Publications by authors named "S Kivirikko"
Background: Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic testing is now part of the diagnostic workup alongside the clinical, radiological and histopathological data. Nonetheless, access to genetic testing is still limited, and there is significant heterogeneity across the approaches used by the diagnostic laboratories, with direct consequences on test sensitivity and accuracy.
View Article and Find Full Text PDFA novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.
J Eur Acad Dermatol Venereol
February 2024
Article Synopsis
- Hereditary palmoplantar keratodermas (hPPKs) are skin disorders marked by thickening of the skin on palms and soles, linked to genetic mutations in protease inhibitors SERPINA12 and SERPINB7.
- The study utilized whole-exome sequencing to investigate the genetic basis and clinical features of these conditions, identifying a new SERPINA12 variant in European patients.
- Findings suggest that patients with mutations in both genes exhibit similar symptoms, making genetic testing essential for accurate diagnosis since the conditions cannot be differentiated based solely on clinical presentation.
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
J Eur Acad Dermatol Venereol
September 2021
Background: Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found.
Objectives: To identify mutations underlying PPK in a cohort of 64 patients.