We have studied 7 patients that belong to three families diagnosed of varians type palmoplantar keratoderma. This type is characterized by the variety of its clinical manifestations, both personal and familial, as also by the great influence of external factors on its evolution. We point out the stable evolution of the disorder and its resistance to general and topical treatment.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Exploring alternative approaches: A case report on palmoplantar keratoderma treated with unani medicine.
Explore (NY)
March 2025
Department of Amraze Jild wa Tazeeniyat (Dermatology and Cosmetology), National Institute of Unani Medicine, Bangalore, India.
Introduction: Palmoplantar Keratoderma (PPK) is a heterogeneous group of hereditary and acquired cornification disorders defined by hyperkeratosis of the palms and soles, often resulting in significant discomfort and reduced quality of life. The clinical features include well defined yellowish hyperkeratotic plaques on palm and soles. Treatment typically relies on topical keratolytic agents, including salicylic acid, lactic acid, urea and in more severe cases, systemic therapy with oral retinoids may be required.
View Article and Find Full Text PDFAAV-mediated base editing restores cochlear gap junction in GJB2 dominant-negative mutation-associated syndromic hearing loss model.
JCI Insight
March 2025
Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
Mutations in the gap junction β2 (GJB2) gene, which encodes connexin 26, are the leading cause of genetic deafness. These mutations are characterized by the degeneration and fragmentation of gap junctions and gap junction plaques (GJPs) composed of connexin 26. Dominant-negative mutations of GJB2, such as R75W, cause syndromic hearing loss and palmoplantar keratoderma.
View Article and Find Full Text PDFMutation analysis in three Chinese pedigrees with palmoplantar keratoderma caused by SERPINB7 gene mutations.
Indian J Dermatol Venereol Leprol
February 2025
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Arch Dermatol Res
March 2025
Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
Genodermatoses, a group of inherited skin disorders, are characterized by significant genetic heterogeneity and clinical variability, often posing diagnostic and therapeutic challenges. Advances in next-generation sequencing (NGS) technologies, such as whole exome sequencing (WES) and clinical exome sequencing (CES), have transformed the diagnostic landscape by enabling comprehensive genetic analysis. This study aimed to investigate the molecular spectrum and clinical relevance of genetic findings in 43 patients diagnosed with genodermatoses.
View Article and Find Full Text PDFA signal peptide variant in SLURP1 with dominant-negative effect causes progressive symmetric erythrokeratodermia.
J Dermatol Sci
February 2025
Dermatology Hospital, Southern Medical University, Guangzhou, China. Electronic address:
Background: Progressive symmetric erythrokeratodermia (PSEK) is a group of hereditary cornification disorders characterized by symmetrical, progressive erythroderma and hyperkeratosis over the body. Loss-of-function variants in SLURP1, encoding secreted Ly-6/uPAR-related protein 1, is known to cause Mal de Meleda, an autosomal recessive palmoplantar keratoderma.
Objective: To identify the genetic basis and the pathogenesis of a sporadic patient with PSEK.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!