Orofacial Anomalies in Kindler Epidermolysis Bullosa.

Importance: Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported. Objective: To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa. Design, Settings, and Participants: This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile. Participants included a convenience sampling of all patients with a diagnosis of Kindler epidermolysis bullosa. Main Outcomes and Measures: The primary outcomes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal disease, gingival hyperplasia, vestibular obliteration, cheilitis, angular cheilitis, chronic lip wounds, microstomia, and oral squamous cell carcinoma. Results: The cohort consisted of 36 patients (15 female [42%] and 21 male [58%]; mean age at first examination, 23 years [range, 2 weeks to 70 years]) with Kindler epidermolysis bullosa. The follow-up ranged from 1 to 24 years. The enamel structure was assessed in 11 patients, all of whom presented with enamel structure abnormalities. The severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting. Additional orofacial features observed include gingivitis and periodontal disease, which was present in 90% (27 of 30 patients) of those assessed, followed by intraoral lesions (16 of 22 patients [73%]), angular cheilitis (24 of 33 patients [73%]), cheilitis (22 of 34 patients [65%]), gingival overgrowth (17 of 26 patients [65%]), microstomia (14 of 25 patients [56%]), and vestibular obliteration (8 of 16 patients [50%]). Other features included chronic lip ulcers (2 patients) and oral squamous cell carcinoma with lethal outcome (2 patients). Conclusions and Relevance: These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa and underscore the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care.

Epidemiological Assessment of a Pediatric Palliative Care Clinic at a Brazilian Quaternary Hospital: 20 Years of Experience.

Background: The pediatric palliative care (PPC) sets up an interdisciplinary approach of chronic complex diseases throughout birth to adolescence. It encompasses countless contrasts in development and diagnosis scopes, which make this area a challenge to nonpediatric practitioners. Objective: We sought to assess the most prevalent diseases in follow-up of the PPC team. Methods: We analyzed the medical records of PPC clinic during the years 2001 and 2021 and the diagnosis of outpatients. We established a parallel with the world scientific literature concerning the epidemiology of PPC. Results: The most prevalent diseases were epidermolysis bullosa (36.9%), followed by neurological Inherited Errors of Metabolism (IEM) diseases (19.0%), IEM diseases (14.3%), dysmorphological and chromosomal disorders (8.5%), skeletal disorders mainly osteogenesis imperfecta (6.9%), and liver transplantation conditions (5.5%) (p < 0.001). The less frequent conditions were external causes, such as neonatal insults or traffic accidents (2.8%), cancer (1.7%), congenital cardiopathies (1.4%), congenital infectious diseases (1.1%), gastrointestinal and hepatic conditions (0.8%), and rheumatological conditions (0.3%). The patients were older at diagnosis (6.9 years) and at PPC referral (13.2 years) than patients with epidermolysis bullosa and skeletal disorders and dysmorphological and chromosomal disorders were younger on referral. Conclusion: There are a lot of complex chronic conditions which could benefit from palliative care in pediatric setting. However, epidemiological and symptomatological assessment of the health service is necessary to provide an appropriate care to the country's reality.

Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil.

BACKGROUND: Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce. OBJECTIVES: To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022. METHODS: An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death. RESULTS: Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died. STUDY LIMITATIONS: Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing. CONCLUSIONS: In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involves a skin biopsy. Most recently, whole exome sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families. OBJECTIVE: To compare the results of immunomapping and molecular analysis and to describe the characteristics of a Brazilian cohort of patients with EB. METHODS: Patients were submitted to clinical evaluation and WES using peripheral blood samples. WES results were compared to those obtained from immunomapping testing from skin biopsies. RESULTS: 67 patients from 60 families were classified: 47 patients with recessive dystrophic EB (DEB), 4 with dominant DEB, 15 with EB simplex (EBS), and 1 with junctional EB (JEB). Novel causative variants were: 10/60 (16%) in COL7A1 associated with recessive DEB and 3 other variants in dominant DEB; one homozygous variant in KRT5 and another homozygous variant in PLEC, both associated with EBS. Immunomapping was available for 59 of the 67 patients and the results were concordant with exome results in 37 (62%), discordant in 13 (22%), and inconclusive in 9 patients (15%). STUDY LIMITATIONS: Even though EB is a rare disease, for statistical purposes, the number of patients evaluated by this cohort can still be considered limited; other than that, there was a significant difference between the proportion of types of EB (only one case with JEB, against more than 50 with DEB), which unfortunately represents a selection bias. Also, for a small subset of families, segregation (usually through Sanger sequencing) was not an option, usually due to deceased or unknown parent status (mostly the father). CONCLUSION: Although immunomapping has been useful in services where molecular studies are not available, this invasive method may provide a misdiagnosis or an inconclusive result in about 1/3 of the patients. This study shows that WES is an effective method for the diagnosis and genetic counseling of EB patients.

Oleogel-S10 in Dystrophic Epidermolysis Bullosa: A Case Series Evaluating the Impact on Wound Burden Over Two Years.

