Osteoporosis and bone health in pediatric patients with epidermolysis bullosa: A scoping review.

Nutritional compromise, low levels of vitamin D, chronic inflammation, abnormal growth, and physical inactivity affect bone metabolism and compromise long-term bone health in individuals with epidermolysis bullosa (EB). The result is a high risk for osteopenia, osteoporosis, and pathologic fractures, but this important consequence of EB has been the focus of few investigations. Our scoping review found 21 publications that assessed the current understanding and clinical practices for monitoring of osteoporosis and its treatment in EB. Recommendations summarized from 13 of these publications include early nutritional and weight assessments before 2 years of age; bloodwork every 6-12 months starting at birth; Tanner stage assessments every 6 months to detect any pubertal delay; DEXA scans starting at age 6 years with repeated scans every 1-2 years, except in mild cases; and vitamin D supplementation of 80-320 IU daily for children 0-7 years and 720 IU for patients >8 years.

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.

Development of a nutritionally balanced, melt-in-the-mouth chocolate for patients with epidermolysis bullosa.

Epidermolysis bullosa (EB) is a group of inherited blistering disorders that primarily affect the skin and mucous membranes of the digestive tract, which can lead to poor nutritional status. Dietary supplements and nutritional support methods, such as nasogastric tubes and gastrostomy, have been employed to improve the nutritional status of patients with EB; however, few foods are suitable for enjoyable eating with family and friends. Here, we introduce a nutritionally balanced, melt-in-the-mouth chocolate called andew, which was specifically designed for patients with EB. The andew chocolate is nutritionally superior and melts more easily than traditional chocolates, thus it is suitable for patients with EB, who are prone to oral erosions. Patients responded more favorably to the taste and texture of andew than to those of other dietary supplements. Not only does andew provide nutritional benefits, but it also promotes enjoyable eating with family members and friends, which could positively impact patients' mental health.

Birch Bark Extract: A Review in Epidermolysis Bullosa.

Birch bark extract (Filsuvez®; also known as the developmental name Oleogel-S10), a topical gel consisting of 10% dry birch bark extract and 90% sunflower oil, is the first therapy approved in the EU and UK for the treatment of partial thickness wounds associated with dystrophic and junctional epidermolysis bullosa (EB) in patients aged ≥ 6 months old. In the pivotal double-blind, randomized, vehicle-controlled, phase III EASE trial in patients with EB, the primary endpoint was met, in which birch bark extract relative to control gel significantly increased the proportion of patients with first complete target wound closure within 45 days. Moreover, patients treated with birch bark extract demonstrated several other positive findings in improving wound burden and wound-associated symptoms. The clinical benefits of birch bark extract were maintained in the 24-month open-label extension period of the EASE trial. Birch bark extract was generally well tolerated in patients with EB, with the tolerability profile being similar to that of control gel. Current evidence indicates that birch bark extract is an effective, emerging treatment option for patients with dystrophic and junctional EB.

Epidermolysis bullosa (EB) is a rare, heterogenous genetic disorder characterized by extreme skin fragility and trauma-induced blister formation of the skin, mucosa or internal epithelial linings of organs. Due to lack of disease-modifying therapies, the mainstay treatment options for EB remain supportive in nature, such as wound care, skin protection, itch and pain management, infection control and trauma prevention. With various therapies being investigated as a potential treatment option for EB, birch bark extract (Filsuvez^®; also known as the developmental name Oleogel-S10) topical gel has been approved in the EU and UK for the treatment of partial thickness wounds associated with dystrophic and junctional EB in patients aged ≥ 6 months old. Birch bark extract has demonstrated anti-inflammatory, antibacterial, antiviral, antimycotic and wound-healing properties. In patients with EB, birch bark extract relative to control gel significantly accelerated wound healing within 45 days, together with other positive findings in improving wound burden and wound-associated symptoms. The clinical benefits of birch bark extract in improving wound burden were maintained for up to 24 months of continued treatment. Birch bark extract was generally well tolerated in patients with EB, with most adverse events being mild to moderate in severity. Current evidence indicates that birch bark extract is an effective, emerging treatment option for patients with dystrophic and junctional EB.

Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa.

