Abstract:
Nagashima-type palmoplantar keratoderma (NPPK) is an autosomal recessive form of diffuse palmoplantar keratoderma (PPK) characterized by thickening and redness of palms and/or soles. In this report, we describe a female patient of Korean descent who had clinical remission of her adult-onset NPPK. To our knowledge, she is the first reported heterozygous SERBINB7 mutation carrier to present with classic NPPK who achieved spontaneous clinical remission.
摘要:
Nagashima型掌底角化病(NPPK)是弥漫性掌底角化病(PPK)的常染色体隐性形式,其特征是手掌和/或脚底增厚和发红。在这份报告中,我们描述了一名韩国裔女性患者,她的成年发病NPPK临床缓解.据我们所知,她是第一个报道的杂合子SERBINB7突变携带者,出现经典NPPK并实现了自发临床缓解.