Epidermolysis bullosa (EB) is a group of rare, difficult-to-treat, inherited multisystem diseases affecting epithelial integrity. Impaired wound healing is central and can lead to serious clinical complications, deformities, and symptoms with a devastating impact on quality of life (QoL). Dressing changes and wound care are central to the management of EB. Recently Oleogel-S10 (also known as birch bark extract or birch triterpenes) was approved in Europe and the UK for treating EB wounds. This approval was based on data from the EASE phase 3 study, which demonstrated Oleogel-S10 accelerated wound healing, reduced total wound burden, and decreased the frequency of dressing changes in patients with EB. A retrospective analysis of medical records was conducted for up to 24 months in 13 patients with EB treated with Oleogel-S10 through an early access programme in Colombia. Effectiveness was assessed by measuring body surface area percentage (BSAP) and total body wound burden (EBDASI). Tolerability and safety were monitored throughout. This is the first report to evaluate the effectiveness of Oleogel-S10 in clinical practice. The results showed a reduction in percentage of BSA affected, from a mean of 27.3% at baseline to 10.4% at 24-month follow-up, despite treatment interruptions. A reduction in EBDASI skin activity score of - 16.2 (24 months) together with a reduced skin damage index score of - 15.4 (18 months) was also observed. Physicians, patients, and caregivers perceived faster wound closure. Adherence with therapy by patients was good, and patients expressed satisfaction with treatment and reported improvements in self-esteem, productivity, and social interaction. Oleogel-S10 was well tolerated; however, two patients reported worsening wounds related to gauze adherence. Two deaths during treatment interruption were reported and was not considered related to Oleogel-S10. This study supports the effectiveness of Oleogel-S10 in a real-world scenario in a country with scarce resources for the treatment of EB.

Health-related quality of life and clinical severity in people with epidermolysis bullosa - A proposal for assessing nutritional compromise by body mass index (Birmingham Epidermolysis Bullosa Severity Score).

Introduction: Introduction and objectives: epidermolysis bullosa (EB) is a rare genetic disease characterised by skin fragility with blisters and erosions on the skin and/or mucous membranes. People with EB often experience several extracutaneous manifestations, including clinical and health-related quality of life (HRQoL) complications. Herein, we evaluate their HRQoL and clinical severity and propose an objective criterion for estimating nutritional compromise using the Birmingham Epidermolysis Bullosa Severity Score (BEBS) tool. Methods: this series of cases included people with EB, monitored by a multi-professional team. Clinical severity was assessed with the BEBS, using body mass index ranges by age, as an objective proposal, to estimate the degree of nutritional compromise. To assess HRQoL, the Children's Dermatology Life Quality Index (individuals aged 4-16 years) and the Quality of Life Evaluation in Epidermolysis Bullosa - Brazilian Portuguese (individuals 17 years and over) were used. Results: of the nine individuals with recessive dystrophic EB (88.9 % female and 12.91 (SD = 11.71) years), the mean total BEBS score was 24.47 (SD = 12.80) points on a scale of 0 to 100 points. Six participants had significant nutritional compromise according to the proposed criteria. Five of the six participants evaluated for HRQoL reported experiencing some impact, with individuals aged 17 and over being more affected and with greater clinical severity. Conclusions: individuals with greater clinical severity of EB experience a more significant impact on their HRQoL. The proposed quantitative criteria for assessing nutritional compromise may help standardise assessments by professionals monitoring the nutritional status of individuals with EB. Keywords: Quality of life. Epidermolysis bullosa. Body mass index.

Introducción: Introducción y objetivos: la epidermólisis bullosa (EB) es una rara enfermedad genética caracterizada por fragilidad de la piel con ampollas y erosiones. Las personas con EB experimentan manifestaciones extracutáneas y complicaciones clínicas y de calidad de vida relacionada con la salud (CVRS). Evaluamos la CVRS y la gravedad clínica y proponemos un criterio objetivo para estimar el deterioro nutricional con la herramienta Birmingham Epidermolysis Bullosa Severity Score (BEBS). Métodos: esta serie de casos incluyó pacientes con EB monitoreadas por un equipo multiprofesional. Se evaluó la gravedad clínica con el BEBS utilizando rangos de índice de masa corporal por edad. Para evaluar la CVRS se utilizaron el Children's Dermatology Life Quality Index (individuos de 4 a 16 años) y el Quality of Life Evaluation in Epidermolysis Bullosa ­ Brazilian Portuguese (individuos de 17 años y más). Resultados: de los nueve individuos con EB distrófica recesiva (88,9 % mujeres y 12,91 (DE = 11,71) años), la puntuación total media del BEBS fue de 24,47 (DE = 12,80) puntos en una escala de 0 a 100 puntos. Seis participantes tenían un deterioro nutricional significativo según los criterios propuestos. Cinco de los seis participantes evaluados en la CVRS informaron experimentar algún impacto, siendo los individuos de 17 años y más los más afectados y con mayor gravedad clínica. Conclusiones: los pacientes con mayor gravedad clínica experimentan un impacto más significativo en su CVRS. Los criterios cuantitativos propuestos para evaluar el deterioro nutricional pueden ayudar a estandarizar las evaluaciones de los profesionales que monitorean el estado nutricional de las personas con EB.

Cuidados de enfermagem para paciente pediátrico com dermatite atópica e epidermólise bolhosa: revisão integrativa / Nursing care for pediatric patients with atopic dermatitis and epidermolysis bullosa: integrative review / Atención de enfermería a pacientes pediátricos con dermatitis atópica y epidermólisis ampollosa: revisión integrativa

A Dermatite Atópica e a Epidermólise Bolhosa são doenças crônicas que afetam a estrutura morfológica e bioquímica da pele, provocando lesões e alterações sistêmicas nos indivíduos afetados, podendo ocasionar infecções generalizadas. Este estudo teve como objetivo avaliar e sintetizar as contribuições das pesquisas produzidas sobre os cuidados de enfermagem para crianças com dermatite atópica ou epidermólise bolhosa. Trata-se de uma revisão integrativa, cuja pergunta norteadora foi: "Quais são os cuidados de enfermagem para o paciente pediátrico com dermatite atópica ou epidermólise bolhosa?". Sua busca aconteceu nas bases de dados: Medline; CINAHL; LILACS e CUIDEN. Não houve restrição quanto ao ano de publicação e foram analisados estudos publicados nos idiomas inglês, português e espanhol. Como resultados foram incluídos 23 estudos, dois quais duas categorias foram elencadas: Assistência de Enfermagem às Crianças Portadoras de Dermatite Atópica e a Epidermólise Bolhosa e, Educação em Saúde. Evidenciou-se a necessidade de investimento em pesquisas bem delineadas sobre o tema, pois a raridade da condição, a escassez de referencial e a dificuldade em encontrar pacientes aptos para intervenções são fatores que contribuem neste cenário científico.