BACKGROUND: Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical practices to manage anemia in the EB population. The objective of this manuscript is to present the first consensus guidelines for the diagnosis and management of anemia in EB. RESULTS: Due to the lack of high-quality evidence, a consensus methodology was followed. An initial survey exploring patient preferences, concerns and symptoms related to anemia was sent to EB patients and their family members. A second survey was distributed to EB experts and focused on screening, diagnosis, monitoring and management of anemia in the different types of EB. Information from these surveys was collated and used by the panel to generate 26 consensus statements. Consensus statements were sent to healthcare providers that care for EB patients through EB-Clinet. Statements that received more than 70% approval (completely agree/agree) were adopted. CONCLUSIONS: The end result was a series of 6 recommendations which include 20 statements that will help guide management of anemia in EB patients. In patients with moderate to severe forms of EB, the minimum desirable level of Hb is 100 g/L. Treatment should be individualized. Dietary measures should be offered as part of management of anemia in all EB patients, oral iron supplementation should be used for mild anemia; while iron infusion is reserved for moderate to severe anemia, if Hb levels of > 80-100 g/L (8-10 g/dL) and symptomatic; and transfusion should be administered if Hb is < 80 g/L (8 g/dL) in adults and < 60 g/L (6 g/dL) in children.

The impact of epidermolysis bullosa on the family and healthcare practitioners: a scoping review.

BACKGROUND: Epidermolysis bullosa (EB) is an inherited genodermatosis that results in mucocutaneous fragility. There is a lack of data on the impact of this disease on parents. There are no studies on the impact on siblings and few on healthcare professionals in dealing with this devastating disease. METHODS: A scoping review was performed using the Arksey and O'Malley and PRISMA-ScR framework. Twenty-seven articles were reviewed, and a data-charting sheet was formulated. RESULTS: Parents make great sacrifices and are resilient in caring for their sick children but are at risk of depression. Siblings play a vital role in caring for their siblings, but their needs may be overlooked because the main focus is on the sibling with EB. Healthcare professionals may suffer burnout and compassion fatigue in caring for patients and their families with EB. CONCLUSION: Comprehensive care of the family and the awareness of the challenges experienced by healthcare professionals is essential to the holistic care of a patient with EB.

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)

Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa.

BACKGROUND: Paediatric patients with recessive dystrophic epidermolysis bullosa (RDEB) are at risk of vitamin D deficiency, owing to lack of sunlight from reduced mobility and having large areas of skin being covered with dressings, and to impaired nutritional intake and status. AIM: To establish an appropriate level of vitamin D supplementation in paediatric patients with RDEB. METHODS: Patients with RDEB attending the EB tertiary multidisciplinary team clinic were enrolled. Serum levels of total 25(OH)D were retrospectively recorded for the study period 2012-2018. Data from clinical records on supplements, bone mineral density (BMD) Z scores, compliance, and use of enteral feeds and/or formula were also recorded. RESULTS: In total, 24 patients met the inclusion criteria: 20 with severe RDEB, 3 with RDEB inversa and 1 with intermediate RDEB. Of the 24 patients, 21 (88%) were advised to take a vitamin D3 supplement in line with Department of Health Guidelines (UK), with the remaining 3 patients receiving sufficient intake from formula or enteral feeds. Thirteen of the 24 (54%) had vitamin D deficiency or insufficiency despite advice to supplement; 9 of these 13 (69%) subsequently started or increased the dosage of vitamin D supplements and levels became sufficient (> 50 nmol/L), while the remaining 4 patients (31%) continued to have persistent insufficient levels due to noncompliance with supplements. Reasons for noncompliance were palatability, cost and forgetting to take the tablets. The dose required to maintain sufficient serum levels increased with age, up to 300% of the reference nutrient intake (RNI). CONCLUSION: All patients with RDEB require a supplement or a formula or enteral/sip feed containing vitamin D to maintain sufficient serum vitamin D. The dose required increases with age and can be up to three times higher than the RNI for the normal population. Compliance may improve using a once-weekly loading dose of vitamin D3. Vitamin D deficiency was not solely causative of a low BMD Z score.

Epidermolysis Bullosa: A case study in Cyprus and the nursing care plan.

PURPOSE: To present a case study with Epidermolysis bullosa (EB) in Cyprus and to determine the nursing care plan, explaining the nursing interventions and showing the importance of nursing care of patients with EB. METHODS: Literature review on EB and semi-structured interviews commenced through a direct discussion with open-ended questions to the research subject as well as to a close relative describing his feelings, experiences, and concerns about the disease. FINDINGS: Thematic analysis approach was used to identify and analyze patterns in the data. Then, data were synthesized using the standardized nursing terminology of NANDA-I and the Nursing Interventions Classification. The accuracy of the diagnoses and the appropriateness of the nursing interventions were supported by the positive health outcomes of the patient. CONCLUSIONS: Nurses should apply evidence-based practice interventions for EB wound care, pain management, nutrition, psychological and social support to these patients. IMPLICATIONS FOR NURSING PRACTICE: Although EB is classified in the category of rare diseases, the presentation of a case study in Cyprus and the nursing care plan contribute further bibliographically to the holistic and at the same time individualized nursing practice.

Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.

Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc (3 mg·kg-1 ·day-1 ) for the AE resulted in rapid amelioration of the skin findings. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics-guided treatment.

Desafios de cuidadores familiares de crianças e adolescentes com Epidermólise Bolhosa / Challenges of family caregivers of children and adolescents with Epidermolysis Bullosa

Objective: to understand the challenges faced by family caregivers of children and adolescents with Epidermolysis Bullosa in the search for assistance in the Health Care Network. Method: exploratory-descriptive study, with a qualitative approach, carried out in an outpatient clinic of a University Hospital in Paraíba that accompanies 11 children/adolescents with EB. Data were collected through semi-structured interviews with five main caregivers and the closure was based on sufficiency criteria. For data analysis, the Thematic Analysis, proposed by Minayo, was followed. Results: the main challenges identified were the difficulty in defining the diagnosis and early initiation of adequate treatment; the onerous financial reality that permeates the deficiency in the supply of inputs and continuity of care; the gaps in the organization of the Health Care Network and the coordination of care by Primary Health Care that culminate in the search for the social support network due to the deficitin resolving issues regarding the rights of the child/adolescent. Final considerations: alert to the development of assistance directed to the family, in addition to the reorganization of health network services aiming at comprehensive care for these individuals through intersectoral action in order to reduce obstacles in carrying out specific care, continuous and individualized.

Objetivo: compreender os desafios enfrentados por cuidadores familiares de crianças e adolescentes com Epidermólise Bolhosa na busca pela assistência na Rede de Atenção à Saúde. Método: estudo exploratório-descritivo, de abordagem qualitativa, realizado em ambulatório de um Hospital Universitário na Paraíba que acompanha 11 crianças/adolescentes com EB. Realizou-se a coleta dos dados por meio de entrevista semiestruturada com cinco cuidadoras principais e o encerramento por critério de suficiência. Para análise dos dados, seguiu-se a Análise Temática, proposta por Minayo. Resultados: os principais desafios identificados foram a dificuldade na definição do diagnóstico e início precoce do tratamento adequado; a realidade financeira onerosa que permeia a deficiência na oferta de insumos e continuidade do cuidado; as lacunas na organização da Rede de Atenção à Saúde e coordenação do cuidado pela Atenção Primária em Saúde que culminam na busca pela rede de apoio social devido ao deficit na resolutividade em relação aos direitos da criança/adolescente. Considerações finais: alerta-se para o desenvolvimento de uma assistência direcionada à família, além da reorganização dos serviços da rede de saúde objetivando a integralidade do cuidado a esses indivíduos por meio da atuação intersetorial a fim de reduzir obstáculos na realização de um cuidado específico, contínuo e individualizado.

Cuidado familiar à criança e ao adolescente com epidermólise bolhosa: uma revisão integrativa da literatura / Cuidado familiar para niños y adolescentes con epidermólisis ampollosa: una revisión integradora de la literatura / Family care with children and adolescents with epidermolysis bullosa: an integrative literature review

Objetivo: analisar como é realizado o cuidado familiar de crianças e adolescentes com Epidermólise Bolhosa. Método: revisão integrativa da literatura, realizada em setembro de 2018 com protocolo pré-definido, em que os critérios de elegibilidade contemplaram oito estudos na amostra final, que responderam à seguinte questão: Como é realizado o cuidado familiar de crianças e adolescentes com Epidermólise Bolhosa? Resultados: o cuidado da família junto a seus filhos com Epidermólise Bolhosa é influenciado pela assistência dos profissionais de saúde, que desconhecem a doença e, portanto, não proporcionam as orientações necessárias, deixando os pais despreparados para cuidar cotidianamente dos seus entes. Conclusão: a literatura científica pouco se aproxima da experiência desse cuidado, no âmbito da família, dedicado aos seus filhos acometidos pela Epidermólise Bolhosa.

