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.

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.

Epidermólisis bullosa en el perú: estudio clínico y epidemiológico de pacientes atendidos en un hospital pediátrico de referencia nacional, 1993-2015 / Epidermolysis bullosa in peru: clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015

RESUMEN Objetivos Describir las características clínicas y epidemiológicas de los pacientes diagnosticados con epidermólisis bullosa (EB), en el Instituto Nacional de Salud del Niño (INSN) en Lima, Perú; centro de referencia nacional para esta enfermedad. Material y métodos Estudio observacional, descriptivo y transversal. Se revisaron las historias clínicas y exámenes de laboratorio de los pacientes diagnosticados de EB atendidos en el INSN desde 1993 al 2015. Resultados Fueron registrados 93 pacientes. La edad promedio fue de 7,9 ± 5,6 años; el 53,8% (n=50) fueron hombres. Las formas clínicas correspondieron a EB distrófica con 41 (44,1%) casos, EB simple con 39 (41,9%) casos, EB de la unión con 8 (8,6%) y al síndrome de Kindler con 4 (4,3%) casos. No se pudo identificar la forma clínica en un caso. Procedían de Lima y Callao 48 casos (51,6%) y 45 casos (48,4%) de otras provincias del país. Entre las manifestaciones extracutáneas se registraron compromiso gastrointestinal (44,1%), ocular (37,6%), odontogénico (87,1%), nutricional (79,6%), además de pseudosindactilia (16,1%). Se halló desnutrición crónica (71,6%), desnutrición aguda (17,6%) y anemia en (62,4%). La mortalidad correspondió a 6 casos (6,5%). Conclusiones Se reportan 93 casos de EB en el INSN, la presentación clínica predominante fue la forma distrófica.

ABSTRACT Objectives To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease. Materials and methods Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. Results 93 patients were registered. The average age was 7.9 ± 5.6 years; 53.8% (n = 50) were boys. Clinical forms corresponded to dystrophic EB with 41 (44.1%) cases, simple EB with 39 (41.9%), union EB cases with 8 (8.6%) and Kindler syndrome with 4 (4.3%) cases. The clinical form could not be identified in a case. A total of 48 cases (51.6%) came from Lima and Callao, and 45 cases (48.4%) from other provinces of the country. Extracutaneous manifestations involved gastrointestinal (44.1%), ocular (37.6%), odontogenic (87.1%), and nutritional (79.6%) involvement, as well as pseudosindactilia (16.1%). Chronic malnutrition (71.6%), acute malnutrition (17.6%) and anemia (62.4%) were found. Mortality corresponded to 6 cases (6.5%). Conclusions 93 cases of EB were reported in INSN, the predominant clinical presentation was the dystrophic form.

Epidermólisis bullosa: piel de mariposa. A propósito de un caso / Epidermolysis bullosa: butterfly skin. Apropos of a case

La epidermólisis bullosa comprende un grupo heterogéneo de enfermedades ampollosas de la piel y las mucosas, son de origen congénito y hereditario. Hacer el diagnóstico no es difícil si se tiene experiencia dermatológica, pero su clasificación es compleja y para ello se necesita considerar la clínica, la genética, la microscopia y la evaluación de laboratorio. El tratamiento de esta enfermedad es también dificultoso y son necesarias ciertas medidas, para proteger al paciente, evitar la aparición de lesiones y las complicaciones derivadas de ellas. Se describe el tratamiento de estas lesiones en un recién nacido, al que se administraron antibióticos profilácticos y se colocaron vendajes en las lesiones. Se describieron todos los cuidados y recomendaciones para evitar, especialmente los roces y las presiones en estas lesiones, así como las temperaturas altas. Para la confección del presente trabajo se consultaron 18 materiales entre revistas y libros de Pediatría. El caso reportado fue un recién nacido con epidermólisis bullosa atendido en el Hospital Universitario "Dr. Mario Muñoz Monroy" de Colón, Matanzas. Se demostró lo poco frecuente y raro de esta patología para los especialistas del tema (AU).

