Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal physiology.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jid.2020.06.031 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
New Gene-based Classification of Ichthyoses and Palmoplantar Keratodermas: Hereditary Epidermal Differentiation Disorders.
J Am Acad Dermatol
September 2025
Division of Dermatology, Tel Aviv Sourasky Medical Center and Department of Human Molecular Genetics & Biochemistry, Tel Aviv University, Tel Aviv, Israel.
SERPINB8-associated peeling skin with palmoplantar keratoderma-A new variant and phenotypic expansion.
J Eur Acad Dermatol Venereol
September 2025
Department of Dermatology and Allergology, ERN-Skin Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Bi-Allelic DSG1 Splice-Site Variant Identified in a Family With Non-Syndromic Striate Palmoplantar Keratoderma.
J Dermatol
August 2025
Institute of Human Genetics, Medical Faculty and University Hospital Bonn, University of Bonn, Bonn, Germany.
Hereditary palmoplantar keratoderma (PPK) involves hyperkeratosis of the palmoplantar skin and belongs to the palmoplantar epidermal differentiation disorders (pEDDs). One causal gene is Desmoglein 1 (DSG1), which encodes a protein crucial for epidermal integrity. Monoallelic DSG1 variants cause mild, non-syndromic PPK, whereas bi-allelic DSG1 variants typically cause syndromic PPK with severe additional clinical features (SAM syndrome).
View Article and Find Full Text PDFAnti-BP230-Type Bullous Pemphigoid With Palmoplantar Keratoderma.
Int J Dermatol
August 2025
Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
A case report of palmoplantar keratoderma in a 3-year-old girl: A structured approach in primary care settings.
Malays Fam Physician
July 2025
MBBS, MRCP, Adv MDerm, Department of Dermatology, Hospital Tengku Ampuan Afzan, Kuantan, Pahang, Malaysia.
Palmoplantar keratoderma (PPK) is a dermatological disorder characterised by excessive thickening of the palms and soles, encompassing more than 20 conditions. The disease is often misdiagnosed in primary care settings, leading to unnecessary treatments and delays. We present the case of a 3-year-old girl with skin thickening on both her palms and soles persisting for 2 years, initially believed to be an acquired condition.
View Article and Find Full Text PDF