Patients with hereditary syndromes with renal tumors initially may present to the dermatologist. It is essential that dermatologists recognize these syndromes because the early diagnosis of renal cancer may prove to be lifesaving. The 4 hereditary syndromes with cutaneous manifestations are von Hippel-Lindau (VHL) syndrome, Birt-Hogg-Dube (BHD) syndrome, tuberous sclerosis (TS), and hereditary leiomyoma renal cell carcinoma (HLRCC) syndrome. This article reviews these disorders, emphasizing their cutaneous features and renal manifestations.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The Influence of Diet and Obesity in Lynch Syndrome: What Do We Know So Far.
Nutrients
December 2024
Laboratório Associado, Escola Superior de Biotecnologia, Centro de Biotecnologia e Química Fina, Universidade Católica Portuguesa, CBQF, Rua Diogo Botelho 1327, 4169-005 Porto, Portugal.
Of all new cases of colorectal cancer, Lynch syndrome (LS) accounts for approximately 3%. This syndrome is the most common hereditary cancer syndrome and is caused by pathogenic variants in the genes responsible for DNA mismatch repair. Although the relationship between colorectal cancer risk and diet is well established, little is known regarding the influence of diet and nutritional characteristics on LS's clinical evolution.
View Article and Find Full Text PDFA Comparative Study of the Electroneurographic Findings in Amyloidotic Polyneuropathy in Patients with Light-Chain Amyloidosis and Glu54Gln Transthyretin Amyloidosis.
Medicina (Kaunas)
December 2024
Fundeni Clinical Institute, 022328 Bucharest, Romania.
: Amyloidosis is a disorder characterized by the abnormal folding of proteins, forming insoluble fibrils that accumulate in tissues and organs. This accumulation disrupts normal tissue architecture and organ function, often with serious consequences, including death if left untreated. Light-chain amyloidosis (AL) and hereditary transthyretin-type amyloidosis (hATTR) are two of the most common types.
View Article and Find Full Text PDFGynecological Insights into Lynch Syndrome-A Comprehensive Review of Cancer Screening and Prevention.
Medicina (Kaunas)
December 2024
Medicine School, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Lynch syndrome, one of the most common genetic syndromes predisposing to cancer, is associated with a series of malignant conditions, among which the most frequent is colorectal cancer, but gynecologic cancers (especially endometrial) are also quite common. Despite the significant progress made in understanding this condition over time, there are still aspects in managing this condition that have not demonstrated clear benefits. This article aims to summarize the recommendations of international societies and present the latest developments in managing Lynch syndrome, focusing on gynecologic cancer screening and possible prevention strategies.
View Article and Find Full Text PDFMultiple Red Flags of Cardiac Amyloidosis in a Single Patient: Clinical Manifestations of an Underdiagnosed Disease.
Diagnostics (Basel)
December 2024
Department of Invasive Cardiology, Medical University of Białystok, 15-089 Białystok, Poland.
Cardiac transthyretin amyloidosis is an underdiagnosed disorder with significant diagnostic difficulties due to its non-specific clinical manifestations. It is caused by the deposition of protein aggregates with an abnormal tertiary structure in the extracellular matrix. Their accumulation leads to the development of hypertrophic and restrictive cardiomyopathy and, at a later stage, heart failure with preserved ejection fraction syndrome.
View Article and Find Full Text PDFExpanding the Clinical Spectrum of Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.
Genes (Basel)
December 2024
The Hereditary Retinal Dystrophies Unit, Ophthalmology Departments at SJD Barcelona Children's Hospital and University Hospital of Bellvitge, 08950 Barcelona, Spain.
: Biallelic pathogenic variants in the gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby expanding the clinical spectrum. : Whole-exome sequencing (WES) and mRNA analysis were performed to identify and characterize variants in the siblings.
View Article and Find Full Text PDFWant 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!