| Familial erythrokeratodermia variabilis with pustular lesions: a new variant? | |
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MedLine Citation:
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PMID: 20526545 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Five out of 30 patients noted episodes of pustule-like lesions during their disease course. Histological examination of the proband showed granular cell vacuolation and upper-epidermal neutrophil aggregates. Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected. These unusual presentations suggested a new phenotypic and genetic correlation in this Chinese pedigree of erythrokeratodermia variabilis. |
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Authors:
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Li Zhang; Wei Huo; Xing-Hua Gao; Lei Ma; Yuhong Xiu; Song Zheng; Yuziao Hong; Hong-Duo Chen |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Acta dermato-venereologica Volume: 90 ISSN: 1651-2057 ISO Abbreviation: Acta Derm. Venereol. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-06-07 Completed Date: 2010-09-07 Revised Date: 2012-01-02 |
Medline Journal Info:
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Nlm Unique ID: 0370310 Medline TA: Acta Derm Venereol Country: Sweden |
Other Details:
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Languages: eng Pagination: 274-8 Citation Subset: IM |
Affiliation:
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State Key Department of Dermatology, No.1 Hospital of China Medical University, Shenyang 110001, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Age of Onset Aged Aged, 80 and over Asian Continental Ancestry Group / genetics Child China Erythrokeratodermia Variabilis / ethnology, genetics*, pathology Female Genetic Predisposition to Disease Humans Humidity / adverse effects Male Middle Aged Pedigree Phenotype Pruritus / genetics, pathology Risk Factors Skin / pathology* Spices / adverse effects Sunlight / adverse effects Young Adult |
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