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Introduction &objectives: Introduction: Itch and pain are acknowledged problems for individuals with RDEB. PEBLES is a prospective register study to record detailed information about what happens to an individual with RDEB and how it affects them over time, including itch and pain. To report preliminary findings regarding itch and pain reported by individuals with RDEB. Materials &methods: Methods: Individuals recruited to PEBLES were reviewed annually for those 10 years and older and 6-monthly for those under 10 years. All participants reported background and procedural pain (dressing changes) on a 10cm visual analogue scale (VAS) and indicated the number of nights their sleep was disturbed by pain. Participants aged 8 years and above also completed the Leuven Itch Scale (version 1.0). The study was ethically approved by the UK Research Ethics Committee and Health Research Authority. Result(s): Data regarding itch and pain at initial review were available for 38 adults (79%) and 10 children (21%). Of these, 31 (65%) completed four reviews spanning 2-4 years. Participants with RDEB generalised severe (RDEB-GS) reported the greatest number of nights sleep disturbed by pain: only 19% had undisturbed sleep compared to 39% of individuals with RDEB generalised intermediate (RDEB-GI) and 29% with RDEB-other. Participants in all subtypes reported significant background pain (median 4.3, IQR 2.9,6.0) with greater procedural pain (median 6.0, IQR 4.0,7.6); background and procedural pain levels were greatest for participants with RDEB-GS. Individuals with RDEB-GS (n=36) experienced more frequent itch, greater severity and distress, but shortest duration. More than half of all individuals reported consequences of itching such as skin damage, disturbed routine, difficulty falling asleep, being woken up by itchd mood and loss of concentration. Reduced quality of life was a common consequence of itch in RDEB-GS not other subtypes. Nearly half (44%) were not using treatment for it

Introduction &objectives: Introduction: Little information exists about the cost of treating individuals with RDEB. PEBLES is a prospective register study designed to record detailed information about what happens to an individual with RDEB and how it affects them over time, including costs of dressings and associated treatment. Objective(s): To report preliminary findings regarding the cost of dressings and associated treatment of individuals with RDEB. Materials &methods: Individuals recruited to PEBLES were reviewed annually for those 10 years and older and 6-monthly for those under 10 years. At each review, participants reported their weekly use of dressings and fixings, and details regarding care provision and funding. Costs are reported per annum (pa) as GBP () and were calculated as at August 2017; cost of paid care was calculated at 12.50 per hour regardless of location or carer's actual pay scale. The study was ethically approved by the UK Research Ethics Committee and Health Research Authority Results: A total of 53 patients with RDEB had an initial review at which the total annual cost of wound dressings, tubular bandages and retention garments was 2,431,844; as some participants provided incomplete data, these findings are a conservative estimate. The average wound care cost ranged from 2,709 pa for RDEB inversa (RDEBINV, n=5), increasing to 81,858 pa for RDEB generalised severe (RDEB-GS, n= 18); participants with RDEB-GS accounted for 61% of total annual dressings costs. Only four participants did not require any dressings: 2 with RDEB-generalised intermediate (RDEB-GI) and 2 with RDEB-INV. The average time taken to change dressings ranged from 105 minutes daily for RDEB-GS to 39 minutes daily for RDEB-GI. Most participants (71%) changed their dressings all at once, with patch-ups as required. Ten (56%) participants with RDEB-GS received paid care at an average cost of 31,980 pa. Thirteen (72%) participants with RDEB-GS received unpaid care from a famil

Introduction &objectives: Some forms of epidermolysis bullosa (EB), notably severe generalized recessive dystrophic EB (RDEB-SG), are associated with an increased risk of developing mucocutaneous squamous cell carcinomas (SCCs) which behave aggressively and are the major cause of mortality in early to midadulthood. We report our centres' experience of EB-associated SCCs over the last 28 years. Materials &methods: An observational, retrospective, double institution case record review of EB patients diagnosed with SCC between July 1991-June 2019. Result(s): Forty-four EB patients with SCC were identified with a total of 221 primary SCCs. They comprised: 31 (70%) with RDEB-SG, 1 (2.3%) with RDEB-pruriginosa, 1 with RDEBinversa (2.3%), 2 (4.5%) with RDEB-generalised intermediate, 3 (6.8%) with junctional EB generalised intermediate (JEB-GI), 5 (11.4%) with dominant dystrophic EB, and 1 (2.3%) with Kindler syndrome. Diagnosis of first SCC was earlier in the RDEB-SG group (median 29.5 years (range 13-52 years)) compared to other groups collectively (median 47.1 years (range 30-89 years)). Most SCCs occurred in the RDEB-SG group, and the majority had multiple tumours (mean 5.8 (range 1-44)). SCC-associated mortality was high in this group (64.5%), with a median survival after diagnosis of first SCC of 2.4 years (range 0.5-12.6 years). Most SCCs were well-differentiated (53.4%) and located on the extremities. Wide local excision was undertaken for the majority of tumours (86.4%). Metastatic disease occurred in 16 of 31 (51.6%) RDEB-SG patients and 1 with JEB-GI. Treatments for metastatic disease included lymph node dissection (n = 6), radiotherapy (n= 5), chemotherapy (n=3), electrochemotherapy (n= 2), and targeted cancer therapies erlotinib (n=1), cetuximab (n =2) and cemiplimab (n= 1). Treatments were generally welltolerated, however were limited in response with the exception of cemiplimab. Conclusion(s): EB-associated SCCs differ from those in the general population: th

