掌跖角化病
医学
角化病
皮肤病科
突变
复合杂合度
杂合子优势
完全缓解
角化过度
内科学
遗传学
基因
等位基因
化疗
生物
作者
Sach Thakker,Mariah Owusu‐Agyei,Rachel Marchalik,Jun Kevin Kang
摘要
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.
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