The epidermolysis bullosa includes a heterogeneous group of bullous skin and mucous diseases of congenital and hereditary origin. Diagnosing them is not difficult if the specialist has dermatologic experience, but their classification is complex and it is necessary to take into account the clinical, genetic and microscopic factors, and the laboratory assessment. The treatment of this disease is also difficult and it is necessary to take certain measures to protect the patient, avoid the onset of lesions and the complications derived from them. The treatment of these lesions in a newborn is described. Prophylactic antibiotics were administered and bandages were put on the lesions. All the cares and recommendations to avoid rubbings and pressures on these lesions, and also the high temperatures, are described. To develop the current term, 18 materials (journals and pediatric books) were consulted. The reported case was the case of a newborn with epidermolysis bullosa attended in the University Hospital "Dr. Mario Muñoz Monroy" of Colon, Matanzas. It was demonstrated the low frequency and rarity of this pathology for the specialists of the theme (AU).

Epidermolysis bullosa pruriginosa: A case with a novel mutation and co-existent lichen amyloidosus.

Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67‑1G>T probably led to in‑frame skipping of exon 68 (36‑basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.

Manifestaciones oftalmológicas de la epidermólisis bullosa / Ophthalmological manifestations of epidermolysis bulosa

La epidermólisis bullosa es una genodermatosis, que comprende un grupo heterogéneo de enfermedades ampollares de la piel y las mucosas, localizadas en la membrana basal epidérmica y la capa basal del epitelio estratificado queratinizado o mucoso, con la consiguiente fragilidad de la piel y severidad variable en su presentación clínica. Con el objetivo de describir y mostrar los hallazgos oftalmológicos más comunes de esta afección, presentamos un caso cuyos síntomas iniciaron a los dos meses de edad con presencia de vesículas y ampollas localizadas en la región frontal, nasal, mejillas y caras laterales del cuello de la frente y las extremidades superiores e inferiores. Las manifestaciones oftalmológicas comenzaron a los seis meses de edad en ambos ojos con leucoma corneal cicatrizal total, simblefaron en 360º, que alcanzó región perilímbica. Todo lo anterior afectó su desarrollo visual y por consiguiente su desarrollo psicomotor. Esta afección requiere tratamiento multidisciplinario con especial atención a la superficie ocular externa para prevenir alteraciones que afecten la visión.

Epidermolysis bulosa is defined as genodermatosis involving a heterogenous group of blistering diseases in the skin and the mucosas, located in the epidermal basal membrane and the basal layer of the stratified, keratinized or mucosal epithelium, with resulting fragility of the skin and variable severity in its clinical presentation. The most common eye findings of this disease were described and shown. The treatment of epidermolysis bulosa should be multidisciplinary, paying special attention to the outer ocular surface to prevent alterations that may affect the vision.

Kindler's syndrome: a report of five cases in a family

Kindler's Syndrome [KS] is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene [also known as KIND-1 gene] that encodes the protein Kindlin-1 [kindlerin]. Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. The differential diagnosis of Kindler syndrome include other congenital poikilodermatous and photosensitive conditions including Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. We herein, report the presence of the Kindler's syndrome in 5 out of 7 children of consanguineous parents. To authors' knowledge, this is the first report of Kindler's syndrome involving 5 members of a family

Epidermolysis bullosa pruriginosa: A rare presentation with asymptomatic lesions.

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

Manifestações clínicas da epidermólise bolhosa: revisão de literatura / Clinical manifestations of epidermolysis bullosa: a literature review

Introdução: A epidermólise bolhosa é uma dermatose hereditária rara, caracterizada pelo desenvolvimento de bolhas na região cutâneo-mucosa de todo o corpo, em resposta ao trauma mínimo, ao calor ou a nenhuma causa aparente, podendo manifestar-se ao nascimento ou durante os primeiros anos de vida. Sua classificação é determinada pela modalidade de herança genética, distribuição anatômica das lesões e morbidez associada à doença, distinguindo-se em três grupos principais: epidermólise bolhosa simples, juncional e distrófica, que englobam mais de 30 entidades distintas. O desenvolvimento de bolhas em pele e mucosas e as deformidades decorrentes de tais lesões interferem sobremaneira na atenção à saúde bucal, assim, é importante que o cirurgião dentista conheça a epidermólise bolhosa e esteja preparado para assistir o paciente portador dela. Objetivo: Foi realizada ampla revisão da literatura acerca da epidermólise bolhosa, enfatizando suas manifestações clínicas e os principais aspectos que interferem com a saúde bucal dos pacientes acometidos por essa condição e com sua assistência odontológica. O objetivo foi subsidiar o profissional de saúde, possibilitando que o mesmo preste a adequada assistência ao paciente, contribuindo para a melhora de sua saúde bucal e consequentemente de sua qualidade de vida. Conclusão: As alterações primárias e secundárias da epidermólise bolhosa tornam um verdadeiro desafio para o cirurgião-dentista à condução do tratamento odontológico para o paciente com esta rara dermatose. Antes de iniciar o tratamento, é fundamental entrar em contato com a equipe de saúde responsável pelo acompanhamento clínico do paciente. Apesar de o tratamento odontológico reabilitador ser possível, sua condução é bastante desgastante, envolvendo riscos para o paciente. Assim, a promoção da saúde e a prevenção das doenças bucais devem ser enfatizadas e iniciadas o mais precocemente possível.

