Journal
ACTA DERMATO-VENEREOLOGICA
Volume 90, Issue 3, Pages 274-278Publisher
ACTA DERMATO-VENEREOLOGICA
DOI: 10.2340/00015555-0821
Keywords
erythrokeratodermia variabilis; pustule; Chinese
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Funding
- Changjiang Scholars and Innovative Teams in Universities, Ministry of Education, China [IRT0760]
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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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