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Energy requirement estimate for patients with EB
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Epidermolysis Bullosa is a genetic disorder that affects mainly the skin, however,
all others systems are influenced. The nutritional care of children and adolescents
with Epidermolysis Bullosa is a key treatment strategy, since the energy needs are
increased due to the disease's metabolism, burdening the immune system and
cicatrization process, sy...
Context in source publication
Context 1
... A pro- posal, based on the equation developed for burned patients, is presented to estimate the energy require- ments for children and adolescents suffering from EB, who are at nutritional risk, particularly those with junctional and dystrophic types. This equation consid- ers a number of factors: weight, kilocalories per kilo- gram of body weight according to the current age at the 25 th percentile of standardized growth curves, per- centage of body area affected by blisters, presence of infection and need for catch-up growth (Figure 2). This equation, despite having been released to the sci- entific community in 1995, is still used and cited in recent articles. ...
Citations
... 17,18 En un estudio con 93 niños en Perú, un país con condiciones socioeconómicas similares a las de México, la distribución de las manifestaciones orales fue similar a la nuestra, e incluso tuvieron una mayor frecuencia de caries y de afectación dental en los pacientes con EAU. 14 Encontramos hallazgos diversos en cuanto al estado nutricional, ya que contamos con pacientes con desnutrición grave importante, en especial aquellos con EAD recesiva, y pacientes con obesidad y sobrepeso (un paciente con EAS y uno con EAD dominante, ambos con muy poca afectación multiorgánica). En la literatura se documenta una relación directa entre el deterioro nutricional y la gravedad clínica del paciente, 19 tal como se observó en el estudio realizado en Perú, en el que la obesidad y el sobrepeso se presentaron únicamente en pacientes con EAS, en contraste con los 41 pacientes con desnutrición crónica con EAD. 14 En cuanto al compromiso gastrointestinal, los principales afectados fueron pacientes con EAD, y el estreñimiento fue el principal síntoma digestivo en 15 pacientes (42.8%). Esto es similar a lo reportado en la literatura, en la que esta patología es la más común del tracto gastrointestinal inferior y está presente en el 75% de los pacientes con EAD recesiva. ...
Introducción: La epidermólisis ampollosa (EA) es una ge-nodermatosis causada por mutaciones en proteínas de la unión dermoepidérmica que alteran la cohesión epitelial y generan ampollas y desprendimiento de piel y mucosas. Objetivo: Describir las características demográficas y clíni-cas, así como las principales complicaciones, de los pacien-tes con EA atendidos en el Instituto Nacional de Pediatría, en Ciudad de México. Método: Se realizó un estudio observacional, descriptivo, retrospectivo y transversal en pacientes menores de 18 años con diagnóstico de EA. Se excluyeron los pacientes con expedientes incompletos, depurados o archivados. Resultados: Se incluyeron 35 pacientes, 17 hombres y 18 mujeres, con edad media de 8.94 años (desviación están-dar: 4.9), que se clasificaron como EA distrófica (71.4%), EA simple (17%), EA de unión (2.9%) o síndrome de Kindler (2.9%). Todos los pacientes presentaron manifestaciones en la piel, seguidas por manifestaciones en la mucosa oral (74.3%), nutricionales (54.2%), gastrointestinales (51.4%), he-matológicas (40%), oftalmológicas (37.1%), musculoesquelé-ticas (34.2%) y psicosociales (34.2%). La gravedad fue variable de acuerdo con el subtipo; la EA de unión y la EA distrófica son las que generan mayor afectación y comorbilidad. Abstract Background: Epidermolysis bullosa (EB) is a genodermato-sis caused by mutations in the proteins of the dermal-epider-mal junction, altering the epithelial cohesion, and generating blisters and shedding of skin and mucous membranes.
... The energy requirements in EB range from 100-150% of those estimated for healthy children of the same age 4 . The most frequently associated nutritional deficiencies are vitamin A, D and B6, iron, zinc, selenium and folate. ...
... Reimer et al. suggest that nutritional supplementation should always be administered; Zidorio et al. concluded that it should be recommended based on the patient's dietary intake; and Haynes propose a dose of 150-200% of the normal recommended intake. We recommend that micronutrient supplementation should be administered to all EB patients at the dose proposed by Haynes that ensures intake doesn't exceed tolerable upper intake levels 3,4 . Unfortunately, our patients had suboptimal adherence to the prescription, and only 47% complied with micronutrient supplementation. ...
