Nagashima‐type palmoplantar keratoderma: Case series and two novel variants-Reference-Cited by-同舟云学术

Nagashima‐type palmoplantar keratoderma: Case series and two novel variants

Published:2023-01-31 Issue:5 Volume:40 Page:882-885
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Braun Mitchell¹^ORCID,Choate Keith A.²,Mathes Erin F.³

Affiliation:

1. University of California San Francisco School of Medicine San Francisco California USA

2. Department of Dermatology, Genetics, and Pathology, Yale University School of Medicine New Haven Connecticut USA

3. Department of Dermatology University of California San Francisco San Francisco California USA

Abstract

AbstractNagashima‐type palmoplantar keratoderma (PPK) is an autosomal recessive PPK. We report four patients, highlight two new genetic variants, and emphasize the possibility of misdiagnosing the condition. Concomitant atopic dermatitis, specifically, may make correct diagnosis challenging. Clinicians should consider the diagnosis of Nagashima‐type PPK in patients presenting with mild PPK with transgrediens and understand the importance of individualized multimodal treatment regimens.

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15265

Reference15 articles.

1. Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

2. Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation

3. Highly prevalentSERPINB7founder mutation causes pseudodominant inheritance pattern in Nagashima‐type palmoplantar keratosis

4. New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with Nagashima-Type Palmoplantar Keratosis