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A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive
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作者 Bi-Rong Guo Hai-Bin Cai +5 位作者 Wen-Kai Zong cong-sheng li li-Zhong liu Song Qiao Qi-Ming Zhu Ming li 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第1期86-88,共3页
To the Editor:Erythrokeratodermia variabilis (EKV;MIM 133200) is characterized by the coexistence of transient,figurate,erythematous patches,and localized keratotic hyperkeratosis.EKV shows marked phenotypic heterogen... To the Editor:Erythrokeratodermia variabilis (EKV;MIM 133200) is characterized by the coexistence of transient,figurate,erythematous patches,and localized keratotic hyperkeratosis.EKV shows marked phenotypic heterogeneity,even within kindreds bearing the same diseasecausing mutation.[1] The term EKV et progressiva (EKVP) is a severe variant of EKV and has been proposed to encompass the diversity of phenotypes,ranging from limited hyperkeratotic plaques and erythematous patches to severe progressive symmetric erythrokeratodermia which can feature more generalized cutaneous involvement. 展开更多
关键词 ERYTHEMA DERMATITIS Erythrokeratodermia variabilis (EKV MIM 133200) The term EKV ET progressiva (EKVP)
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A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes 被引量:1
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作者 Bi-Rong Guo cong-sheng li +3 位作者 Qi-Ming Zhu Kang Xu Wei Pan Peng Jiang 《Chinese Medical Journal》 SCIE CAS CSCD 2016年第14期1759-1760,共2页
To the Editor: Acne inversa (AI; OM1M: 142690) is a painful chronic follicular disease, characterized by recurrent draining sinuses and abscesses with subsequent scarring and chronic seepage, predominantly in skin... To the Editor: Acne inversa (AI; OM1M: 142690) is a painful chronic follicular disease, characterized by recurrent draining sinuses and abscesses with subsequent scarring and chronic seepage, predominantly in skin folds that carry terminal hairs and apocrine glands. It mainly affects the scalp, neck, the axillae, perineum, and inframammary regions. AI significantly affects patients' quality of life because of the chronic and recurrent nature of symptoms as well as the lack of satisfying treatment options. 展开更多
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