Multiple trichoepitheliomas – a novel mutation in the CYLD gene

Background Trichoepitheliomas are benign neoplasms with follicular differentiation. They may present as a solitary lesion or as multiple lesions. Multiple trichoepitheliomas are inherited in an autosomal dominant pattern within families, with both variable penetrance and expressivity. Recent investigations support that mutations in CYLD, the gene affected in familial cylindromatosis as well as in Brooke–Spiegler syndrome, are also responsible for multiple trichoepitheliomas. Objective The authors report the case of a 9‐year‐old African girl with multiple facial trichoepitheliomas in whom a mutation in the CYLD gene was hypothesised. Materials and methods After genomic DNA extraction from the peripheral blood, a molecular analysis of the CYLD gene was performed by PCR, DHPLC and automated sequencing. Results A novel heterozygous mutation in exon 18 of the CYLD gene (c.2449delT) was identified, with a deletion of one nucleotide resulting in a premature translational termination codon at amino acid position 831 on the affected allele (p.Cys817Valfs X15). Conclusions The predominating tumours define the classification of these three entities. Nevertheless, studies suggest that they can simply represent phenotypic variations of the same disease spectrum, sharing common genetic mutations.     

Internet-based Self-Assessment after the Tsunami: lessons learned

Background  

In the aftermath of the Tsunami disaster in 2004, an online psychological self-assessment (ONSET) was developed and made available by the University of Zurich in order to provide an online screening instrument for Tsunami victims to test if they were traumatized and in need of mental health care. The objective of the study was to report the lessons learnt that were made using an Internet-based, self-screening instrument after a large-scale disaster and to discuss its outreach and usefulness.     

KPC-2 producing Klebsiella pneumoniae and Escherichia coli co-infection in a catheter-related infection

We describe the first report of simultaneous blood infection with KPC-2 producing Klebsiella pneumoniae and Escherichia coli in a Brazilian patient. We highlight the importance of implementing efficient infection control measures to limit the spread of these phenotypes in a hospital setting.