Impaired growth and anaemia are major extracutaneous complications of epidermolysis bullosa (EB), but data on their development are lacking.To determine the clinical course of growth and anaemia in children with EB and clarify the impact of nutritional compromise, inflammation and genetic factors.Retrospective study of 200 children (157 with recessive dystrophic EB (RDEB), 43 with junctional EB-generalised intermediate (JEB)) followed at the main referral centre in Germany. Growth charts were calculated using the modified LMS-method and were correlated with parameters of anaemia, nutrition, inflammation and with the molecular defect in a linear model.In our cohort of patients with RDEB, weight impairment started at 12-18 months; by the age of 10 years, 50% showed wasting. The predicted median weight at age 20 years was 35.2 kg for men and 40.1 kg for women. In JEB, growth resembled that of healthy children. Anaemia was present from second year of life onwards in RDEB and JEB. Low levels of haemoglobin, iron, vitamin D, zinc and albumin, high levels of CRP and absence of collagen VII correlated significantly with low weight in RDEB. No correlation was observed in JEB.The results highlight that nutritional compromise occurs early in children with RDEB and may, therefore, require interventions in the first year or two of life. This article is protected by copyright. All rights reserved.
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