Publications by authors named "K Hannula-Jouppi"
Background: Congenital ichthyoses (CI) comprise a heterogeneous group of genetic diseases requiring lifelong treatment and having a major effect on quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in CI raised the possibility of repurposing available biologics.
View Article and Find Full Text PDFAn exploratory randomized clinical trial on negative pressure wound therapy for lower limb full-thickness skin grafts of dermatosurgical patients.
Int Wound J
June 2024
Full-thickness skin graft (FTSG) reconstructions of lower limbs are especially prone to wound complications. Negative pressure wound therapy (NPWT) enhances wound healing, but no broad evidence exists if it promotes graft take of lower leg FTSGs. In this investigator-initiated, prospective, randomised and controlled trial, 20 patients with ambulatory FTSG reconstruction for lower limb skin cancers were randomised for postoperative treatment with either NPWT, or conventional dressings.
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.
Background: Pathogenic variants in associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, curly or wavy hair, and palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated with cardiomyopathy might be confused in clinical work with myocarditis of other etiologies such as viral. Cardiac magnetic resonance imaging (CMR) may help in differential diagnosis.
View Article and Find Full Text PDFArticle Synopsis
- The primary molecular cause involves hypomethylation in the 11p15.5 region, but 40% of cases have an unknown cause.
- A new pathogenic variant related to the IGF2 gene has been discovered in a 16-year-old SRS patient, indicating that targeted exome sequencing is effective for diagnosing patients who don't show results from standard tests.