Introduction: Epidermolysis bullosa is a rare inherited skin condition characterized by the development of blisters on mucocutaneous regions of the body in response to minor traumas, heat or no apparent cause. It may manifest at birth or during the first years of life. Its classification is determined by genetics, anatomical distribution of the lesions and associated morbidity. It is divided into three main groups: epidermolysis bullosa simplex, junctional and dystrophic, covering over 30 different entities. The development of blisters in the skin and mucous membranes, and the deformities resulting from such lesions interfere excessively in the oral health, thus it is important for the dentist to know epidermolysis bullosa and to be prepared to assist patients with this condition. Objective: A comprehensive review of the literature on epidermolysis bullosa was conducted, emphasizing its clinical manifestations and the key issues that interfere with the oral health of patients suffering from the condition and with their dental care. The aim was to aid the health professionals, enabling them to provide adequate patient care, contributing to the improvement of their oral health and consequently their quality of life. Conclusion: The primary and secondary damages of epidermolysis bullosa become a real challenge for the dentist to conduct dental treatment for patients with this rare dermatosis. Before starting the treatment, it is essential to contact the health care team responsible for monitoring the patient's condition. A rehabilitating dental treatment is possible, but its conduction is very stressful, involving risks to the patient. Thus, health promotion and prevention of oral diseases should be emphasized and initiated as early as possible.

Imunomapeamento nas epidermólises bolhosas hereditárias / Immunological mapping in hereditary epidermolysis bullosa

O imunomapeamento, uma técnica de imunofluorescência, é o método atual mais utilizado para o diagnóstico laboratorial e a diferenciação dos principais tipos de epidermólise bolhosa hereditária, uma vez que determina o plano de clivagem na junção dermo-epidérmica das doenças mecano-bolhosas.

Immunological mapping, an immunofluorescence technique, is currently the method most used to diagnose and differentiate the principal types of hereditary epidermolysis bullosa, since this technique is capable of determining the level of cleavage of this mechanobullous disease.

Laserterapia na epidermólise bolhosa: revisão daliteratura e relato de caso / Lasertherapy in epidermolysis bullosa: review of literature and case report

Os autores apresentam um caso clínico de Epidermólise Bolhosa (EB), atendido na clínica da disciplinade Odontologia para Pacientes Especiais do curso de Odontologia da Universidade Cruzeiro do Sul(Unicsul-São Paulo), com lesões na cavidade oral, tratadas com laser de baixa intensidade. Há poucoscasos relatados na literatura de lesões de EB na cavidade oral, e a forma de manejo desses pacientespelo cirurgião-dentista. O artigo discute também aspectos relacionados à sua definição, ao diagnóstico,à etiologia e ao tratamento dessa alteração, indicando a laserterapia como alternativa no tratamentosintomático das EB.

The authors present a case of epidermolysis bullosa (EB), attended the clinic of the discipline ofdentistry for special patients the course of Dentistry, University Cruzeiro do Sul (Unicsul-Sao Paulo),with lesions in the oral cavity treated with low-level laser intensity. There are few cases reported in theliterature of EB lesions in the oral cavity, and how to manage these patients by dentists. The article alsodiscusses issues related to its definition, diagnosis, etiology and treatment of this amendment, indicatingthe laser therapy as an alternative in the symptomatic treatment of EB.