... Due to this, conclusions cannot be generalized. However, there are very few studies on nutrition in EB worldwide, and this is the first in pediatric patients from a middle-income country 4,11,12 . ...
Epidermolysis bullosa (EB) is a genetic disorder with continuous formation of blisters and erosions in the skin and mu-cous membranes as well as multi-systemic involvement. Patients are at high-risk of malnutrition due to decreased food intake and increased nutrient demand. This cross-sectional retrospective study evaluated the daily caloric intake and nutritional status of pediatric patients with EB at a specialized clinic through anthropometric measurements and estimation of the daily intake by 24-hour dietary recall. We used the Waterlow and World Health Organization (WHO) malnutrition classification schemes. Descriptive statistics were used. We included 17 patients with a mean age of 8.4 years (SD 4.6), 82.3% had malnutrition. Those with more severe subtypes, junctional and recessive dystrophic EB, had acute superimposed on chronic malnutrition (100% and 63.4% respectively), wasting (100% and 72.6%), and stunting (0% and 54.4%) more frequently. Most patients required supplemen-tation (caloric 76.4% and vitamin/mineral 100%). We concluded that there is a high frequency of malnutrition in our EB patients. Although their energy requirements is calculated to be increased in 100-150% of the estimate, our patients only reach 73.1% of that, thus requiring supplementa-tion. Patients with more severe subtypes of EB had chronic malnutrition more frequently. Even though malnutrition is closely linked to wound healing and adequate growth and development of patients, there are few studies about nutrition in EB worldwide. We believe evaluating the nutritional status of these patients is the first step to identifying deficiencies, offering adequate comprehensive medical care and establishing nutritional interventions in a timely manner.
... Ensuring proper nutrition for children and adolescents with Epidermolysis Bullosa is a vital aspect of their treatment plan (7,8). This is crucial because the condition increases their metabolic demands, placing added stress on their immune system and the healing process. ...
... This is crucial because the condition increases their metabolic demands, placing added stress on their immune system and the healing process. Furthermore, the symptoms of the disease can hinder the intake and absorption of essential nutrients, potentially leading to inadequate growth and developmental challenges (7)(8)(9)(10). Furthermore, malnutrition in individuals with EB is often a consequence of a combination of reduced food intake and heightened nutrient requirements. ...
... As a result, nutritional status is greatly impacted by various complications like malnutrition, anemia, infections, dental issues, and ultimately, growth problems. Therefore, nutritional support plays a pivotal role in managing these patients (7). The objective of this study is to demonstrate how nutritional intervention in a specialized nutrition clinic can enhance their well-being. ...
... Also, extracutaneous blistering and narrowing of the esophagus will decrease food intake and further decrease the available nutrient for the highly stressed body. All these factors contribute to the development of malnutrition in EB patients (Zidorio et al., 2015). ...
malnutrition worsens the course of the main disease and requires early diagnosis. We were aiming to identify the prevalence of malnutrition and to elicit the most effective nutritional screening tool for malnutrition in children with epidermolysis bullosa. A cross-sectional study for prevalence and suitable nutritional screening tool for malnutrition of 26 patients of age 2 to 18 years with mean age 8,65±3,86 were carried out. There were 14 females (53.8%) and 12 males (46.2%). Anthropometric data, medical and nutrition history were obtained. The following nutritional screening tools were studied: PYMS, STAMP, STRONGkids, and we calculated the degree of malnutrition with online calculator PediTools, taking into account Z-score of anthropometric indicators. We evaluated the validity of these screening tools by calculating the sensitivity and specificity alongside their accuracy with the 2x2 table using MEDCALC statistical software. According to clinical manifestation, there were 11 (42.3%) children with severe malnutrition, 7 (26.9%) with moderate and 8 (30.8%) without malnutrition. Using different nutritional screening tools we found the following: on STRONGkids, 14 (53.9%) had low risk, 3 (11.5%) - moderate risk, 9 (34.6%) - high risk of malnutrition, sensitivity was 66.67%, specificity - 100%, accuracy – 76.92%. On STAMP we found, with 5 (19.2%) low risk, 7 (26.9%) - moderate risk, 14 (53.9%) - severe risk, sensitivity was 100%, specificity – 62.5%, accuracy – 88.46%. On PYMS, there were 11 (42.3%) with low risk and 8 (30.8%) with moderate risk, 7 (26.9%) with severe risk; sensitivity was 83.33%, specificity - 100 %, accuracy – 88.46%. We did not find a good nutritional tool for screening of malnutrition in patients with epidermolysis bullosa. But PYMS have shown more efficiency in comparison with STRONGkids and STAMP because it includes evaluation of BMI which makes it possible to evaluate whether the body mass is insufficient or normal.
