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A Novel Mutation of the ADAR1 Gene in a Chinese Family with Dyschromatosis Symmetrica Hereditaria and Literature Review.
Clin Cosmet Investig Dermatol
November 2024
Department of Dermatology, Jinhua Municipal Central Hospital (Affiliated Jinhua Hospital, Zhejiang University School of Medicine), Jinhua City, Zhejiang Province, People's Republic of China.
Article Synopsis
- - The study focuses on dyschromatosis symmetrica hereditaria (DSH), a rare genetic skin disorder linked to the ADAR1 gene, analyzed in a three-generation Chinese family.
- - Researchers discovered a new mutation in the ADAR1 gene (c.763C>T) affecting multiple family members and reviewed existing literature on Chinese DSH cases to gather more genetic and clinical insights.
- - Limitations noted include a restricted database search and unsatisfactory treatment outcomes, with a call for further research to link gene mutations to clinical symptoms and improve treatment options for DSH.
Two Novel and Two Recurrent Variants of the ADAR1 Gene in Three Chinese Families with Dyschromatosis Symmetrica Hereditaria.
Clin Cosmet Investig Dermatol
October 2024
Department of Dermatology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, Jiangxi, People's Republic of China.
Purpose: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (). This study aimed to identify the causative variants in the gene in three Chinese families with DSH.
View Article and Find Full Text PDFWhole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.
Scand J Immunol
December 2024
Department of Paediatrics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia.
The purpose of this study was to identify new and low-frequency gene variants using whole exome sequencing (WES) in patients with childhood-onset systemic lupus erythematosus (cSLE), that may be involved in the pathogenesis of SLE. We performed WES on selected 17 trios (in some cases including other informative family members) in which the proband presented with severe, atypical clinical features, resistance to conventional therapy, a family pattern of occurrence and/or syndromic characteristics. After performing WES and analysis of gene variants, 17 novel and/or low-frequency variants were identified in 7 patients.
View Article and Find Full Text PDFDermatological Enigma Unveiled: A Rare Case Report on Dowling-Degos Disease.
Int J Appl Basic Med Res
August 2024
Department of Microbiology, AIIMS, Rajkot, Gujarat, India.
Article Synopsis
- * It can resemble other skin disorders but is distinguishable by its unique histopathological features.
- * Diagnosis may require a biopsy, as seen in a case where a 50-year-old female was confirmed to have DDD despite no family history or abnormal lab tests, highlighting the need for awareness of rare skin conditions in medical evaluations.
An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review.
Clin Exp Dermatol
December 2024
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh, India.
Article Synopsis
- * A literature review was conducted to develop a user-friendly diagnostic algorithm to help clinicians identify these disorders and determine appropriate genetic testing.
- * The research included a comprehensive search of databases, resulting in 625 relevant articles that discuss the different diseases and contributed to forming a clear approach for provisional diagnosis based on specific clinical factors.
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