Importancia del tratamiento odontológico preventivo en niños con epidermólisis ampollar: presentación de un caso clínico / Importance of preventive dental treatment in children with epidermolysis bullosa: presentation of a clinical case

Es un grupo de enfermedades hereditarias en las que se desarrollan ampollas en la piel, como respuesta a un trauma menor. Se presenta un paciente de 5 años de edad con diagnóstico de epidermólisis ampollar, sin antecedentes familiares de la enfermedad. Se describen signos y síntomas para el diagnóstico de la enfermedad, complicaciones, tratamiento médico y se desarrollan las normas a tener en cuenta durante el tratamiento odontológico del paciente con esta patología.

Carmi syndrome complicated by pharyngo-esophageal perforation.

We describe a neonate having congenital pyloric atresia (CPA) associated with epidermolysis bullosa (EB), also known as Carmi syndrome. The case is unusual as it was complicated with pharyngo-esophageal perforation (PEP) and a definite family history of EB in pervious generations could be recorded.

Epidermolysis bullosa pruriginosa--report of three cases.

Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, is characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions, appearing at birth or later. Scarring and prurigo are most prominent on the shins. Treatment is unsatisfactory. We report three such cases: two of them first cousins, are described with history of blisters since childhood, followed by intensely pruritic lesions predominantly on the shins, and dystrophy of toenails, but no albopapuloid lesions or milia. Intact blisters were present in one case, and excoriations were seen in the other two. All of them showed encouraging response to cryotherapy.

Considerações no atendimento ao paciente infantil portador de epidermólise bolhosa / Considerations in the management to the pediatric patient carrier bullosa epidermolysis

A epidermólise bolhosa representa um grupo de desordens dermatológicas, caracterizadas pela fragilidade da pele e mucosas na formação de bolhas e vesículas, que ulceram e restringem a qualidade de vida destes pacientes. O envolvimento da cavidade bucal é, dependendo do subtipo, manifestado por bolhas e úlceras na mucosa bucal, língua e palato e, por anomalias na formação dentária. A sintomatologia das úlceras dificulta a higiene bucal, favorecendo o acúmulo do biofilme dentário, presença de doenças periodontais e evolução das lesões cariosas, bem como a alimentação prejudicada, favorecendo a desnutrição. As dificuldades no atendimento e no tratamento odontológico do paciente portador de epidermólise bolhosa são conhecidas. O cirurgião-dentista ou o odontopediatra desempenha um papel fundamental na qualidade de vida destes pacientes. O propósito deste trabalho foi o de discutir as condutas inerentes ao atendimento odontológico, principalmente no paciente infantil

Epidermólisis bulosa: a propósito de un caso clínico / Epidermolysis bullosa: a clinical case

La epidermolisis bulosa corresponde a un grupo de desórdenes hereditarios que se manifiestan por la aparición de ampollas en forma espontánea o después de pequeños traumatismos generalmente bien tolerados. Estas ampollas se originan a partir de alteraciones en las distintas estructuras que constituyen la membrana basal y según el nivel de la formación de la ampolla se dividen en epidermolisis bulosa simple, juncional y distrófica. Las complicaciones derivadas de estas lesiones son múltiples y afectan a distintos órganos dificultando el manejo.El tratamiento se basa en una tríada clave: el manejo de las heridas, el control de las infecciones y el apoyo nutricional. Se presenta un caso clínico y se hace una revisión bibliográfica del tema

Necrólisis epidérmica tóxica: terapia en UCI con inmunoglobulinas intravenosas en un caso / Toxic epidermal necrolysis: report of 1 case treated with intravenous immunoglobulins

We report a 27 years old homosexual male with AIDS that was admitted to the ICU dehydrated, with fever and severe malaise. He had irregular bullae, an extensive purpuric exanthema and a zone of epidermic detachment in the right arm. A toxic epidermal necrolysis was diagnosed and therapy with i.v. immunoglobulins was started. After four days of treatment, bullous lesions disappeared and the extension of exanthema decreased. Toxic epidermal necrolysis is a potentially fatal disease and the use of intravenous immunoglobulins for this condition has been reported as successful

Pyloric atresia with epidermolysis bullosa

Pyloric atresia is an extremely rare variety of gastrointestinal atresias. The association of epidermolysis bullosa with pyloric atresia is even rarer. Herein we report a seven-day-old female baby who presented with persistent non-bilious aspirate with bullous eruption on skin. On exploration, pyloric atresia was found and gastroduodenostomy was performed. Patient could not survive in postoperative period