Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

Mutations in genes keratin 5 (KRT5) and 14 (KRT14) encoding the basal type keratin intermediate filaments have been identified in epidermolysis bullosa simplex (EBS) families and are likely to cause skin fragility. Three novel keratin 14 mutations in cases from the Hungarian Epidermolysis Bullosa Centre are reported. In a 7-year-old boy with Dowling-Meara type EBS (DM-EBS), who had severe skin symptoms with extended herpetiform blisters, a novel amino acid substitution N123K in keratin 14 had been detected. A 26-year-old woman with mild DM-EBS with prominent palmoplantar hyperkeratosis and without active blister formation had a novel R125G mutation in keratin 14. In a 6-year-old girl, with Weber-Cockayne type EBS (WC-EBS) with palmoplantar blisters and moderate mental retardation, a novel V133L substitution was detected. Her pedigree showed autosomal dominant mode of inheritance; in the two other families, only the index patients were affected. The N123K and R125G mutations causing DM-EBS phenotypes are located within the helix initiation motif of the rod domain, whereas the very close V133L mutation underlying the WC-EBS phenotype is outside of this region. These novel amino acid substitutions provide further information for genotype-phenotype correlation in KRT14 mutations, and demonstrate the first molecular genetic data in EBS patients from Hungary.

[Prevalence of atopic dermatitis in school children of Baranya county]. / Atópiás dermatitis elófordulási gyakorisága Baranya megyei iskolás gyermekek körében.

INTRODUCTION: The prevalence of atopic dermatitis (AD) in children has significantly increased worldwide in the past decades. Although it is well known that the number of AD patients has also been growing in Hungary no prevalence studies on a given population have been performed so far. METHODS: The present research investigated the prevalence of AD in school children by means of questionnaires. The data of 1454 (771 girls, 683 boys) children aged 6-14 years in a big city (Pécs, Hungary) and three small settlements (Bóly, Magyarbóly, Villány; Hungary) were analyzed. RESULTS: Applying the standard point values of the Schultz-Larsen questionnaire the prevalence of AD accounted for 15.1%; it was higher in the big city (16.5%) and lower in the small settlements (13.7%). In girls the prevalence of AD (15.9%) was greater than in boys (14%); this difference was more remarkable in the big city (18.2% vs. 14.8%). The first symptoms of AD appeared before the age of two in 58.8% and it was significantly higher in the big city (63.5%) as in the small settlements (52.6%). Among the 221 AD patients there were 38 patients (17.1%) with asthma and 93 (42.1%) with allergic rhinitis. The AD family (parents, brothers and sisters, great parents) proved to be positive in 72.8%. CONCLUSIONS: The results indicate the high prevalence rate of AD in school children in Baranya County, Hungary reaching or nearly approaching the significantly high values registered in the welfare countries.