Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.

Cutaneous Kaposi's sarcoma in an HIV-negative patient with Crohn's disease on thiopurine immunosuppression.

We present the rare case of a 61-year-old man with Crohn's disease who developed a cutaneous Kaposi's sarcoma in the setting of long-term treatment with 6-mercaptopurine. Deciding on the best course of management provided a clinical challenge in an 'evidence-light' area. Relevant case reports and guidelines were reviewed. In general, the withdrawal of immunosuppressive therapy is advised; however, a multidisciplinary, case-by-case approach is also emphasised. The patient's lesion was removed and, following collaborative discussion, immunosuppression was continued post resection. This is thought to be the first reported case involving a Kaposi's sarcoma in inflammatory bowel disease where immune therapy was not subsequently discontinued.

Developing a ward round checklist to improve patient safety.

Checklists have been shown to improve care and reduce morbidity and mortality in the healthcare setting.[1] Their application in safety-critical industries outside of medicine continues to offer a strong argument for their application to medicine.[2] The daily in-patient medical ward round is a complex process and includes multiple potential risks to patient safety. This project aims to evaluate the effectiveness of a ward round review checklist on one general medical ward in a district general hospital in the UK. A baseline audit was performed, examining case-notes for a set of pre-defined outcome measures relevant to patient safety. Compliance with documentation of each outcome measure was assessed prior to the introduction of a ward round checklist. This was followed by a quality improvement project through the use of PDSA cycles, with the aim of introducing and developing a ward round checklist over a nine month period. Following the introduction of a checklist, overall compliance with documentation of each outcome measure improved from 45% to 89%. In conclusion, a quality improvement project involving the introduction of a ward round checklist for daily use has resulted in improved documentation of outcome measures that are relevant to patient safety. Teamwork and leadership skills from clinicians committed to improving patient safety is essential to sustaining improvements in traditional ward round practice.