Dilated cardiomyopathy in dystrophic epidermolysis bullosa

被引:35
作者
Sidwell, RU
Yates, R
Atherton, D
机构
[1] Great Ormond St Hosp Children, Dept Paediat Dermatol, London WC1N 3JH, England
[2] Great Ormond St Hosp Children, Dept Paediat Cardiol, London WC1N 3JH, England
关键词
dystrophic epidermolysis bullosa; dilated cardiomyopathy;
D O I
10.1136/adc.83.1.59
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Background-Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children. Methods-In the past seven years we have routinely screened patients with severe DEB who have been under the care of this hospital by yearly clinical review, echocardiography, and quantification of plasma selenium and carnitine concentrations, as deficiency of these micronutrients is known to be associated with the development of DCM. Results-Six of 61 children have developed DCM over the seven year period of this study, four of whom have not been previously reported, and three of whom have since died. We compared the concentrations of selenium and free and total carnitine in the children who developed DCM to concentrations in those with severe DEB who did not. The concentrations of free and total carnitine when first measured were significantly lower in the children with DCM, but the selenium concentrations were not. Conclusions-We now believe that DCM is a not infrequent complication of severe recessive DEB, and may be related in part to carnitine concentrations, though the exact mechanism remains unclear. We therefore recommend that patients with this condition should undergo regular cardiac review including echocardiography.
引用
收藏
页码:59 / 63
页数:5
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[31]   Reduced anchoring fibril formation and collagen VII immunoreactivity in feline dystrophic epidermolysis bullosa [J].
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[32]   Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa [J].
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[33]   Fibroblast-Based Cell Therapy. Strategy for Recessive Dystrophic Epidermolysis Bullosa [J].
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[34]   Gene therapy of dystrophic epidermolysis bullosa by introduction of the type VII collagen gene to keratinocytes [J].
Kon, A ;
Sawamura, D ;
Itai, K ;
Tamai, K ;
Hashimoto, I .
NEW DIRECTIONS FOR CELLULAR AND ORGAN TRANSPLANTATION, 2000, 1210 :45-49
[35]   Case report: Dystrophic Epidermolysis Bullosa: dental management and oral health promotion. [J].
Louloudiadis A.K. ;
Louloudiadis K.A. .
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[36]   From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB) [J].
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Tang, Jean Y. ;
Solis, Daniel C. ;
Siprashvili, Zurab ;
Marinkovich, M. Peter ;
Whitehead, Nedra ;
Schu, Matthew ;
Fang, Fang ;
Erickson, Stephen W. ;
Ritchey, Mary E. ;
Colao, Max ;
Spratt, Kaye ;
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Ahn, Mark J. ;
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[37]   The novel mutation in the COL7A1 gene in the patient with dystrophic forms of epidermolysis bullosa [J].
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[38]   Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study [J].
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Nuhoglu, Cagatay .
JOURNAL OF WOUND CARE, 2018, 27 (11) :768-771
[39]   Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa [J].
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Nakano, Hajime ;
Tamai, Katuto ;
Sawamura, Daisuke ;
Hashimoto, Takashi .
JOURNAL OF DERMATOLOGY, 2011, 38 (05) :489-492
[40]   Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa [J].
Pendaries, V. ;
Gasc, G. ;
Titeux, M. ;
Leroux, C. ;
Vitezica, Z. G. ;
Mejia, J. E. ;
Decha, A. ;
Loiseau, P. ;
Bodemer, C. ;
Prost-Squarcioni, C. ;
Hovnanian, A. .
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