Nagashima‐type palmoplantar keratoderma and malignant melanoma in Japanese patients

Korekawa, Ayumi; Akasaka, Eijiro; Rokunohe, Daiki; Fukui, Tomohisa; Kaneko, Takahide; Sawamura, Daisuke; Ishikawa, Masato; Yamamoto, Toshiyuki; Nakano, Hajime

doi:10.1111/bjd.17251

Cited by 9 publications

(8 citation statements)

References 7 publications

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“…Nagashima‐type palmoplantar keratoderma patients are known to present with various symptoms and comorbidities 2,3,10 . Data from 172 NPPK patients were collected to explore their phenotypes.…”

Section: Resultsmentioning

confidence: 99%

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

Liu

Chen

et al. 2022

The Journal of Dermatology

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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 < 0.001). The most common comorbidities in NPPK patients were onychomycosis (40.0%), eczema (36.8%), and tinea pedis (30.3%). As for burden of disease, NPPK patients' QOL was decreased by a moderate degree. In this study, pathogenic mutations' allele frequencies in SERPINB7 were updated, and prevalence of NPPK in China was estimated. This large‐scale cohort study provides evidence‐based recommendations for patient management. Identification of new mutations are important for timely diagnosis of NPPK. Palmoplantar peeling in children can be used as a hallmark for early recognition of NPPK.

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Section: Resultsmentioning

confidence: 99%

“…2,3,10 Data from 172 NPPK patients were collected to explore their phenotypes. The majority of eczema cases (90.3%) were moderate and well controlled with topical steroids and moisturizer.…”

mentioning

confidence: 99%

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

Liu

Chen

et al. 2022

The Journal of Dermatology

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“…We reviewed 32 NPPK relevant studies since 2013, totaling 389 cases (Table S1). 1–5,17,19–43 Twenty‐nine pathogenic mutations in SERPINB7 were summarized. Only eight out of 389 NPPK cases with a single heterozygous mutation were identified as patients due to either clear family history or undetermined second mutation.…”

Section: Discussionmentioning

confidence: 99%

SERPINB7 mutation causes Nagashima‐type palmoplantar keratosis and its spatiotemporal expression in zebrafish

Lyu

Zhang

Liu

et al. 2023

Experimental Dermatology

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Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive disorder with the main clinical manifestations of erythema, scales and keratotic plaques. In 2013, Kubo et al. 1 identified the causative gene as SERPINB7 by whole-exome sequencing (WES) in three unrelated Japanese NPPK patients. Currently, NPPK cases are mainly reported in Asian populations. Domestic and foreign studies have confirmed the founder effect of the c.796C>T mutation in NPPK. [2][3][4][5] The prevalence of NPPK based on large samples is estimated as 0.975/10 000 in the Chinese population. 6 SERPINB7 encodes the serine protease inhibitor subfamily B member 7 isoform, expressed explicitly in cells of the stratum corneum and stratum granulosum. 1,7 Although the causative gene of

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“…White spongy skin changes when the affected hands and feet are immersed into the water are frequent. Although the complications of NPPK are commonly less severe, which includes hyperhidrosis and tinea pedis [1], the development of an acral lentiginous melanoma in the long-term follow-up has also been reported [7, 8].…”

Section: Discussionmentioning

confidence: 99%

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7

et al. 2020

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Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in SERPINB7 is reported to underlie the condition. Though many case reports/series have demonstrated various mutations in SERPINB7, the genotype-phenotype correlation in this disorder is still lacking. We herein report two brothers with NPPK. Both patients were found to be compound heterozygous for c.796C>T and c.650_653delCTGT in the SERPINB7 gene. We then summarize the previously reported cases of different mutations in SERPINB7 along with their clinical phenotypes in an attempt to shed some light on this correlation. Further investigations and systematic data collection are still needed to clarify this issue.

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Nagashima‐type palmoplantar keratoderma and malignant melanoma in Japanese patients

Cited by 9 publications

References 7 publications

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

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

SERPINB7 mutation causes Nagashima‐type palmoplantar keratosis and its spatiotemporal expression in zebrafish

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7

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