The Atopic Dermatitis and Epidermolysis Bullosa are chronic diseases that affect the morphological and biochemical structure of the skin, causing lesions and systemic changes in affected individuals, which can lead to generalized infections. This study aimed to evaluate and synthesize the contributions of research produced on nursing care for children with atopic dermatitis or epidermolysis bullosa. This is an integrative review, whose guiding question was: "What is the nursing care for pediatric patients with atopic dermatitis or epidermolysis bullosa?". Your search took place in the following databases: Medline; CINAHL; LILACS and CUIDEN. There was no restriction on the year of publication and studies published in English, Portuguese and Spanish were analyzed. As results, 23 studies were included, two of which two categories were listed: Nursing Care for Children with Atopic Dermatitis and Epidermolysis Bullosa and Health Education. The need for investment in well-designed research on the topic was highlighted, as the The rarity of the condition, the scarcity of references and the difficulty in finding patients suitable for interventions are factors that contribute to this scientific scenario.

La Dermatitis Atópica y la Epidermólisis Bullosa son enfermedades crónicas que afectan la estructura morfológica y bioquímica de la piel, provocando lesiones y cambios sistémicos en los individuos afectados, que pueden derivar en infecciones generalizadas. Este estudio tuvo como objetivo evaluar y sintetizar las contribuciones de las investigaciones producidas sobre los cuidados de enfermería al niño con dermatitis atópica o epidermólisis ampollosa. Se trata de una revisión integradora, cuya pregunta orientadora fue: "¿Cuál es el cuidado de enfermería al paciente pediátrico con dermatitis atópica o epidermólisis ampollosa?". Su búsqueda se realizó en las siguientes bases de datos: Medline; CINAHL; LILAS y CUIDEN. No hubo restricción en el año de publicación y se analizaron los estudios publicados en inglés, portugués y español. Como resultados se incluyeron 23 estudios, dos de los cuales se enumeraron dos categorías: Atención de Enfermería al Niño con Dermatitis Atópica y Epidermólisis Bullosa y Educación para la Salud.Se destacó la necesidad de invertir en investigaciones bien diseñadas sobre el tema, ya que la rareza de la condición, la escasez de referencias y la dificultad para encontrar pacientes aptos para las intervenciones son factores que contribuyen a este escenario científico.

Síndrome de Bart: aplasia cutis congénita y epidermólisis bullosa / Bart's syndrome: aplasia cutis congenita and epidermolysis bullosa

La aplasia cutis congénita, también conocida como síndrome de Bart, ha sido asociada con todos los subtipos principales de epidermólisis bullosa. Esta enfermedad afecta a 1 por cada 10 000 recién nacidos vivos; solo se han descrito 500 casos en la literatura médica. Se caracteriza por afectar un miembro inferior con patrón en forma de S y presentar lesiones de epidermólisis bullosa en cualquier otra parte del cuerpo. Se presenta el caso de una neonata con las características clínicas mencionadas, hospitalizada en el Servicio de Neonatología del Hospital Pediátrico Universitario «José Luis Miranda». Este diagnóstico es principalmente clínico y se basa en la evidencia de áreas de pérdida cutánea con predominio en miembros inferiores, lesiones ampollares en piel y mucosas, y deformidades ungueales. Su pronóstico puede ser fatal. Este caso reviste gran interés por su baja incidencia; su diagnóstico precoz contribuyó a evitar complicaciones.

Aplasia cutis congenita, also known as Bart's syndrome, has been associated with all the major epidermolysis bullosa subtypes. This disease affects 1 in 10, 000 live births; only 500 cases have been described in medical literature. It is characterized by affecting a lower limb with an S-shaped pattern and presenting epidermolysis bullosa lesions in any other part of the body. We present a female neonate with the aforementioned clinical features, who was hospitalized in the Neonatology service at "José Luis Miranda" Pediatric University Hospital. This diagnosis is mainly clinical and is based on evidence of areas of skin loss predominantly on the lower limbs, bullous lesions on the skin and mucous membranes and nail deformities. Its prognosis can be fatal. This case is of great interest due to its low incidence; its early diagnosis helped to avoid complications.

Epidermolysis bullosa in oral health: clinical manifestations and salivary alterations.

Epidermolysis bullosa (EB) is an inherited disease characterized by the fragility of the skin and mucous membranes. All types/subtypes of EB can lead to alterations in the mouth and glands. OBJECTIVE: To evaluate clinical manifestations of EB on the oral mucosa and alterations in salivary flow. MATERIALS AND METHODS: Sociodemographic and clinical data were obtained from EB individuals. The salivary flow analysis was performed in EB and in non-EB patients. Fischer's exact test was applied to the qualitative variables, and the Mann-Whitney test was applied to the quantitative data. RESULTS: A total of 11 cases of EB were evaluated, and 3 types of EB were diagnosed (recessive dystrophic-RDEB; junctional-JEB; and simplex-EBS). Only individuals with RDEB or JEB showed the oral manifestation of the disease. The most affected sites were the lips (54%), hard palate (36%), and oral mucosa (27%). Ulcer and ankyloglossia were diagnosed in all RDEB cases. Regarding salivary flow, an intragroup comparison revealed an increase in stimulated versus unstimulated collection in the control sample (p = 0.0064). The EB group showed no difference (p = 0.6086). We also observed no differences in salivary volume between the control and EB groups (p = 0.7117 and p = 0.5557, unstimulated and stimulated flows, respectively). CONCLUSIONS: No oral manifestations were observed in EBS subjects. It is unclear whether individuals with EB are predisposed to manifest hyposalivation. CLINICAL RELEVANCE: Severe cases of EB show broad alterations in the oral mucosa, whereas the saliva needs to be better evaluated.

