Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
J Dermatol. 2022 Apr;49(4):463-468. doi: 10.1111/1346-8138.16281. Epub 2022 Jan 11.
Palmoplantar keratoderma Bothnia type (PPKB) is caused by AQP5 pathogenic variants. The mechanisms of this disease and the genotype-phenotype correlation are still not fully understood. We report two pedigrees with PPKB caused by a recurrent variant c.367A>T and a novel variant c.530T>A in the AQP5 gene, respectively. We also summarize the cases with AQP5 variants identified, and found that there seemed to be no significant genotype-phenotype correlation of this disease. Moreover, we noticed that the epidermis of the patient had strong proliferation and immature differentiation potential as well as recognizing the possible important role of TRPV4 in the pathogenesis of PPKB.
波的尼亚型掌跖角化病（PPKB）是由 AQP5 致病变体引起的。这种疾病的发病机制和基因型-表型相关性尚不完全清楚。我们报告了两例分别由 AQP5 基因中的反复变异 c.367A>T 和新变异 c.530T>A 引起的 PPKB 家系。我们还总结了已确定的 AQP5 变异病例，发现该疾病似乎没有明显的基因型-表型相关性。此外，我们注意到患者的表皮具有强烈的增殖和不成熟分化潜能，并认识到 TRPV4 在 PPKB 发病机制中的可能重要作用。
