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作 者:Aichata Keita Bory Traoré Adama Dembélé Rokiatou Diarra Mariam Diarra Elmouloud M. Cissé Mariam Kané Bakary Coulibaly Hawa Konaré Aichata Keita;Bory Traoré;Adama Dembélé;Rokiatou Diarra;Mariam Diarra;Elmouloud M. Cissé;Mariam Kané;Bakary Coulibaly;Hawa Konaré(Reference Health Center of the Commune VI, Bamako, Mali;Department of Paediatrics CHU Gabriel Touré, Bamako, Mali;Bamako Dermatology Hospital, Bamako, Mali)
机构地区:[1]Reference Health Center of the Commune VI, Bamako, Mali [2]Department of Paediatrics CHU Gabriel Touré, Bamako, Mali [3]Bamako Dermatology Hospital, Bamako, Mali
出 处:《Open Journal of Pediatrics》2023年第6期831-837,共7页儿科学期刊(英文)
摘 要:Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder characterised by periorificial dermatitis, alopecia and diarrhoea. It is caused by a mutation in the gene that codes for a membrane protein that binds zinc. We report a case in a 7-month-old girl, admitted with altered general condition and scaly, pustular erythematous lesions, initially located in the occipital and cervical regions, and secondarily inguinal and on the knees. Management and outcome in this patient? Genetic assay was not available to confirm this rare genetic disease. A delay in establishing the diagnosis and a disastrous outcome did not save the patient despite the administration of zinc.Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder characterised by periorificial dermatitis, alopecia and diarrhoea. It is caused by a mutation in the gene that codes for a membrane protein that binds zinc. We report a case in a 7-month-old girl, admitted with altered general condition and scaly, pustular erythematous lesions, initially located in the occipital and cervical regions, and secondarily inguinal and on the knees. Management and outcome in this patient? Genetic assay was not available to confirm this rare genetic disease. A delay in establishing the diagnosis and a disastrous outcome did not save the patient despite the administration of zinc.
关 键 词:Enteropathica Acrodermatitis Necrotizing Fasciitis INFANT
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