Longitudinal study of wound healing status and bacterial colonisation of Staphylococcus aureus and Corynebacterium diphtheriae in epidermolysis bullosa patients.

Epidermolysis bullosa (EB) is an inherited disorder characterised by skin fragility and the appearance of blisters and wounds. Patient wounds are often colonised or infected with bacteria, leading to impaired healing, pain and high risk of death by sepsis. Little is known about the impact of bacterial composition and susceptibility in wound resolution, and there is a need for longitudinal studies to understand healing outcomes with different types of bacterial colonisation. A prospective longitudinal study of 70 wounds from 15 severe EB patients (Junctional and Recessive Dystrophic EB) from Chile. Wounds were selected independently of their infected status. Wound cultures, including bacterial species identification, composition and Staphylococcus aureus (SA) antibiotic susceptibility were registered. Wounds were separated into categories according to their healing capacity, recognising chronic, and healing wounds. Hundred-one of the 102 wound cultures were positive for bacterial growth. From these, 100 were SA-positive; 31 were resistant to Ciprofloxacin (31%) and only seven were methicillin-resistant SA (7%). Ciprofloxacin-resistant SA was found significantly predominant in chronic wounds (**P < .01). Interestingly, atoxigenic Corynebacterium diphtheriae (CD) was identified and found to be the second most abundant recovered bacteria (31/101), present almost always in combination with SA (30/31). CD was only found in Recessive Dystrophic EB patients and not related to wound chronicity. Other less frequent bacterial species found included Pseudomonas aeruginosa, Streptococus spp. and Proteus spp. Infection was negatively associated with the healing status of wounds.

Vivências de mães no cuidado a crianças e adolescentes com Epidermólise Bolhosa / Experiencias de madres en el cuidado de niños y adolescentes con Epidermólisis Ampollosa / Experiences of mothers in the care of children and adolescents with epidermolysis bullosa

Resumo Objetivo conhecer e analisar as vivências de mães no cuidado a crianças e adolescentes com Epidermólise Bolhosa. Método estudo descritivo de abordagem qualitativa desenvolvido junto a dez mães de crianças e adolescentes com Epidermólise Bolhosa de diferentes regiões do Brasil, a partir de entrevistas semiestruturadas, áudio e vídeo gravadas, por via remota, utilizando-se a plataforma Google Meet®, entre setembro e novembro de 2021. A técnica da análise temática direcionou a apreciação do material empírico. Resultados participaram do estudo mães com idade entre 23 e 53 anos. Duas categorias traduzem a vivência materna: i) O "baque" do diagnóstico e os desafios iniciais e ii) "Deixar de viver para viver para ele": as mudanças no cotidiano das famílias. Considerações finais e implicações para a prática as mães vivenciaram sentimentos de medo e insegurança diante do diagnóstico do filho e a rotina de cuidados, em especial, as trocas diárias de curativos, acarretaram sobrecarga física e emocional. Esses resultados podem subsidiar o acompanhamento dessas famílias de modo a instrumentalizá-las para o cuidado e apoiá-las emocionalmente.

Resumen Objetivo conocer y analizar la vida de las madres en el cuidado de niños y adolescentes con Epidermólisis Bullosa. Método estudio descriptivo de abordaje cualitativo desarrollado junto a diez madres de niños y adolescentes con Epidermólisis Bullosa de diferentes regiones de Brasil, a partir de entrevistas semiestructuradas con grabación de audio y video, por vía remota, utilizando la plataforma Google Meet®, entre septiembre y noviembre de 2021. La técnica de análisis temático dirigió la apreciación del material empírico. Resultados participaron en el estudio mujeres de entre 23 y 53 años. Dos categorías traducen la experiencia materna: i) El "shock" del diagnóstico y los retos iniciales; y ii) "Dejar de vivir para vivir por él": los cambios en la vida cotidiana de las familias. Consideraciones finales e implicaciones para la práctica las madres experimentaron sentimientos de miedo e inseguridad ante el diagnóstico de su hijo y la rutina de cuidados, especialmente los cambios de apósito diarios provocaron una sobrecarga física y emocional. Estos resultados pueden servir de apoyo para el seguimiento de estas familias, con el fin de poder cuidarlas y apoyarlas emocionalmente.

Abstract Objective to know and analyze mothers' experiences in caring for children and adolescents with Epidermolysis Bullosa. Method a descriptive qualitative study was developed with ten mothers of children and adolescents with epidermolysis bullosa from different regions of Brazil using semi-structured interviews recorded remotely using Google Meet® between September and November 2021. The thematic analysis technique guided the appreciation of the empirical material. Results mothers aged between 23 and 53 years participated in the study. Two categories translate the maternal experience: i) the "shock" of the diagnosis and the initial challenges and ii) "Stop living to live for them": the changes in the families' daily life. Final considerations and implications for practice mothers experienced fear and insecurity when their child was diagnosed, and the care routine, especially the daily dressing changes, caused a physical and emotional burden. These results can support the follow-up of these families to provide them with care tools and emotional support.