... Destaca-se a pseudossindactilia, decorrente das bolhas repetidas e cicatrizes nas mãos e nos pés, que traz limitações funcionais/ motoras, comuns da EB distrófica recessiva, associada a repercussões mais graves da doença (COHN; TENG, 2016). Há várias implicações sistêmicas, como anemia, desidratação e desnutrição (KRÄMER et al., 2020;PITTA;MAGALHÃES;SILVA, 2016;ZIDORIO et al., 2015). Além disso, a redução da atividade física, menor exposição solar, uso de corticoides e deficit nutricional, comum a esses pacientes, potencialmente afetam saúde óssea (RODARI et al., 2017). ...
... Essas deformidades podem alterar a função muscular e resultar em deficiências dimensionais na maxila e na mandíbula e em alterações nas arcadas dentárias (NAVA; ÁNGELES; DURAN, 2014). Além disso, a presença das lesões dolorosas compromete a alimentação e a higiene intrabucal, gerando os impactos nutricionais e infecciosos (ZIDORIO et al., 2015), tornando importantes a assistência odontológica e os cuidados especiais nesses pacientes (KRÄMER et al., 2020). ...
... Os pacientes com EB distrófica recessiva apresentam uma condição sistêmica que pode levar a alterações e atrasos no seu desenvolvimento e crescimento geral (ZIDORIO et al., 2015). Há o comprometimento do sistema estomatognático à medida que há a interrelação de fatores como desnutrição, anemia, lesões e alterações morfofuncionais em tecidos moles, além de implicações dentárias e esqueléticas. ...
Introdução: a epidermólise bolhosa compreende um grupo de doenças genéticas e raras da pele, onde há uma fragilidade estrutural da pele e das mucosas. A gravidade das manifestações clínicas varia de acordo com o subtipo envolvido, no qual a citada enfermidade distrófica recessiva é a mais severa. Há várias implicações sistêmicas, como a anemia, a desidratação e a desnutrição. O envolvimento bucal acompanha e torna mais severo o comprometimento sistêmico. As alterações em tecidos moles e duros dessa região variam consideravelmente. São relatados atrasos no crescimento e desenvolvimento dentoesquelético. Objetivo: considerando as possíveis alterações de desenvolvimento, este estudo tem o objetivo de mensurar a idade dentária em pacientes com epidermólise bolhosa distrófica recessiva, verificando a acurácia de dois métodos em relação à idade cronológica. Metodologia: foi realizado um estudo descritivo analítico transversal do tipo série de casos, que avaliou a idade dentária de 10 pacientes pelos métodos de Demirjian e Willems. Resultados: não houve divergência significativa entre as idades dentária e cronológica, com superestimação comum aos métodos utilizados. Conclusão: sugere-se que o tempo de maturação dentária pode ser um parâmetro estável frente a fatores adversos ao desenvolvimento, que são comuns a esse grupo. São necessários estudos que avaliem também outras variáveis para melhor compreender a relação da epidermólise bolhosa com o desenvolvimento dentoesquelético.
... Есть данные, что дети с дистрофической формой ВБЭ имеют значительно меньшую массу тела уже при рождении, поскольку задержка роста может начинаться в перинатальном периоде [12]. Тем не менее прием обогащенных питательных смесей, начиная с рождения, позволяет обеспечить удовлетворительную скорость роста детей в первые годы жизни, однако с возрастом и с усугублением тяжести течения ВБЭ проблемы недостаточности питания и задержки роста становятся очевидными [13], что в основном наблюдается при пограничной и дистрофической формах ВБЭ. Так, в зарубежных исследованиях было показано, что при дистрофической форме ВБЭ нутритивный статус снижен у 38,6-57,0 % пациентов [14,15], что согласуется с полученными нами результатами. ...
