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Fatal cardiomyopathy in dystrophic epidermolysis bullosa
Author(s) -
MELVILLE C.,
ATHERTON D.,
BURCH M.,
COHN A.,
SULLIVAN I.
Publication year - 1996
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.1996.d01-1049.x
Subject(s) - medicine , cardiomyopathy , epidermolysis bullosa , micronutrient , dermatology , pathology , heart failure
Summary Two unrelated children with autosomal recessive dystrophic epidermolysis bullosa (RDEB) developed fatal dilated cardiomyopathy. Both were malnourished and had severe growth problems. We believe that the most likely cause for the cardiomyopathy is a micronutrient deficiency, most probably selenium deficiency, since the serum selenium level was found to be reduced in the case in whom we measured this, and in 14 to 25 other children with dystrophic epidermolysis bullosa. Echocardiographic screening of 18 other patients revealed no evidence of cardiomyopathy. We recommend careful attention to nutrition, with prospective monitoring of vitamins and micronutrients including selenium and carnitine, and regular echocardiographic screening of patients with severe RDEB.