Cuidados de enfermagem com crianças e adolescentes com epidermólise bolhosa: revisão sistemática / Cuidados de enfermería a niños y adolescente con epidermólisis ampollosa: revisión sistemática / Nursing care for children and adolescents with epidermolysis bullosa: a systematic review

Resumo Objetivo Analisar a produção científica referente às ações/Intervenções de Enfermagem no ambiente hospitalar relacionadas ao cuidado com crianças e adolescentes com epidermólise bolhosa. Métodos Revisão sistemática, cuja busca se deu nas bases Cinahl, MEDLINE®/PubMed®, SCOPUS, LILACS e SciELO, realizada no período de setembro de 2020 a janeiro de 2021. Para a busca, foram utilizados os descritores "epidermólise bolhosa" AND "criança" AND "adolescente" AND "enfermagem", nas bases Lilacs e SciELO, e "epidermolysis bullosa" AND "children" AND "adolescent" AND, "nursing" nas demais bases em inglês. Resultados Houve maior registro de artigos publicados com base na pergunta norteadora tendo como país de origem os Estados Unidos (22%). A maioria da classificação era no nível VI (44%) da evidência científica. Ainda, 86% dos estudos envolveram pesquisas para o plano de cuidados. As evidências encontradas decorreram de opiniões de especialistas, estudos de casos e consenso. Os fatores de cuidados mais citados foram planos de cuidados voltados à pele; troca de fraldas; cuidados com as roupas e uso de coberturas antiaderentes. Conclusão As pesquisas reportaram dificuldades quanto à disponibilidade de materiais, tratamento e profissionais especializados, além das limitações dos conhecimentos na prática clínica voltada às características da epidermólise bolhosa. Dentre os cuidados, houve destaque para informação sobre a complexidade e as características da ferida como forma de antecipar as estratégias de cuidado.

Resumen Objetivo Analizar la producción científica referente a las acciones/intervenciones de enfermería en el ambiente hospitalario relacionadas con el cuidado a niños y adolescentes con epidermólisis ampollosa. Métodos Revisión sistemática, cuya búsqueda se realizó en las bases Cinahl, MEDLINE®/PubMed®, SCOPUS, LILACS y SciELO, realizada en el período de septiembre de 2020 a enero de 2021. Para la búsqueda se utilizaron los descriptores "epidermólisis ampollosa" AND "niño" AND "adolescente" AND "enfermería", en las bases Lilacs y SciELO, y "epidermolysis bullosa" AND "children" AND "adolescent" AND, "nursing" en las demás bases en inglés. Resultados Con base en la pregunta orientadora, hubo un mayor registro de artículos publicados que tenían como país de origen Estados Unidos (22 %). La mayoría de la clasificación era de nivel VI (44 %) de la evidencia científica. Además, el 86 % de los estudios incluyeron investigaciones en el plano de los cuidados. Las evidencias encontradas derivaban de opiniones de especialistas, estudios de casos y consenso. Los factores de cuidados más citados fueron planos de cuidados orientados a la piel, cambio de pañales, cuidados con la ropa y uso de coberturas antiadherentes. Conclusión Las investigaciones indicaron dificultades en cuanto a la disponibilidad de material, tratamiento y profesionales especializados, además de las limitaciones de conocimientos en la práctica clínica orientada hacia las características de la epidermólisis ampollosa. Entre los cuidados, se destacó la información sobre la complejidad y las características de la herida como forma de anticipar las estrategias de cuidado.

Abstract Objective To analyze the scientific production regarding actions/Nursing Interventions in hospital environments related to the care of children and adolescents with epidermolysis bullosa. Methods This is a systematic review, which was searched in the CINAHL, MEDLINE®/PubMed®, Scopus, LILACS and SciELO databases, carried out from September 2020 to January 2021. For the search, the descriptors "epidermólise bolhosa" AND "criança" AND "adolescente" AND "enfermagem" were used, in Portuguese, in the LILACS and SciELO databases, and "epidermolysis bullosa" AND "children" AND "adolescent" AND "nursing" in the other databases. Results There was a greater number of articles published based on the guiding question having the United States as the country of origin (22%). Most of the classification was at level VI (44%) of scientific evidence. Still, 86% of studies involved research for the care plan. The evidence found resulted from expert opinions, case studies and consensus. The most cited care factors were skin care plans, diaper changing, clothing care and non-stick coating use. Conclusion The surveys reported difficulties regarding the availability of materials, treatment and specialized professionals, in addition to limitations of knowledge in clinical practice focused on the characteristics of epidermolysis bullosa. Among the care, there was emphasis on information about the wound complexity and characteristics as a way of anticipating care strategies.

Atresia pilórica / Pyloric Atresia

Introducción: La atresia pilórica es una afección rara, que en el 40-50 por ciento de los casos se asocia a otras anomalías, frecuentemente con la epidermolisis bullosa, asociación conocida como síndrome de Carmi. Objetivo: Informar sobre la evolución de una paciente tratada por atresia pilórica que tenía además una epidermolisis bullosa. Presentación del caso: Recién nacida con antecedentes prenatales de polihidramnios, parto eutócico a las 30,4 semanas, sepsis ovular materna, peso al nacer 1430 gramos; múltiples lesiones en piel, ampollosas y aplasia cutis en pierna izquierda. Se ventiló desde sala de partos, La paciente no toleró la alimentación enteral mínima. Se realizó estudio radiográfico y no se visualizó paso de contraste al píloro. Se diagnosticó una atresia pilórica y se operó al cuarto día de nacida. La paciente tenía una atresia pilórica tipo 2: sustitución del tejido pilórico por tejido fibroso. Se hizo una gastroduodenostomía. En su evolución se incrementaron por día las lesiones en piel, y tuvo reapertura del ductus arterioso, trastornos hidroelectrolíticos, y hemidinámicos que provocaron el fallecimiento a los 14 días de nacida. Conclusiones: La atresia pilórica es una afección muy rara, que debe tenerse en cuenta en recién nacidos con epidermolisis bullosa por la frecuente asociación entre estas dos afecciones; además, cuando existen antecedentes de polihidramnios y no tolerancia a la alimentación enteral. Los pacientes con la asociación atresia pilórica y epidermolisis bullosa generalmente presentan una evolución desfavorable(AU)

