Subcutaneous granuloma annulare of the penis associated with a urethral anomaly: case report and review of the literature.

Granuloma annulare (GA) is an uncommon benign inflammatory skin condition, most often found on the extremities of young females. The subcutaneous variant of GA involving the penis is very rare. We report a case of subcutaneous GA associated with a urethral anomaly in a 15-year-old boy that persisted for a year. Treatment options are discussed with a review of the current literature.

[Pseudo-Bartter syndrome in a case of cystic fibrosis caused by C1529G and G3978A compound heterozygosity]. / Pszeudo-Bartter-szindróma kialakulása kapcsán felismert C1529G- és G3978A-mutációk együttese által okozott cisztás fibrosis.

The 8-month-old patient was hospitalized after a few days of apathy and feeding difficulty with moderate exsiccation. Severe hypokalemia, hyponatremia, hypochloremia associated with alkalosis were found, which were accompanied by the decreased urinary electrolytes and elevated serum renin and aldosterone, therefore the condition corresponded to a pseudo-Bartter syndrome. The diagnosis of cystic fibrosis was arisen, which was established by the elevated sweat chloride levels. Sequencing of the 27 exons of the cystic transmembrane regulator gene two rare mutations were detected in compound heterozygous form: in the exon 10 a C1529G transversion, whereas in the exon 20 a G3978A transition was verified, both of them result in development of premature stopcodons (S466X and W1282X, respectively). Carriage of first mutation could be found in the asymptomatic mother, while the other one was identified in the father. In the proband and in the mother a G3341A mutation was also detected in exon 17, which causes an R1070Q amino acid change. However, this likely cannot associate with pathology since the existing premature stopcodon on the same allele does not allow synthesis of protein. These mutations have been described in combination with delta F508 mutation, however, their simultaneous presence in the same subject has not been reported. During the one and half year follow-up the clinical picture appeared benign.

[Prevalence of childhood asthma in Baranya County, Hungary, between 2003 and 2006]. / A gyermekkori asztma prevalenciájának alakulása Baranya megyében 2003 és 2006 között.

INTRODUCTION: The prevalence of bronchial asthma, allergic rhinitis and atopic dermatitis (AD) in children has constantly and significantly increased worldwide in the past decades. Recent publications, however, reported a moderate decrease or levelling off in this parameter. The authors estimated the prevalence of bronchial asthma and asthmatic complaints among schoolchildren in Baranya county in the years 2003 and 2006 in order to register the possible changes. MATERIALS AND METHODS: Both surveys were carried out by means of identical questionnaires which were consistent with the ISAAC Phase III. protocol. The data were collected in 16 primary schools (6 in a city, 10 in small settlements and villages) in February 2006. Finally 2404 questionnaires (1124 boys, 1280 girls) in two age groups, among 6-7 and 13-14-year-old children were processed and compared to the data derived from the survey done in 2003. RESULTS: The prevalence of the "wheezing-ever" and "physician diagnosed asthma" did not change during the observation period (2006: 20.2% and 6.7%; 2003: 19.8% and 8.2%) but there was a significant increase in the frequency of "wheezing in the last 12 months" (2006: 9.6%; 2003: 6.8%). As expected, significantly higher prevalence rates were detected among boys and in the 6-7-year-old age group than among girls and in the 13-14-year-old age group in both surveys. There was no significant difference in the two surveys in the prevalence of bronchial asthma and asthmatic signs between children from a city and from small settlements. CONCLUSION: During the observation period of three years there was a significant increase "wheezing in the last 12 months", but the prevalence of "wheezing-ever" as well as the "physician-diagnosed asthma" remained unchanged.

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

Gap junctions are formed by a polygenic family of more than 20 different connexin proteins. They mediate intercellular communication via the direct exchange of ions, metabolites and secondary messengers, thus controlling and coordinating cellular activities. Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing loss and/or disorders of the skin and its appendages, often giving rise to overlapping phenotypes. In this study we present a patient with hidrotic ectodermal dysplasia, who had abortive features of oculo-dento-digital dysplasia, extensive hyperkeratosis of the skin. The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26). Our findings suggest that GJA1 mutations can produce variable clinical phenotypes on the background of sequence variants in other connexins.

[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.

Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria.

BACKGROUND: The epithelial Ca(2+) channel (ECaC) exhibits the defining properties for being the gatekeeper in 1,25-dihydroxyvitamin D(3)-regulated Ca(2+) (re)absorption. Its recently cloned human orthologue (ECaC1) could, therefore, represent a crucial molecule in human disorders related to Ca(2+)-wasting such as idiopathic hypercalciuria (IH). METHODS: Fifty-seven members of nine families with IH were investigated. Phenotyping was performed by measurements of urinary Ca(2+) excretion, while other underlying disorders were appropriately excluded. Initially, the recently suggested locus for kidney stone-associated hypercalciuria on chromosome 1q23.3-q24 was investigated. Next, direct mutation analysis of all 15 exons of the ECAC1 gene and 2.9 kb upstream from the start codon was performed. hECaC1, heterologously expressed in human embryonic kidney 293 cells, was characterized by patch-clamp analysis. RESULTS: The mode of inheritance in the studied pedigrees is consistent with an autosomal dominant trait. Haplotype analysis did not implicate a role of the locus on chromosome 1. The coding sequence of the ECAC1 gene was not different between the affected and the non-affected family members. In the 5'-flanking region, three single nucleotide polymorphisms were encountered, but these polymorphisms were observed regardless of the affection status of the screened family members. Patch-clamp analysis of hECaC1 was performed as the putative pore region contains four non-conserved amino acid substitutions compared with the other species. This analysis revealed the distinctive properties of ECaC, including a high Ca(2+) selectivity, inward rectification, and Ca(2+)-dependent inactivation. CONCLUSION: These results do not support a primary role for hECaC1 in IH in nine affected families. Because of the heterogeneity of the disease, however, the involvement of ECaC1 in other subtypes of IH cannot be excluded and needs further investigation. The electrophysiological properties of hECaC1 further substantiate its prime role in Ca(2+) (re)absorption.