Congenital epidermolysis bullosa (CEB) is a group of rare genetic diseases of varying severity, which are characterized with the formation of blisters on the skin and/or mucous membranes with minor trauma. In this case, the clinical course of the disease in some cases is aggravated by the development of malnutrition, which further worsens the quality of life of patients.
Aim of the study . To assess the physical development and laboratory findings of nutritional status in children with simple (SCEB) and dystrophic forms of CEB (DCEB).
Methods and materials . The study included children with SCEB and DCEB at the age of 8 months to 18 years old, treated at the National Medical Research Centre of Children's Health (Moscow, Russia) from January 2018 to January 2019. Anthropometric parameters were assessed in all patients, and a biochemical blood test was performed for total calcium, phosphorus, albumin, and magnesium. Data are presented using the median (Me) and quartiles of 25 % and 75 % [Q25; Q75], as well as the mean (M) and 95 % confidence interval (95 % CI) for variables with a normal distribution.
Results . A total of 87 children were included in the study, 70 with DCEB and 17 with SCEB. There were no differences in sex and age between the groups. According to the results of the study, all anthropometric parameters (WAZ, HAZ and BAZ) in children with DCEB were statistically significantly lower (p < 0.001) than in children with SCEB. Although in both forms of CEB the averaged values of WAZ, HAZ and BAZ turned out to be within the normal range, in children with DCEB, a decrease in HAZ less than -2 was noted in 22 children (31%). Moderate protein-energy malnutrition (-3 < BAZ < -2) was detected in 29 patients (41 %), while 20 of them (29%) were diagnosed with severe protein-energy malnutrition (BAZ < -3). Biochemical parameters were within the reference values, however, the levels of albumin and total calcium were statistically significantly reduced in children with DCEB compared with SCEB children (p < 0.001 and p = 0.005, respectively). Hypoalbuminemia was observed in 64 %, and hypocalcemia in 9 % of DCEB children.
Conclusion . All anthropometric values in children with DCEB were lower than in children with SCEB. The study of albumin and total calcium level in the blood of children with DCEB can reveal preclinical forms of malnutrition.
... The above causes can lead to nutritional deficiency, anemia, growth failure, lethargy, failure to thrive, and poor wound healing. [20] Multidisciplinary approach with appropriate protein and caloric replenishments and dietary interventions are necessary in such situations to improve the quality of life. ...
Relation between dietary habits and pediatric dermatoses is well established in literature. Every dermatologist needs to have a thorough evidence-based knowledge of all the skin conditions that are affected by food either directly or indirectly, especially in today's world, where patients are looking for holistic solutions for all their ailments. Nutritional deficiencies, metabolic conditions, dermatitis herpetiformis, and urticaria are well-known entities related to food. Apart from these, a few skin conditions such as atopy, acne, and psoriasis have some correlation to food intake. A thorough knowledge of diet and its effect on dermatological conditions is important where alternative systems lay a lot of stress on the kinds of food that may be consumed in certain skin conditions. Parents should be counseled about the myths related to dietary modifications as this may lead to nutritional deficiencies in children.
... People with EB may present various clinical manifestations that are acute or chronic and of different severities. The most frequent manifestations are blistering, ulcers, skin infections and cancer, pain, itchiness, esophageal stricture, microstomia, ankyloglossia, dysphagia, gastrointestinal wounds, malnutrition, pseudosyndactyly, and scarring leading to skin contracture of the knees and axilla that affects walking and activities of daily living [5][6][7]. All of these clinical manifestations may severely affect quality of life (QoL) [8]. ...
... However, Eismann et al. [16] evaluated the effect of manual ability on QoL, which had a high impact among those with RDEB, limiting the handling of cutlery, probably due to pseudosyndactyly [38]. Many other problems associated with eating and nutritional intake, such as microstomia, dentition, oral blistering, ankyloglossia, esophageal stricture and dysphagia [1,7,38], were not addressed in any of the articles reviewed. Hubbard and Mayre-Chilton [39], using a qualitative approach, reported on how distressing acute episodes of dysphagia can be, which are the result of esophageal stricture exacerbated by further blistering, resulting in an inability to swallow food. ...