Introduction: Pyloric atresia is a rare condition, which in 40-50 percent of cases is associated with other anomalies, often with epidermolysis bullosa, an association known as Carmi syndrome. Objective: To report on the evolution of a patient treated due to pyloric atresia who also had epidermolysis bullosa. Case presentation: Female newborn with prenatal history of polyhydramnios, eutocic delivery at 30.4 weeks, maternal ovular sepsis, birth weight 1430 grams, with multiple skin lesions, blisters and aplasia cutis in the left leg. She was ventilated from the delivery room. The patient did not tolerate minimal enteral feeding. A radiographic study was performed and no contrast passage to the pylorus was visualized. Pyloric atresia was diagnosed and operated on the fourth day of birth. The patient had pyloric atresia type 2: replacement of pyloric tissue by fibrous tissue. A gastroduodenostomy was done. In its evolution, skin lesions increased per day and reopening of the ductus arteriosus was performed, she had hydroelectrolyte disorders, and hemidynamic disorders that caused death at 14 days of birth. Conclusions: Pyloric atresia is a very rare condition, which should be taken into account in newborns with epidermolysis bullosa due to the frequent association between these two conditions, also when there is a history of polyhydramnios and no tolerance to enteral feeding. Patients with pyloric atresia and epidermolysis bullosa usually have an unfavorable outcome(AU)

Atresia pilórica / Pyloric Atresia

Introducción: La atresia pilórica es una afección rara, que en el 40-50 por ciento de los casos se asocia a otras anomalías, frecuentemente con la epidermolisis bullosa, asociación conocida como síndrome de Carmi. Objetivo: Informar sobre la evolución de una paciente tratada por atresia pilórica que tenía además una epidermolisis bullosa. Presentación del caso: Recién nacida con antecedentes prenatales de polihidramnios, parto eutócico a las 30,4 semanas, sepsis ovular materna, peso al nacer 1430 gramos; múltiples lesiones en piel, ampollosas y aplasia cutis en pierna izquierda. Se ventiló desde sala de partos, La paciente no toleró la alimentación enteral mínima. Se realizó estudio radiográfico y no se visualizó paso de contraste al píloro. Se diagnosticó una atresia pilórica y se operó al cuarto día de nacida. La paciente tenía una atresia pilórica tipo 2: sustitución del tejido pilórico por tejido fibroso. Se hizo una gastroduodenostomía. En su evolución se incrementaron por día las lesiones en piel, y tuvo reapertura del ductus arterioso, trastornos hidroelectrolíticos, y hemidinámicos que provocaron el fallecimiento a los 14 días de nacida. Conclusiones: La atresia pilórica es una afección muy rara, que debe tenerse en cuenta en recién nacidos con epidermolisis bullosa por la frecuente asociación entre estas dos afecciones; además, cuando existen antecedentes de polihidramnios y no tolerancia a la alimentación enteral. Los pacientes con la asociación atresia pilórica y epidermolisis bullosa generalmente presentan una evolución desfavorable (AU)

Introduction: Pyloric atresia is a rare condition, which in 40-50 percent of cases is associated with other anomalies, often with epidermolysis bullosa, an association known as Carmi syndrome. Objective: To report on the evolution of a patient treated due to pyloric atresia who also had epidermolysis bullosa. Case presentation: Female newborn with prenatal history of polyhydramnios, eutocic delivery at 30.4 weeks, maternal ovular sepsis, birth weight 1430 grams, with multiple skin lesions, blisters and aplasia cutis in the left leg. She was ventilated from the delivery room. The patient did not tolerate minimal enteral feeding. A radiographic study was performed and no contrast passage to the pylorus was visualized. Pyloric atresia was diagnosed and operated on the fourth day of birth. The patient had pyloric atresia type 2: replacement of pyloric tissue by fibrous tissue. A gastroduodenostomy was done. In its evolution, skin lesions increased per day and reopening of the ductus arteriosus was performed, she had hydroelectrolyte disorders, and hemidynamic disorders that caused death at 14 days of birth. Conclusions: Pyloric atresia is a very rare condition, which should be taken into account in newborns with epidermolysis bullosa due to the frequent association between these two conditions, also when there is a history of polyhydramnios and no tolerance to enteral feeding. Patients with pyloric atresia and epidermolysis bullosa usually have an unfavorable outcome(AU)

Estratégias de enfrentamento na vivência da maternidade frente à epidermólise bolhosa / Estrategias de enfrentamiento en la vivencia de la maternidad frente a la epidermólisis bullosa / Coping strategies in the experience of motherhood against epidermolysis bullosa

Objetivos: conhecer as estratégias de enfrentamento utilizadas pela mãe de uma lactente com Epidermólise Bolhosa. Método: estudo de caso único com abordagem qualitativa realizado com a mãe de uma criança com seis meses de idade e diagnóstico clínico de Epidermólise Bolhosa. A coleta de dados ocorreu entre fevereiro e março de 2020 no domicílio da participante, por meio de entrevista em profundidade e observação. As narrativas foram submetidas à análise de conteúdo do tipo temática. Resultados: emergiram categorias temáticas, sendo elas "O (res) significar da maternidade após o diagnóstico de Epidermólise Bolhosa", que aborda os momentos de descoberta da doença rara, bem como a utilização da internet como recurso para o enfrentamento, que apresenta o movimento para aquisição de conhecimentos teóricos para possibilitar o cuidado materno realizados à criança. Conclusão: o estudo permitiu apreender as estratégias de enfrentamento utilizadas na vivência da maternidade diante do nascimento da criança com diagnóstico de Epidermólise Bolhosa.

