Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma.

Br J Dermatol

Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

Published: August 2022

1. We extend the spectrum of SERPINA12 variants in palmoplantar keratodermas. 2. The recurrent variant c.970_971del, mainly prevalent in the East Asia population, was proved to be a founder variant. 3. Considerable SERPINA12-related palmoplantar keratoderma patients could be identified from autosomal recessive, non-mutilating, diffused palmoplantar keratoderma patients. 4. Other serpin family members or their co-effect may participate in the etiologies of underexplored hereditary palmoplantar keratodermas.

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.21064DOI Listing

Publication Analysis

Top Keywords

palmoplantar keratoderma
12
autosomal recessive
8
palmoplantar keratodermas
8
keratoderma patients
8
palmoplantar
5
novel founder
4
founder variants
4
variants serpina12
4
serpina12 chinese
4
chinese patients
4

Similar Publications

Nagashima-type palmoplantar keratosis (NPPK) has been shown to represent a form of autosomal recessive palmoplantar keratosis due to biallelic pathological variants of SERPINB7, which encodes a serine protease inhibitor expressed in the epidermis. Approximately 10 years have elapsed since NPPK was demonstrated to be an independent genetic disease, and the most prevalent palmoplantar keratoderma (PPK) in East Asian countries due to a high prevalence of founder mutations in SERPINB7. Since then, it has become evident that biallelic pathological variants of SERPINA12, which encodes a serine protease inhibitor expressed in the epidermis, can also manifest symptoms analogous to those of NPPK.

View Article and Find Full Text PDF

Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma.

Acta Derm Venereol

January 2025

Infinity, University of Toulouse, CNRS, Inserm, UPS, Toulouse, France; CHU Toulouse, Purpan hospital, laboratory of cell biology and cytology, Federal Institute of Biology, Toulouse, France.

View Article and Find Full Text PDF

Olmsted syndrome is characterized by symmetrically distributed, destructive, inflammatory palmoplantar keratoderma with periorificial keratotic plaques, most commonly due to gain-of-function mutations in the transient receptor potential vanilloid 3 (TRPV3) gene, which involves multiple pathological functions of the skin, such as hyperkeratosis, dermatitis, hair loss, itching, and pain. Recent studies suggest that mutations of located in different structural domains lead to cases of varying severity, suggesting a potential genotype-phenotype correlation resulting from TRPV3 gene mutations. This paper reviews the genetics and pathogenesis of Olmsted syndrome, as well as the potential management and treatment.

View Article and Find Full Text PDF

A real-world pharmacovigilance study of Sorafenib based on the FDA Adverse Event Reporting System.

Front Pharmacol

December 2024

Department of Gastroenterology, Zhongshan Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, China.

Article Synopsis
  • The study aimed to monitor adverse events (AEs) linked to Sorafenib, a drug used for treating liver, kidney, and thyroid cancers, focusing on enhancing patient safety.
  • Reports from the FDA Adverse Event Reporting System (FAERS) from 2004 to 2024 were analyzed, revealing a total of 18,624 patients and 82,857 AEs across 26 organ systems.
  • The findings included both expected AEs, like diarrhea and fatigue, and unexpected ones, such as gait inability and hyperkeratosis, highlighting the need for ongoing monitoring to identify new reactions and improve patient care.
View Article and Find Full Text PDF

Aquagenic syringeal acrokeratoderma (ASA) is a rare dermatological condition characterized by the transient appearance of edematous, white, translucent papules on the palms following water exposure. While the condition is most commonly associated with cystic fibrosis (CF) and predominantly affects young women, this report presents a unique case in a 24-year-old man without a history of cystic fibrosis. The patient reported a 10-month history of painful, pruritic eruptions on the hands following exposure to water.

View Article and Find Full Text PDF

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!