- A recent cohort study in Denmark examined palmoplantar keratoderma (PPK) cases.
- Genetic causes were identified in 83% of cases, revealing 27 pathogenic or likely pathogenic variants across 13 genes.
- A founder mutation in AAGAB was noted.
- The study highlighted the importance of genetic testing for identifying patients who may need cardiac monitoring.
- Participants were categorized into 4 clinical subtypes: punctate, diffuse, focal, and striate.
- Genetic testing revealed a genetic diagnosis rate of 83% and identified several novel variants.
- The median age of participants was 52 years, with diffuse PPK cases showing the earliest median onset at 5.3 years.
- Most participants had symptoms affecting both palms and soles, with a significant percentage reporting pain or soreness and excessive sweating.
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