Publications by authors named "G Vinding"
Article Synopsis
- Palmoplantar keratoderma is a complex skin condition with diverse clinical presentations and genetic factors, making diagnosis challenging and sparking the need for comprehensive genetic testing.
- This study collected data from 142 patients over several years to understand the different types and genetic causes of palmoplantar keratoderma by examining clinical features and performing genetic sequencing.
- Results revealed that a significant proportion (83%) of families had identifiable genetic variants, with the most common variant linked to the AAGAB gene, affecting the majority of participants who presented with a punctate subtype of the condition.
Article Synopsis
- α-Antitrypsin deficiency leads to higher elastase activity and elastin breakdown, potentially contributing to cancer risks.
- A study involving over 29,000 individuals in Denmark shows that those with this deficiency have significantly higher rates of skin cancer, leukemia, and liver cancer compared to those without the deficiency.
- The risk for skin cancer was particularly elevated in individuals with other health issues like chronic obstructive pulmonary disease (COPD) and skin diseases, indicating a compounded risk for certain populations.
Article Synopsis
- Ectodermal dysplasias are rare genetic disorders characterized by features like missing teeth (hypodontia), hair loss (hypotrichosis), and impaired sweating (hypohidrosis), with limited research on their prevalence in the general population.
- This study aimed to create a reliable population-based cohort of ectodermal dysplasia patients in Denmark, assessing prevalence and their characteristics using comprehensive health registry data from 1995 to 2021.
- The research identified 396 patients, establishing a minimum birth prevalence of 14.5 cases per 100,000 live births and confirming that a majority of diagnosed cases were correctly coded in health registries.
Article Synopsis
- The global burden of hidradenitis suppurativa (HS) is poorly understood due to limited and varying prevalence data, which has been affected by different methodologies and diagnostic approaches.
- The Global Hidradenitis Suppurativa Atlas (GHiSA) aims to accurately determine HS prevalence by using a validated questionnaire for screening, followed by physician validation for positive cases, assessing about 10% of negatives for diagnostic accuracy.
- Currently, GHiSA is conducting prevalence studies in 58 countries to create a comprehensive global prevalence estimate through proportional meta-analysis, allowing for direct international comparisons that were not previously feasible.