X-linked ichthyosis: New insights into a multi-system disorder

Background X-linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males; it is characterised by abnormal desquamation and retentionhyperkeratosis, and presents with polygonal brown scales. Most cases resultfrom genetic deletions within Xp22.31 spanning the STS (steroid sulfatase)gene, with the remaining cases resulting from STS-specific mutations. For manyyears it has been recognised that individuals with XLI are at increased risk ofcryptorchidism and corneal opacities. Methods We discuss emerging evidence that such individuals are alsomore likely to be affected by a range of neurodevelopmental and psychiatrictraits, by cardiac arrhythmias, and by rare fibrotic and bleeding-relatedconditions. We consider candidate mechanisms that may confer elevatedlikelihood of these individual conditions, and propose a novel commonbiological risk pathway. Results Understanding the prevalence, nature and co-occurrence ofcomorbidities associated with XLI is critical for ensuring early identificationof symptoms and for providing the most effective genetic counselling andmultidisciplinary care for affected individuals. Conclusion Future work in males with XLI, and in new preclinical andcellular model systems, should further clarify underlying pathophysiologicalmechanisms amenable to therapeutic intervention

Cardiac arrhythmia in individuals with steroid sulfatase deficiency (X linked ichthyosis): candidate anatomical and biochemical pathways

Circulating steroids, including sex hormones, can affect cardiac development and function. In mammals, steroid sulfatase (STS) is the enzyme solely responsible for cleaving sulfate groups from various steroid molecules, thereby altering their activity and water solubility. Recent studies have indicated that Xp22.31 genetic deletions encompassing STS (associated with the rare dermatological condition X-linked ichthyosis), and common variants within the STS gene, are associated with a markedly elevated risk of cardiac arrhythmias, notably atrial fibrillation/flutter. Here, we consider emerging basic science and clinical findings which implicate structural heart abnormalities (notably septal defects) as a mediator of this heightened risk, and propose candidate cellular and biochemical mechanisms. Finally, we consider how the biological link between STS activity and heart structure/function might be investigated further and the clinical implications of work in this area

A mixed methods systematic review of digital interventions to support the psychological health and well-being of people living with dermatological conditions

Background: Dermatological conditions can have a substantial impact on psychological as well as physical health yet dedicated face-to-face psychological support for patients is lacking. Thus, individuals may require additional support to self-manage dermatological conditions effectively. Digital technology can contribute to long-term condition management, but knowledge of the effectiveness of digital interventions addressing psychological (cognitive, emotional, and behavioural) aspects of dermatological conditions is limited. Objectives: To identify, determine the effectiveness, and explore people’s views and experiences of digital interventions supporting the psychological health of people with dermatological conditions. Methods: A mixed methods systematic review informed by JBI methodology. The protocol was registered on PROSPERO. Eight electronic databases were searched for papers written between January 2002 and October 2021. Data screening and extraction were conducted in Covidence. The methodological quality of studies were scrutinised against JBI critical appraisal tools. Intervention characteristics were captured using the Template for Intervention Description and Replication checklist and guide. Data were synthesised using a convergent segregated approach. The results were reported in a narrative summary. Results: Twenty-three papers were identified from 4,883 references, including 15 randomised controlled trials. Nineteen interventions were condition-specific, 13 were delivered online, 16 involved an educational component, and 7 endorsed established, evidence-based therapeutic approaches. Improvements in knowledge, mood, quality of life, the therapeutic relationship, and reduced disease severity in the short to medium term, were reported, although there was substantial heterogeneity within the literature. Thirteen studies captured feedback from users, who considered various digital interventions as convenient and helpful for improving knowledge, emotion regulation, and personal control, but technical and individual barriers to use were reported. Use of established qualitative methodologies was limited and, in some cases, poorly reported. Conclusion: Some web-based digital psychological interventions seem to be acceptable to people living with mainly psoriasis and eczema. Whilst some digital interventions benefitted cognitive and emotional factors, heterogeneity and inconsistencies in the literature meant definitive statements about their effectiveness could not be drawn. Interdisciplinary and patient-centred approaches to research are needed to develop and test quality digital interventions supporting the psychological health of adults living with common and rare dermatological conditions

The conservation status of the world’s reptiles

Effective and targeted conservation action requires detailed information about species, their distribution, systematics and ecology as well as the distribution of threat processes which affect them. Knowledge of reptilian diversity remains surprisingly disparate, and innovative means of gaining rapid insight into the status of reptiles are needed in order to highlight urgent conservation cases and inform environmental policy with appropriate biodiversity information in a timely manner. We present the first ever global analysis of extinction risk in reptiles, based on a random representative sample of 1500 species (16% of all currently known species). To our knowledge, our results provide the first analysis of the global conservation status and distribution patterns of reptiles and the threats affecting them, highlighting conservation priorities and knowledge gaps which need to be addressed urgently to ensure the continued survival of the world’s reptiles. Nearly one in five reptilian species are threatened with extinction, with another one in five species classed as Data Deficient. The proportion of threatened reptile species is highest in freshwater environments, tropical regions and on oceanic islands, while data deficiency was highest in tropical areas, such as Central Africa and Southeast Asia, and among fossorial reptiles. Our results emphasise the need for research attention to be focussed on tropical areas which are experiencing the most dramatic rates of habitat loss, on fossorial reptiles for which there is a chronic lack of data, and on certain taxa such as snakes for which extinction risk may currently be underestimated due to lack of population information. Conservation actions specifically need to mitigate the effects of human-induced habitat loss and harvesting, which are the predominant threats to reptiles