphea in a child

Los piloleiomiomas son tumores cutáneos raros que tienen origen en el músculo erector del pelo. Presentamos el caso de un niño de tres años de edad con una placa indurada en el glúteo izquierdo, asintomática, que estuvo presente desde los tres meses de edad. El examen anatomopatológico mostró un piloleiomioma. Este tumor benigno es raro en niños y suele ser confundido con otras dermatosis. En este artículo revisamos los casos pediátricos publicados y los aspectos genéticos actuales de esta enfermedad. Además, llamamos la atención para el diagnóstico diferencial con otras patologías en la edad pediátrica (AU)

Piloleiomyomas are rare benign smooth muscle tumors arising from the aerector pili muscles in the skin.We describe a three year-old boy presenting with an asymptomatic hard plaque on the left gluteus, which was present since 3 months of age.The anatomopathological examination evidenced a piloleiomyoma.There are few previous reports of piloleiomyomas in children and so they are frequently confounded with other disorders. In this paper, we review the literature on the pediatric cases reported and the current genetics aspects of this disease. Moreover, we make the differential diagnosis with other entities in children (AU)

Ocorrência familiar da Síndrome de Pendred / Familial occurrence of Pendred syndrome

No presente estudo é relatado um caso típico de Síndrome de Pendred, onde a investigaçäo familiar demonstrou outro caso típico e um atípico em uma mesma geraçäo. Säo revisados os mais importantes aspectos clínicos da síndrome, os métodos de investigaçäo para o seu diagnóstico e o manejo terapêutico. Conclui-se que esta síndrome é um importante diagnóstico diferencial em patologias da tireóide e do aparelho auditivo, principalmente em crianças com surdez neurossensorial.