Ständer Sonja, Stadelmann Antje, Traub Otto, Traupe Heiko, Metze Dieter
Klinik und Poliklinik für Hautkrankheiten, Universitätsklinikum Münster.
J Dtsch Dermatol Ges. 2005 May;3(5):354-8. doi: 10.1111/j.1610-0387.2005.05711.x.
Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis with disturbed epidermal differentiation. Its clinical picture varies from transient, fast moving erythema to persistent brown hyperkeratoses. The gene defect in EKV was recently located on the short arm of chromosome 1 encoding the gap junction protein connexin 31. We report on a 48-year-old patient with sharply circumscribed, scaling erythema on the extremities, buttocks and trunk starting since 30 years of age. Histological investigation showed orthokeratotic hyperkeratosis with focal parakeratosis overlying an acanthotic epidermis. Immunohistochemistry revealed a decreased expression of the gap junction protein connexin 31 as well as increased expression of connexin 43. At the ultrastructural level, widened intercellular spaces in the upper epidermis were present with regular desmosomes, adherens junctions and gap junctions. Epidermal cell proliferation and differentiation are regulated by gap junctions. The mutation in connexin 31 is regarded therefore as causal for the clinical picture of the EKV. The unique upregulation of connexin 43 may occur as a consequence of the Cx31 mutation and temporarily compensate for this defect.
可变型红斑角化病（EKV）是一种罕见的常染色体显性遗传性皮肤病，其表皮分化紊乱。其临床表现从短暂的、迅速移动的红斑到持续性褐色角化过度不等。EKV的基因缺陷最近定位于1号染色体短臂上，该区域编码缝隙连接蛋白连接蛋白31。我们报告了一名48岁患者，自30岁起四肢、臀部和躯干出现边界清晰的鳞屑性红斑。组织学检查显示正角化过度伴局灶性角化不全，其下为棘层肥厚的表皮。免疫组化显示缝隙连接蛋白连接蛋白31表达降低，连接蛋白43表达增加。在超微结构水平上，表皮上部细胞间隙增宽，桥粒、黏着连接和缝隙连接正常。缝隙连接调节表皮细胞的增殖和分化。因此，连接蛋白31的突变被认为是EKV临床表现的病因。连接蛋白43的独特上调可能是Cx31突变的结果，并暂时弥补了这一缺陷。