Purpose
Individuals with epidermolysis bullosa (EB) present with various clinical manifestations of different severities that affect quality of life (QoL). This systematic review synthesizes the current evidence about the QoL of individuals with EB.Methods
We included observational studies with people of all age groups, both sexes, and any EB type. Studies with qualitative methodology, chapters of books, meeting proceedings, and abstracts were excluded.ResultsIn this study, 12 articles comprising 745 individuals were included. More than half of the articles observed lower QoL in individuals with recessive dystrophic EB (RDEB) or junctional EB (JEB). Three articles indicated that EB affected QoL more in women than in men, and one article identified that children with EB suffered more than adults with the disease. Pain was frequently reported. Seven articles identified difficulty in sports, two identified a need for bathing assistance, and three identified eating difficulties. Additionally, participants reported that family relationships and friendships were affected, and they experienced feelings of anxiety and depression. Some of the instruments used evaluated QoL in general dermatologic conditions, and one was specific to EB.Conclusion
QoL is more affected in people who have RDEB and JEB. Regarding sex and age, women and children need special care in their monitoring. It is necessary that guidelines on pain management be more disseminated and put into practice. Future studies should use standardized specific instruments to assess the QoL in EB individuals, while considering the particularities of the different age groups.
... Он характеризуется множественными пузырями и эрозивно-язвенными дефектами, которые постоянно возникают спонтанно и/ или вследствие травмы и приводят к прогрессирующему рубцеванию и развитию распространенных очагов рубцовой атрофии, псевдосиндактилий, деформации кистей по типу «варежки», контрактур суставов [35]. Тяжелый генерализованный РДБЭ сопровождается отставанием в физическом развитии, анемией, нутритивной недостаточностью, ранним развитием осложнений и ранней смертностью [36][37][38][39]. ...
Congenital epidermolysis bullosa is a clinically and genetically heterogenous group of hereditary skin diseases characterized by the formation of bullae and/or erosions in response to insignificant mechanical effect. The variety and severity of clinical manifestations of the disease determine the early disablement of patients and the decrease in the quality of life, which requires the development of pathogenetic and etiological methods of treatment. Methods of gene therapy are the most promising direction to study, since they can affect the cause of congenital epidermolysis bullosa.
... In burn sufferers, the relationship of the proportion of burned surface area with resting energy expenditure Nutrients 2019, 11, 1257 2 of 10 (REE) and protein catabolism is well known [10][11][12][13]. In the case of people with EB, REE appears to increase proportionally to the body surface area with blister involvement [7], and the supply of dietary energy and protein must be high in order to reduce catabolism and promote growth [4,7,14,15]. ...
... Figure 1 describes the sample process and procedures involved in the study. EB, REE appears to increase proportionally to the body surface area with blister involvement [7], and the supply of dietary energy and protein must be high in order to reduce catabolism and promote growth [4,7,14,15]. Until now, there has been scarce information available about energy expenditure and protein catabolism in EB, with the majority based mainly on clinical practice and the use of predictive equations [4,14,16]. ...
... In a study focusing on subjects with burns [23], the comparison of values measured by indirect calorimetry and predictive equations, as reported by Schofield [25], Harris and Benedict [30], and Food and Agriculture Organization/World Health Organization [31], revealed that in both sexes and in all age ranges, the values resulting from the three equations were lower than the measured ones. Focusing from this same perspective, the experts reported that patients with the most severe types of EB present an increased energy expenditure according to their clinical conditions, on the basis of their clinical practice [14,15,32,33]. Lechner-Gruskay et al. [7] evaluated the REE by indirect calorimetry in two children with RDEB and one with JEB. ...
Epidermolysis bullosa (EB) is a group of conditions characterized by severe fragility of the skin that causes recurring blistering. The recessive dystrophic subtype of EB (RDEB) has a strong impact on the nutritional status. We evaluated the resting energy expenditure (REE) and presence of protein catabolism in patients with RDEB. REE was assessed in 10 subjects (7 females; age range 4–33 years) by indirect calorimetry and using a predictive equation. Nitrogen balance was calculated by protein intake and 24 h urinary urea excretion estimations. An assessment of body surface area (BSA) with infected and non-infected skin lesions was applied to the nitrogen balance burn equation that was adapted to EB. The REE values predicted by the equation were consistently lower than the ones measured, except for two subjects. All subjects recorded high protein and energy intake, with protein intake being higher than 4 g protein/kg/day for five subjects. Even so, protein catabolism was observed in six subjects, three of whom had infected wounds. This study raises the hypothesis that the clinical and nutritional risks of people with RDEB are associated with an increased REE and negative nitrogen balance, which reinforces the importance of nutritional support.