Objetivo: analizar la forma en que se realiza el cuidado familiar de los niños y adolescentes con Epidermólisis Ampollosa. Método: revisión integradora de la literatura, celebrada en septiembre de 2018 con protocolo pre-definido, en el que los criterios de elegibilidad incluyeron ocho estudios en la muestra final, que responden a la siguiente pregunta: Cómo se realiza el cuidado familiar de los niños y adolescentes con Epidermólisis Ampollosa? Resultados: el cuidado de la familia, junto a sus hijos con la Epidermólisis Ampollosa, es influenciado por la asistencia de los profesionales de la salud, que no conocen la enfermedad y, por lo tanto, no proporcionan la orientación necesaria, dejando los padres no preparados para el cuidado diario de su ente amado. Conclusión: la literatura científica poco aborda la experiencia del cuidado de la familia, dedicado a sus hijos afectados por la Epidermólisis Ampollosa.

Objective: to analyze how the family care with children and adolescents with Epidermolysis Bullosa is performed. Method: integrative literature review, held in September 2018 with pre-defined protocol, whose eligibility criteria contemplated eight studies in the final sample, which responded to the following question: How is the family care with children and adolescents with Epidermolysis Bullosa performed? Results: the family care along with their children with Epidermolysis Bullosa is influenced by health professionals' assistance, who are unaware of the illness and, therefore, do not provide the necessary guidance, leaving parents unprepared for the daily care with their children. Conclusion: the scientific literature little addresses the experience of care, within the family, dedicated to their children affected by Epidermolysis Bullosa.

Oleogel-S10 Phase 3 study "EASE" for epidermolysis bullosa: study design and rationale.

BACKGROUND: Epidermolysis bullosa (EB) is a group of rare, genetic diseases that affect the integrity of epithelial tissues, most notably the skin. Patients experience recurrent skin wounding, with severity depending on type, sub-type, and mutation. Oleogel-S10, a formulation of birch bark extract, has demonstrated efficacy in a Phase 2 trial assessing re-epithelialization of wounds in EB. EASE (NCT03068780, EudraCT 2016-002066-32) is a randomized, Phase 3, placebo-controlled study designed to determine the efficacy of Oleogel-S10 versus placebo in patients with EB. METHODS: EASE is a Phase 3, two-phase study comprising a 90-day, double-blind, randomized, placebo-controlled phase, followed by 24 months of open-label, single-arm follow-up. Patients with junctional EB, dystrophic EB, or Kindler syndrome and target wounds (10 - 50cm2) present for > 21 days and < 9 months, are randomized in a 1:1 ratio to receive wound dressings according to local standard of care with or without Oleogel-S10. Placebo is based on the Oleogel-S10 vehicle, which is sunflower oil formulated to have a consistency indistinguishable from that of the active product. The primary endpoint of the trial, directed by the US health authority according to the required study endpoints for chronic cutaneous ulcer and burn wounds, is to compare the efficacy of Oleogel-S10 versus placebo according to the proportion of patients with complete closure of the target wound within 45 ± 7 days of treatment. Additional EB-focused endpoints include wound burden, patient-reported outcomes, and safety. RESULTS: Results of the primary endpoint are anticipated to be available by H2 2019. TRIAL REGISTRATION: ClinicalTrials.gov, NCT03068780 . EudraCT, 2016-002066-32. Registered on 3 March 2017.

Combined tetrahydrocannabinol and cannabidiol to treat pain in epidermolysis bullosa: a report of three cases.

Epidermolysis bullosa (EB) is a genetic blistering disorder characterized by intense pain related to disease pathology and care-based interventions. Opioid-based therapies underpin pain care in EB; however, they are unable to provide adequate analgesia in a significant proportion of patients. Cannabinoid-based medicines (CBMs) have been studied increasingly for pain conditions of various aetiologies and pose as a novel dimension for pain care in EB. We present three patients with EB who were prescribed pharmaceutical-grade sublingually administered CBMs comprising tetrahydrocannabinol and cannabidiol. All three patients reported improved pain scores, reduced pruritus and reduction in overall analgesic drug intake.

Nutritional outcomes in children with epidermolysis bullosa: long-term follow-up.

BACKGROUND: some types of epidermolysis bullosa (EB) have extracutaneous manifestations. Manifestations that limit food intake and absorption may compromise nutritional status and increasing nutritional requirements. OBJECTIVES: to investigate the following nutritional status indicators: exclusive breastfeeding duration, problems caused by the introduction of complementary foods, birth weight and length, and growth curves of children with EB. METHODS: assessment was based on the World Health Organization (WHO) growth charts. The anthropometric data were stored in the WHO's programs Anthro and Anthro Plus. RESULTS: three and seven of the ten study children had EB simplex (EBS) and recessive dystrophic EB (RDEB), respectively. Four of the children with RDEB had problems when complementary foods were introduced. The difference between the chronological age and age-for-height at the 25th (A/H 25th) percentile (p) varied from four months to four years and two months. Most children with RDEB (85%) had weight-for-age (W/A) curve below p3 and low height-for-age (H/A), starting before age four years. One child with EBS had excess weight. CONCLUSIONS: anthropometric birth data, exclusive breastfeeding duration, and problems caused by the introduction of complementary foods are useful information for establishing the nutritional profile of children with EB. Supposedly, breastfeeding and no complementary feeding problems were not enough to prevent inadequate nutritional status, observed in the majority of the study children. The original presentation of the growth curves of children with EB may help to determine nutritional involvement and to establish how these children grow. The evaluation of growth curves with WHO as a standard suggests the need to establish growth curves adapted to the most serious type of EB and the need for permanent nutritional monitoring.

