Publications by authors named "L Weibel"
Introduction: Netherton syndrome (NS; OMIM#256500) is a rare and severe disorder of epidermal maturation and keratinization caused by pathogenic variants in the serine protease inhibitor Kazal type 5 (SPINK5), leading to severe skin barrier impairment. Although effective treatment is crucial for NS patients, there is a lack of knowledge on what the best treatment options are for these patients. Large heterogeneity in reported outcomes and measurement instruments hinders accurate comparison of treatment results across studies and the development of a treatment guideline.
View Article and Find Full Text PDFBackground: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209.
View Article and Find Full Text PDFArticle Synopsis
- Voriconazole (VOR), an anti-fungal drug, can cause phototoxicity and skin cancer by impairing the DNA repair process known as nucleotide excision repair (NER).
- VOR affects NER not by changing the expression of related genes but by binding to heterochromatin, disrupting the acetylation of histone H3, which is necessary for effective DNA repair.
- Using histone deacetylase inhibitors to restore H3 acetylation can reverse the NER inhibition caused by VOR, suggesting a potential therapeutic strategy to prevent its harmful effects.
Precision diagnostics in paediatric dermatology: Advancing management of tinea capitis through dermatophyte PCR.
J Eur Acad Dermatol Venereol
February 2025
Article Synopsis
- Tinea capitis (TC) is a common fungal infection in children that requires several weeks of treatment, and traditional diagnosis methods like microscopy and fungal culture have limitations.
- A study with 17 children showed that dermatophyte polymerase chain reaction (PCR) had a 100% sensitivity for initial diagnosis compared to only 60% for microscopy and 87% for culture, indicating PCR's effectiveness in diagnosing TC.
- While PCR is great for initial diagnosis, its reliability decreases during treatment, so fungal culture remains the best method for tracking treatment success in TC cases.