Objetivo: conocer las estrategias de afrontamiento utilizadas por la madre de una lactante con Epidermólisis Bullosa. Método: estudio de caso único con enfoque cualitativo realizado con la madre de una niña de seis meses de edad y diagnóstico clínico de Epidermólisis Bullosa. La recogida de datos tuvo lugar entre febrero y marzo de 2020 en el domicilio de la participante, a través de una entrevista en profundidad y observación. Las narrativas fueron sometidas al análisis de contenido del tipo temático. Resultados: surgieron categorías temáticas, siendo ellas "O (res)significar de la maternidad después del diagnóstico de Epidermólisis Ampollar", que aborda los momentos de descubrimiento de la enfermedad rara, así como la utilización de internet como recurso para el enfrentamiento, que presenta el movimiento para adquirir conocimientos teóricos para posibilitar el cuidado materno realizado a la niña. Conclusión: el estudio permitió aprehender las estrategias de enfrentamiento utilizadas en la vivencia de la maternidad ante el nacimiento del niño con diagnóstico de Epidermólisis Ampollar.

Objective: to know the coping strategies used by the mother of an infant with Epidermolysis Bullosa. Method: a single case study with a qualitative approach conducted with the mother of a six-month-old child with clinical diagnosis of Epidermolysis Bullosa. Data collection occurred between February and March 2020 at the participant's home, through in-depth interviews and observation. The narratives were submitted to thematic content analysis. Results: thematic categories emerged, being "(Re)meaning motherhood after the diagnosis of Epidermolysis Bullosa", which addresses the moments of discovery of the rare disease, as well as the use of the internet as a resource for coping, that presents the movement to acquire theoretical knowledge to enable maternal care performed to the child. Conclusion: the study allowed the understanding of the coping strategies used in the experience of motherhood before the birth of the child diagnosed with Epidermolysis Bullosa.

School inclusion of children and adolescents with epidermolysis bullosa: The mothers' perspective.

OBJECTIVE: to understand the school inclusion of children and adolescents with Epidermolysis Bullosa from the mothers' perspective. METHOD: qualitative study, based on Urie Bronfenbrenner's Bioecological Theory of Development, conducted between September and November 2021. Interviews were conducted with six mothers from different Brazilian locations, recording audio and video using the Google Meet® platform. The statements were analyzed using thematic analysis. RESULTS: two categories were identified: i) The school microsystem: challenges and adaptations for inclusion of children and adolescents with Epidermolysis Bullosa; ii) The school-family mesosystem: possibilities to promote better school inclusion. Mothers highlighted the challenges in school inclusion as well as the benefits provided by social interaction. In order to facilitate the inclusion, the school microsystem promoted adaptations in the teaching-learning process, structural changes, hiring of caregivers, and dialogues with family members. CONCLUSION: initially, school inclusion was permeated by feelings such as fear and anguish, but the adaptations contributed to promote well-being, welcoming, and social integration of children and adolescents.

Filsuvez® gel (Oleogel-S10) para epidermólisis bullosa / Filsuvez® gel (Oleogel-S10) for epidermolysis bullosa