Benefícios da laserterapia nas lesões bucais da Epidermólise Bolhosa / Benefits of laser therapy in oral lesions of epidermolysis bullosa

A Epidermólise Bolhosa (EB) é um grupo de dermatoses bolhosas hereditárias que acometem a pele e mucosas. No presente trabalho, uma paciente do sexo feminino, seis anos, que foi diagnosticada ao nascimento como sendo portadora da EB distrófica, apresentou, ao exame clínico, ulcerações e bolhas na língua, mucosa jugal, palato, assoalho bucal, vestíbulos e gengivas, microstomia, anquiloglossia, ausência de vestíbulo bucal e lingual e apinhamento dentário. Toda essa condição oral acarretava à paciente dificuldade e sintomatologia dolorosa na alimentação e na higienização, além de dificultar o trabalho do profissional de Odontologia. O tratamento das lesões intraorais com irradiações por laser em baixa intensidade (comprimento de onda = 660 nm) foi proposto visto suas ações biomoduladora, anti-inflamatória, antiálgica, antiedematosa e cicatrizante. Foram realizadas, semanalmente, aplicações pontuais com dose de 90 J/cm² e potência de 40 mW (área de spot de 0,04 cm2). Após laserterapia, observou-se aumento da abertura de boca, melhora da higienização, da alimentação, com introdução de alimentos mais duros, aumento do conforto nestas tarefas, diminuição do número de bolhas intraorais, quando não havia problemas sistêmicos comprometedores, e realização do tratamento odontológico de forma menos traumática e desconfortável para a paciente (AU).

The Epidermolysis Bullosa (EB) is a group of inherited bullous skin diseases that affect the skin and mucous membranes. In the present work, a 6-year-old female patient who was diagnosed at birth as bearer of dystrophic EB, presented, at clinical examination, ulcers and blisters on the tongue, buccal mucosa, palate, mouth floor, vestibule and gums, microstomia, ankyloglossia, absence of buccal and lingual vestibule, and dental crowding. This oral condition brought to the patient pain symptomatology and difficulty to feed and to do oral hygiene, as well as hindered dental professional work. The treatment of intra-oral lesions with laser irradiation at low intensity (wavelength = 660 nm) was proposed due to its biomodulator, antiinflammatory, analgesic, anti-edematous, and healing effects. Punctual weekly applications of 90 J/cm² and power of 40 MW were made. After laser therapy, there was increase of mouth opening, improved oral hygiene, and better feeding, with the introduction of hard food, increased comfort in these tasks, reduction of intra-oral blisters number, when there was no systemic problems compromising, and dental treatment was performed in a less traumatic and uncomfortable way for the patient (AU).

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

Epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is characterized by blistering and erosions with considerable morbidity and mortality. Mutations in as many as 18 distinct genes expressed at the cutaneous basement membrane zone have been shown to be associated with the blistering phenotype, attesting to the role of the corresponding proteins in providing stable association of the epidermis to the dermis through adhesion at the dermo-epidermal basement membrane zone. Thus, different forms of EB have been highly instructive in providing information on the physiological functions of these proteins as integral components of the supramolecular adhesion complexes. In addition, precise information of the underlying genes and distinct mutations in families with EB has been helpful in subclassification of the disease with prognostic implications, as well as for prenatal testing and preimplantation genetic diagnosis. Furthermore, knowledge of the types of mutations is a prerequisite for application of allele-specific treatment approaches that have been recently developed, including read-through of premature termination codon mutations and chaperone-facilitated intracellular transport of conformationally altered proteins to proper physiologic subcellular location. Collectively, EB serves as a paradigm of heritable skin diseases in which significant progress has been made in identifying the underlying genetic bases and associated aberrant pathways leading from mutations to the phenotype, thus allowing application of precision medicine for this, currently intractable group of diseases.