State Key Department of Dermatology, No.1 Hospital of China Medical University, Shenyang 110001, China.
Acta Derm Venereol. 2010 May;90(3):274-8. doi: 10.2340/00015555-0821.
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.
我们在此报告一个具有可变红斑角化症的中国家系，其中有 30 名受影响的成员。患者具有静止性和迁移性病变的特征性临床特征。一些患者在成年期发病。30 名患者中有 5 名在疾病过程中出现脓疱样病变。先证者的组织学检查显示颗粒细胞空泡化和表皮上层中性粒细胞聚集。电镜检查发现角质形成细胞中线粒体空泡化。未检测到 GJB3 和 GJB4 致病性突变。这些不寻常的表现提示该可变红斑角化症中国家系存在新的表型和遗传相关性。
