IntroductionXeroderma pigmentosum (XP) is a rare genetic condition caused by defective nucleotide excision repair and characterised by skin cancer, ocular and neurological involvement. Stringent ultraviolet protection is the only way to prevent skin cancer. Despite the risks, some patients’ photoprotection is poor, with a potentially devastating impact on their prognosis. The aim of this research is to identify disease-specific and psychosocial predictors of photoprotection behaviour and ultraviolet radiation (UVR) dose to the face.Methods and analysisMixed methods research based on 45 UK patients will involve qualitative interviews to identify individuals’ experience of XP and the influences on their photoprotection behaviours and a cross-sectional quantitative survey to assess biopsychosocial correlates of these behaviours at baseline. This will be followed by objective measurement of UVR exposure for 21 days by wrist-worn dosimeter and daily recording of photoprotection behaviours and psychological variables for up to 50 days in the summer months. This novel methodology will enable UVR dose reaching the face to be calculated and analysed as a clinically relevant endpoint. A range of qualitative and quantitative analytical approaches will be used, reflecting the mixed methods (eg, cross-sectional qualitative interviews, n-of-1 studies). Framework analysis will be used to analyse the qualitative interviews; mixed-effects longitudinal models will be used to examine the association of clinical and psychosocial factors with the average daily UVR dose; dynamic logistic regression models will be used to investigate participant-specific psychosocial factors associated with photoprotection behaviours.Ethics and disseminationThis research has been approved by Camden and King’s Cross Research Ethics Committee 15/LO/1395. The findings will be published in peer-reviewed journals and presented at national and international scientific conferences.

Objectives Xeroderma pigmentosum (XP) is an extremely rare genetic disorder (approximately 100 known cases in the United Kingdom), where DNA damage caused by ultraviolet radiation in daylight cannot be repaired. Adherence to photoprotection is essential to prevent skin cancer. We investigated psychological correlates of photoprotection in the XP population of Western Europe and the United States. Design Cross‐sectional survey of adults with XP and caregivers of patients <16 years and those with cognitive impairment in the United Kingdom, Germany, the United States, and France (n = 156). Methods Photoprotection activities to protect the face and body when outdoors; avoidance of going outside during daylight hours; intention; self‐efficacy; and social support were assessed using measures developed for this study. Participants answered questions about their illness representations of XP (BIPQ); beliefs about photoprotection (BMQ); automaticity (i.e., without conscious effort) (SRBAI); clinical and demographic characteristics. Ordinal logistic regressions determined factors associated with photoprotection. Results One third did not achieve optimal face photoprotection. After controlling for demographic and clinical factors, modifiable correlates of higher photoprotection included greater perceived control of XP, stronger beliefs in necessity and effectiveness of photoprotection, and higher intention. Avoidance of going outside was associated with greater photoprotection concerns, more serious illness consequences, and higher XP‐related distress. Greater automaticity and higher self‐efficacy were associated with better protection across all outcomes. Conclusions Approximately half of all known cases across three European countries participated. Identified modifiable predictors of photoprotection may be targeted by interventions to reduce the incidence of skin cancers in the immediate future, when a treatment breakthrough is unlikely. What is already known on this subject? Adherence to photoprotection in other populations at elevated risk from skin cancer is poor; however, the level in XP is unknown. Research across chronic conditions shows that adherence to treatment and lifestyle recommendations are influenced by illness perceptions, self‐efficacy, and treatment beliefs. Studies on photoprotection conducted with the general population have found that perceived risk, perceptions of ultraviolet radiation (UVR) protection, self‐efficacy for the behaviour, and automaticity (behaviours that are enacted with little conscious awareness) are related to better photoprotection. What does this study add? This is the first international survey to examine adherence and its correlates in people with XP (an under‐researched group at very high risk of fatal skin cancer). Adherence varies and at least one third have potential for improvement. Perceptions about XP, photoprotection beliefs, self‐efficacy, intention, and automaticity were associated with photoprotection of the face and body when outdoors. Negative emotional re...

The mechanobullous disease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations in the type VII collagen gene (COL7A1) on chromosome 3p21.31. Typically, there are frameshift, splice site, or nonsense mutations on both alleles. In this report, we describe a patient with HS-RDEB, who was homozygous for a new frameshift mutation, 345insG, in exon 3 of COL7A1. However, sequencing of parental DNA showed that although the patient's mother was a heterozygous carrier of this mutation, the father's DNA contained only wild-type sequence. Microsatellite marker analysis confirmed paternity and genotyping of 28 microsatellites spanning chromosome 3 revealed that the affected child was homozygous for every marker tested with all alleles originating from a single maternal chromosome 3. Thus, the HS-RDEB phenotype in this patient is due to complete maternal isodisomy of chromosome 3 and reduction to homozygosity of the mutant COL7A1 gene locus. To our knowledge, there are no published reports of uniparental disomy (UPD) in HS-RDEB; moreover, this case represents only the third example of UPD of chromosome 3 to be reported. The severity of the HS-RDEB in this case was similar to other affected individuals and no additional phenotypic abnormalities were observed, suggesting an absence of maternally imprinted genes on chromosome 3.

Children with chronic health needs are living longer than they have in the past (Department of Health, 2006) and are becoming adults with complex health needs. This has implications for the health service, which needs to address the arrangements for transfer of young adults from paediatric to adult centres. This article describes the transitional care arrangements established at Great Ormond Street Hospital to address the needs of children with severe epidermolysis bullosa as they move on to adult care. It emphasises the close liaison between paediatric and adult clinical nurse specialists, and recognizes the role of the wider family who also have long-standing links with staff in the paediatric environment and can find transfer to an adult unit traumatic. The article concludes by recognizing that the young adult and specialist teams need to work together to continue the transition process for future generations.

Summary Background In xeroderma pigmentosum (XP), the main means of preventing skin and eye cancers is extreme protection against ultraviolet radiation (UVR). Protection is most important for the face. Objectives We aimed to assess how well patients with XP adhere to medical advice to protect against UVR by objectively estimating the mean daily dose of UVR to the face. Methods We objectively estimated the UVR dose to the face in 36 patients with XP and 25 healthy individuals over 3 weeks in the summer. We used a new methodology which combined UVR dose measurements from a wrist‐worn dosimeter with an activity diary record of face photoprotection behaviour for each 15‐min period spent outside. A protection factor was associated with each behaviour, and the data were analysed using a negative binomial mixed‐effects model. Results The mean daily UVR dose (weighted for DNA damage capacity) to the face in the patients with XP was 0·13 standard erythemal doses (SEDs) (mean in healthy individuals = 0·51 SED). There was wide variation between patients (range < 0·01–0·48 SED/day). Self‐caring adult patients had a very similar UVR dose to the face as cared‐for patients (0·13 vs. 0·12 SED/day), despite photoprotecting much more poorly when outside, because the self‐caring adults were outside in daylight much less. Conclusions Photoprotection behaviour varies widely within the XP group indicating that nonadherence to photoprotection advice is a significant issue. The timing and duration of going outside are as important as photoprotective measures taken when outside, to determine the UVR exposure to the face. This new methodology will be of value in identifying the sources of UVR exposure in other conditions in which facial UVR exposure is a key outcome, particularly in patients with multiple nonmelanoma skin cancers.