Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosa.

We report a novel homozygous 49.6 kb deletion of chromosome 18q12.1 involving the last exon of DSG3 in dizygotic twins with phenotype consistent with acantholytic blistering of the oral and laryngeal mucosa (ABOLM). The twin siblings presented predominantly with friability of the laryngeal and respiratory mucosa. This is only the second report in the literature of this unusual autosomal recessive blistering disorder. The diagnosis explains the mucosal phenotype of a pemphigus-like disorder without evidence of autoimmune dysfunction. The exclusion of an autoimmune basis has management implications. The deletion also involved the DSG2 gene, which is associated with arrhythmogenic right ventricular dysplasia (ARVD). The affected siblings and heterozygous parents do not show any cardiac phenotype at this time. Functional studies would further clarify how deletions resulting in loss of function of DSG3 may cause the reported phenotypes of DSG3-related ABOLM.

Quality of life assessment in women with breast cancer: benefits, acceptability and utilization.

In 2006, breast cancer was the third leading cause of death in American women; however, more women survive breast cancer than any other type of cancer. As the disease progresses, it is important to know how one's health-related quality of life (QOL) is affected for those who receive treatment, those who survive, and those who remain disease-free. The purpose of this study was to summarize the benefits, challenges, and barriers of QOL measurement for female breast cancer patients. A PubMed literature search was conducted using the terms "quality of life" and "breast cancer." The search was then refined with terms related to QOL assessment instruments. The research team reviewed over 100 of the 2,090 articles identified. From the results, a detailed outline of QOL instruments is presented, and the effectiveness of QOL instruments is discussed. In the current literature review, both generic and breast cancer specific QOL instruments, examining computerized and paper-and-pencil versions, are explained as well as the advantages, acceptability, and problems of these assessments. Potential barriers to implementation are also discussed. The implementation of QOL assessment tools in breast cancer clinical practice is discussed, with evidence detailing how such tools would benefit patients.