Nutritional Outcomes in Children with Epidermolysis Bullosa: The Experiences of Two Centers in Korea

Abstract

PurposeEpidermolysis bullosa (EB) is associated with variable risks of extracutaneous manifestations and death. Currently, there is limited information on the clinical course and prognosis of EB in Korea. This study analyzed the nutritional outcomes, clinical morbidity, and mortality of children with EB.Materials and MethodsThirty patients, admitted to Severance Hospital and Gangnam Severance Hospital, from January 2001 to December 2011, were retrospectively enrolled. All patients were diagnosed with EB classified by dermatologists.ResultsAmong the 30 patients, 5 patients were diagnosed with EB simplex, four with junctional EB, and 21 with dystrophic EB. Wound infection occurred in 47% of the patients, and blood culture-proven sepsis was noted in 10% of the patients. Two (9.2%) patients had esophageal stricture and 11 (52.4%) of the dystrophic EB patients received reconstructive surgery due to distal extremity contracture. There were five mortalities caused by sepsis, failure to thrive, and severe metabolic acidosis with dehydration. According to nutrition and growth status, most of the infants (97%) were born as appropriate for gestational age. However, at last follow-up, 56% of the children were below the 3rd percentile in weight, and 50% were below the 3rd percentile in weight for height. Sixty percent of the children had a thrive index below -3.ConclusionPostnatal growth failure is a serious problem in children with EB. Strategies to maximize nutritional support could alleviate growth failure in children with EB, and thus improve clinical outcomes.

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study*

“…Nutritional compromise is regarded as the main factor contributing to underweight in RDEB . We found that hypalbuminaemia, a feature previously reported in EB, correlated significantly with low weight in RDEB. As average protein and energy intake are well below general recommendations in children with RDEB while protein turnover is increased because of constant wound healing, the body is driven into an autocatabolic state .…”

Cell–Cell Junctions Organize Structural and Signaling Networks

“…The mutation is usually a dominant negative missense mutation most frequently in the keratin 14 gene (Coulombe and Lee 2012). The result is a separation in the skin at the dermo-epidermal junction that can lead to infection and dehydration (Kim et al 2014; Garcia Perez 1999). 4) Keratinocytes in which all cytokeratins were deleted had a 60% increase in deformability compared to normal cells (Ramms et al 2013; Seltmann et al 2013).…”

A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa

“…Malnutrition is highly prevalent in EB, with 56% of patients below the 3 rd centile for weight, with a higher incidence in JEB and RDEB [ 28 ], thus the importance of establishing a nutrition-based approach to the disease [ 29 ]. Malnutrition can indeed interfere with the entire hormonal system and, accordingly, the hypothalamo-pituitary-gonadal axis.…”