Introduction &objectives: Introduction: RDEB has a significant impact on the quality of life of affected individuals and their families. (1,2) PEBLES is an prospective register study designed to record detailed information about what happens to an individual with RDEB and how this affects them over time. This includes both the physical aspects and impact on quality of life. Objective(s): To report preliminary findings from the PEBLES study regarding quality of life for adults and children with RDEB. Materials &methods: Methods: Individuals recruited to PEBLES were reviewed annually for those 10 years and older and 6-monthly for those under 10 years. At each review, participants completed an ageappropriate quality of life questionnaire. Children aged 5-18 years and parents of children aged 2-18 years completed the Pediatric Quality of Life Inventory version 4 (PedsQL). Adults aged 19 years and above completed the Quality of Life in EB questionnaire (QOLEB). The study was ethically approved by the UK Research Ethics Committee and Health Research Authority. Result(s): Thirtyseven adults completed QOLEB at their initial review, and 25 (68%) completed two subsequent reviews spanning a period of three years. Adults with RDEB generalised severe (RDEB-GS) reported severe impact on overall quality of life scores (24/51) and physical functioning (19/36), but only mild impact on emotions (5/15). Other subtypes reported less overall impact on quality of life, with very mild impact on emotions (=4/15). Individuals with RDEB-GS reported greater impact of EB on all aspects of daily life than other subtypes except for being worried/anxious and being made to feel uncomfortable because of their EB. Four children and 11 parents completed PedsQL at their initial review; of these, 7 children and their parents (64%) completed PedsQL at a further 4 reviews spanning a period of three years. Children and their parents reported impact on quality of life was greater for physical health, with

This article summarizes recommendations reached following a systematic literature review and expert consensus on the diagnosis and management of cutaneous squamous cell carcinomas in people with epidermolysis bullosa. The guidelines are intended to help inform decision making by clinicians dealing with this complex complication of a devastating disease.Copyright © 2015 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.

Item does not contain fulltext, BACKGROUND: The inversa type of recessive dystrophic epidermolysis bullosa (RDEB-I) is a rare variant of dystrophic epidermolysis bullosa, characterised by blistering in the body flexures, trunk, and mucosa. The cause of this specific distribution is unknown. So far, 20 COL7A1 genotypes have been described in RDEB-I and genotype-phenotype correlations have not been studied extensively. The aim of the study was to gain more insight into the pathophysiology of this intriguing RDEB-I phenotype. METHODS: Twenty Dutch and British RDEB-I patients, and full genotypes in 18 of them, were identified. The literature on RDEB-I genotypes was reviewed and an extensive genotype-phenotype correlation study for RDEB-I was conducted. RESULTS: All 20 patients had generalised blistering at birth and during early infancy. In most patients, the age of transition from generalised to inversa distribution was before the age of 4 years. A spectrum of disease severity, ranging from the mildest 'mucosal only' phenotype to the severest phenotype with limited acral involvement, was noted. The 29 genotypes of these RDEB-I patients and those reported in the literature revealed that RDEB-I is associated with specific recessive arginine and glycine substitutions in the triple helix domain of type VII collagen. DISCUSSION AND CONCLUSION: Why these specific arginine and glycine substitutions cause the inversa distribution remains unknown. It was not possible to identify clear differences in location and nature of substituting amino acids between these mutations and missense mutations causing other RDEB phenotypes. It is hypothesised that the higher skin temperature in the affected areas plays an important role in the pathophysiology of RDEB-I.