Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder. This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation.

Objective To determine the incidence, severity and nature of injuries sustained during the Rugby World Cup (RWC) 2015 together with the inciting events leading to the injuries. Design A prospective, whole population study. Population 639 international rugby players representing 20 countries. Method The study protocol followed the definitions and procedures recommended in the consensus statement for epidemiological studies in rugby union; output measures included players' age (years), stature (cm), body mass (kg) and playing position, and the group-level incidence (injuries/1000 player-hours), mean and median severity (days-absence), location (%), type (%) and inciting event (%) for match and training injuries.

This is the first study to compare PL in children and adults. Our findings suggest that, compared with adults, PL in children is more likely to run an unremitting course, with greater lesional distribution, more dyspigmentation and a poorer response to conventional treatment modalities.

ObjectivesThe Professional Rugby Injury Surveillance Project is the largest and longest running rugby union injury surveillance project globally and focuses on the highest level of rugby in England.MethodsWe examined match injuries in professional men’s rugby over the period 2002/2003 to 2018/2019 and described trends in injuries over this time.ResultsOver the period 2002/2003–2018/2019, 10 851 injuries occurred in 1 24 952 hours of match play, equating to a mean of 57 injuries per club per season and one injury per team per match. The mean incidence, severity (days absence) and burden (days absence/1000 hours) of injury were 87/1000 hours (95% CI 82 to 92), 25 days (95% CI 22 to 28) and 2178 days/1000 hours (95% CI 1872 to 2484), respectively. The tackle accounted for 43% injuries with running the second most common activity during injury (12%). The most common injury location was the head/face with an incidence of 11.3/1000 hours, while the location with the highest overall burden was the knee (11.1 days/1000 hours). Long-term trends demonstrated stable injury incidence and proportion of injured players, but an increase in the mean and median severity of injuries. Concussion incidence, severity and burden increased from the 2009/2010 season onwards and from 2011 to 2019 concussion was the most common injury.ConclusionThe rise in overall injury severity and concussion incidence are the most significant findings from this work and demonstrate the need for continued efforts to reduce concussion risk as well as a greater understanding of changes in injury severity over time.

Background A negative association between injuries and team success has been demonstrated in professional football, but the nature of this association in elite Rugby Union teams is currently unclear. Aim To assess the association between injury burden measures and team success outcomes within professional Rugby Union teams. Methods A seven-season prospective cohort design was used to record all time-loss injuries incurred by English Premiership players. Associations between team success measures (league points tally and Eurorugby Club Ranking (ECR)) and injury measures (injury burden and injury days per team-match) were modelled, both within (changes from season to season) and between (differences averaged over all seasons) teams. Thresholds for the smallest worthwhile change in league points tally and ECR were 3 points and 2.6%, respectively.