INTRODUCCIÓN: La epidermólisis bullosa o ampollosa es un grupo heterogéneo de enfermedades mecanoampollosas genéticas autosómicas, dominantes o recesivas, caracterizadas por diversos grados de fragilidad de la piel y las mucosas causada por mutaciones que afectan las proteínas estructurales de la piel. Se han descripto cuatro tipos principales de epidermólisis bullosa, según el nivel estructural de división del tejido en la piel: epidermólisis bullosa simple, de la unión, distrófica y de Kindler. La gravedad de la enfermedad está determinada por el nivel de ampollas y el tipo de mutación y es muy variable entre los subtipos. La epidermólisis bullosa simple es autosómica dominante de separación intraepidérmica, con ampollas con trauma leve que curan sin dejar cicatriz y suele presentarse al nacer o en la primera infancia y de curso crónico, pero la formación de ampollas tiende a disminuir con la edad. La de la unión es autosómica recesiva de separación intra-lamina lucida, es la variante más grave, con muerte prematura en la infancia debido a la desnutrición o infecciones, y se caracteriza por ampollas y erosiones generalizadas con tejido de granulación que no cicatriza; asociado con uñas ausentes, dientes displásicos, lesiones orales y estenosis pilórica. La distrófica es autosómica recesiva y dominante de separación de láminas sub-basales y suele comenzar al nacer, con ampollas generalizadas que curan con cicatrices extensas que traen un riesgo de presentar secuelas graves y con muerte en la edad adulta temprana por las complicaciones. Finalmente, la Kindler es autosómica recesiva de separación a nivel de los queratinocitos basales o de lámina sub-basal, con ampollas inducidas por traumatismos leves que pueden disminuir con la edad. El manejo de los pacientes con epidermólisis bullosa es principalmente de apoyo e incluye el cuidado de heridas y la prevención y tratamiento de complicaciones (control del dolor, nutrición, cuidado de lesiones extra-cutáneas, etc.) involucrando a un equipo multidisciplinario de profesionales, donde en la actualidad no existe una terapia dirigida para la epidermólisis bullosa. TECNOLOGÍA: Oleogel-S10 (Filsuvez®) es un gel cicatrizante que contiene extracto seco de la corteza de Betulae (corteza de abedul), también conocido como extracto triterpénico. El gel contiene 90% peso/peso de aceite de girasol y 10% peso/peso de extracto seco de corteza de abedul, de los cuales la mayoría es betulina (72 a 88% peso/peso). Las sustancias marcadoras activas adicionales incluyen ácido betulínico, lupeol, ácido oleanólico y eritrodiol. OBJETIVO: El objetivo del presente informe es evaluar rápidamente los parámetros de eficacia, seguridad, costos y recomendaciones disponibles acerca del empleo de Filsuvez® gel (Oleogel-S10) para el tratamiento de la epidermólisis bullosa. MÉTODOS: Se realizó una búsqueda bibliográfica en las principales bases de datos tales como PUBMED, LILACS, BRISA, COCHRANE, SCIELO, EMBASE, TRIPDATABASE como así también en sociedades científicas, agencias reguladoras, financiadores de salud y agencias de evaluación de tecnologías sanitarias. Se priorizó la inclusión de revisiones sistemáticas, ensayos clínicos controlados aleatorizados, evaluación de tecnología sanitaria y guías de práctica clínica de alta calidad metodológica. En PubMed se utilizó la estrategia de búsqueda que se detalla en el Anexo I. La fecha de búsqueda de información fue hasta el 01 de noviembre de 2022. Para la búsqueda en Pubmed se utilizó la siguiente estrategia de búsqueda: ((Filsuvez[tiab] OR Oleogel-S10[tiab] OR birch bark extract[tiab]) AND (Epidermolysis Bullosa[MeSH] OR Acantholysis Bullosa[tiab])). RECOMENDACIONES: No se hallaron guías de práctica clínica actualizadas en Argentina y en el Mundo que mencionen la tecnología en la indicación evaluada. El Instituto Nacional para la Excelencia en Salud y Atención (NICE su sigla del inglés, National Institute for Health and Care Excellence) de Reino Unido y la Agencia Canadiense de Medicamentos y Tecnologías en Salud (CADTH su sigla del inglés, Canadian Agency for Drugs & Technologies in Health) no han evaluado al tratamiento en la indicación evaluada. CONCLUSIONES: La evidencia que sustenta la aprobación de comercialización de Oleogel-S10 (Filsuvez®) para el tratamiento de heridas de espesor parcial asociadas con epidermólisis bullosa en personas a partir de los 6 meses de edad, se basa en un estudio clínico con resultados aún no publicados con control de pares. Este estudio demostraría que en personas sin complicaciones, el OleogelS10 sumado al cuidado estándar aumentaría la proporción de personas con cierre completo de la herida en personas con epidermólisis bullosa distrófica de herencia recesiva frente a placebo al corto plazo. No se observarían beneficios en personas con epidermólisis bullosa de la unión o con distrófica de herencia dominante, como tampoco para otros desenlaces. Los eventos adversos reportados más comunes fueron las complicaciones de heridas, reacciones en el lugar de aplicación, infecciones de heridas, prurito y reacciones de hipersensibilidad. La agencia regulatoria de los Estados Unidos todavía no ha autorizado su comercialización; mientras que la agencia europea la ha autorizado recientemente, junto con la designación de medicamento huérfano, para el tratamiento de heridas de espesor parcial asociadas con epidermólisis bullosa distrófica y de la unión en personas a partir de los 6 meses de edad. No se hallaron guías de práctica clínica actualizadas en Argentina y en el Mundo que mencionen la tecnología en la indicación evaluada. No se hallaron evaluaciones económicas publicadas, como tampoco precios de adquisición de referencia en el Mundo.

Monitoramento do horizonte tecnológico: Medicamentos para o tratamento da epidermólise bolhosa / Monitoring the technological horizon: Drugs for the treatment of epidermolysis bullosa

CONDIÇÃO CLÍNICA: A Epidermólise Bolhosa (EB) é uma doença congênita, não contagiosa pertencente a um grupo de doenças cutâneas geneticamente transmitidas, cuja principal característica é a formação de bolhas após trauma mínimo espontâneo ou mecânico. Alguns indivíduos podem apresentar deformidades das mãos e nos pés (pseudosindactilia), anemia ferropriva, perdas de unhas e dentes, escaras na córnea, atrasos de desenvolvimento devido à desnutrição e risco de desenvolvimento de câncer nas lesões crônicas. A EB é causada por mutações em pelo menos 20 genes diferentes, sendo os KRT5, KRT14, PLEC e COL17A1 os principais genes citados na literatura. Ademais, sua classificação é complexa, porque mutações nesses mesmos genes podem resultar em fenótipos clínicos distintos. As mutações causam a ausência ou a diminuição da codificação de proteínas estruturais podendo levar a redução da resistência da pele à tração da ferida. TRATAMENTO: O tratamento atual da EB é principalmente preventivo e de suporte, incluindo proteção contra forças mecânicas evitando fricção, tratamento precoce de feridas para prevenir infecções e proteção da ferida com curativos não adesivos adequados para permitir a cicatrização. O Protocolo Clínico e Diretrizes Terapêuticas (PCDT) da EB, publicado em 2021, descreve os principais tratamentos para os pacientes com essa condição. As medidas terapêuticas da EB inclui terapia medicamentosa e não medicam

Development and validation of educational hypermedia for family members and caregivers of people with epidermolysis bullosa.

OBJECTIVES: to develop educational hypermedia to support the care of people with epidermolysis bullosa; and validate its content, functionality, usability, and efficiency. METHODS: methodological study, based on five phases: analysis and planning; modeling; implementation; evaluation; and distribution. Hypermedia was evaluated by expert judges, using the content validity index, index of agreement, and exact binomial distribution test, considering p > 0.05 and 0.80 agreement ratio to estimate the statistical reliability of CVI and IOA. RESULTS: in the validation with the judges, hypermedia presented excellent indices of total content validity (CVIt=0.99) and agreement for functionality, usability, and efficiency (IOA=100%), with p > 0.05 in all evaluated items. CONCLUSIONS: the developed hypermedia was considered adequate, with good screens, descriptions, and animations, presenting itself clearly and objectively to be used by patients with epidermolysis bullosa and their family members/caregivers.