Investigation of Nagashima‐type palmoplantar keratoderma in China: A cross‐sectional study of 234 patients

Nagashima‐type palmoplantar keratoderma (NPPK) is the most prevalent hereditary palmoplantar keratoderma (PPK) in China, but there is a paucity of epidemiological data on the Chinese population. To explore the clinical and genetic characteristics, evaluate the demographic distribution, and estimate...

Full description

Saved in:
Bibliographic Details
Published in:Journal of dermatology 2023-03, Vol.50 (3), p.375-382
Main Authors: Liu, Juan, Chen, Zhiming, Hu, Linghan, Song, Zhongya, Mo, Ran, Tsang, Lemuel Shui‐Lun, Liu, Yihe, Huang, Xin, Gong, Zhuoqing, Lin, Zhimiao, Yang, Yong
Format: Article
Language:English
Subjects:
China - epidemiology
Cohort Studies
Comorbidity
Cross-Sectional Studies
Eczema
epidemiological
Epidemiology
Gene frequency
genotype
Genotypes
Humans
Keratoderma, Palmoplantar - diagnosis
Keratoderma, Palmoplantar - epidemiology
Keratoderma, Palmoplantar - genetics
Keratoderma, Palmoplantar, Diffuse
Mutation
Nagashima‐type palmoplantar keratoderma
Onychomycosis
Palmoplantar keratoderma
Patients
Pediatrics
phenotype
Phenotypes
Quality of Life
SERPINB7
Serpins - genetics
Tinea pedis
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Nagashima‐type palmoplantar keratoderma (NPPK) is the most prevalent hereditary palmoplantar keratoderma (PPK) in China, but there is a paucity of epidemiological data on the Chinese population. To explore the clinical and genetic characteristics, evaluate the demographic distribution, and estimate the burden of disease of NPPK. A total of 234 Chinese patients with NPPK were enrolled from two medical centers and an online PPK support group. Next‐generation sequencing and Sanger sequencing were performed to screen out and confirm pathogenic mutations in SERPINB7. Clinical features and quality of life (QOL) were evaluated using self‐completed questionnaires. In total, 14 pathogenic mutations were identified in SERPINB7 from the cohort. The top four recurrent mutations were c.796C>T (355, 75.9%), c.522dupT (66, 14.1%), c.650_653delCTGT (24, 5.1%), and c.455G>T (12, 2.6%), accounting for 97.6% of Chinese NPPK patients. Other mutations (11, 2.4%) include c.455‐1G>T, c.336+2T>G, c.635delG and seven novel mutations c.2T>C, c.434delG, c.455‐16A>G, c.656T>C, c.745‐553T>G, c.832C>T, c.1036G>T. The estimated prevalence of NPPK in China was found to be 0.975/10 000 based on Chinese databases. Clinically, there were no apparent genotype–phenotype correlations in NPPK patients. Pediatric patients mainly presented with palmoplantar peeling, while adults presented with scale (p 
ISSN:0385-2407
1346-8138
DOI:10.1111/1346-8138.16621