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Background: Epidermolysis Bullosa (EB) is a genetic condition with fragility of the skin and oral mucosal lining requiring appropriate care and management by dental health professionals. The objective of this scoping review was to comprehensively examine the specialised dental needs of children with Epidermolysis Bullosa and map evidence towards the type, availability, and accessibility of specialised dental care services within various health care systems. Methods: This scoping review was conducted using the JBI Methodology framework for scoping reviews. Five databases were used to source relevant literature: MEDLINE, Embase, Dentistry & Oral Sciences Source, Scopus, and Web of Science during the period 1963–2022. Results: Thirty three published case reports were identified reporting on 45 participants encompassing the dental care and management of children diagnosed with EB aged between 0–12 years of age from an Australian and international health care context. The findings reveal the need for greater awareness amongst health professionals in the management and specialised dental care needs of children and the need for further research, and care pathways for children with EB. Conclusion: There is a dearth of evidence which examines the dental needs of children, in particular referral pathways and timely access to dental health services and professionals. Dentists play an important role in monitoring and providing individualised and specialised oral care and treatment to the child with EB. It is vital that dentists as well as the wider multidisciplinary team have knowledge and understanding of the EB condition in meeting the specialised needs and management of these children. [ABSTRACT FROM AUTHOR]

Many people living with a rare disease (RD) face challenges accessing timely diagnosis and disease-specific specialist care. Early health-care challenges for people living with Epidermolysis Bullosa (EB), a rare genetic disease affecting 1:20,000 individuals, can begin in the antenatal period.People living with EB in Australia have access to a government funded disease specific antenatal education and support program through the National Epidermolysis Bullosa Dressing scheme (NEBDS). This article discusses two births involving families living with EB Simplex (EBS) in regional Australia. The education and support structures implemented by the NEBDS and clinical teams are discussed in line with the Australian National Strategic Action Plan for rare diseases, and includes access to genetic diagnosis, EB education, and complex care coordination., (© 2024. The Author(s).)

We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Data detailing SCC was obtainable from 16/17 RDEB-SCC patients. A total number of 161 primary SCCs occurred in 16 RDEB-SCC patients with a mean of 10 SCCs per person. The earliest age of first SCC development was 16 years. Eleven out of 16 RDEB-SCC patients eventually developed metastatic SCCs. The majority of the tumours were well and moderately differentiated. The cumulative risk of SCC development by age 35 was 76.1% for RDEB-Generalized Severe (RDEB-GS) and 10% for RDEB-Generalized Intermediate (RDEB-GI). Amongst those who developed SCCs, their median time to death after first SCC was 5 years for RDEB-GI and 4 years for RDEB-GS. This is the first retrospective study of RDEB-SCC in Australasia. [ABSTRACT FROM AUTHOR]

Epidermolysis Bullosa (EB) is a rare genetic skin disorder characterised by fragility and blistering of skin and mucous membranes. Skin can blister and shear away from minimal friction, trauma and every day activities. The disease causes a wide range of complications but wound care is the major challenge to severe EB, and good wound care is an essential part of wound management. The goal of wound care was to choose a product that protects the fragile skin, limits friction, decreases pain and promotes healing. However, access to wound dressings for those people living with EB is challenging. This article discusses the availability of EB dressings in a number of countries around the world and also describes an innovative National Epidermolysis Bullosa Dressings Scheme (NEBDS) in Australia, which aims to improve the quality of life of people with EB, by reducing the financial burden associated with the provision of dressings accordingly. [ABSTRACT FROM AUTHOR]

Patients with generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail dystrophy, patchy alopecia, and dental abnormalities. Skin fragility in most cases is due to mutations in the gene encoding type XVII collagen (COL17A1). Recently, we reported five Austrian families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutation. Affected individuals in three families are homozygous for 4003delTC, whereas those in two others are compound heterozygotes. To determine if the occurrence of 4003delTC in these unrelated families signifies propagation of an ancestral allele or a mutational hot spot, haplotypes were determined for polymorphisms both within and flanking COL17A1. Five intragenic polymorphisms were chosen based on their informativeness. One of these, not previously reported, was 2988 A or C that introduces a new restriction site for Eco0109 I. All the 4003delTC alleles showed the same haplotype for these five polymorphic markers. Fourteen microsatellite polymorphisms were selected based on their high heterozygosity and their location within 10q23–q25 near COL17A1. Three families shared microsatellite polymorphisms covering at most 19 cM, whereas the others shared smaller regions consistent with cross‐over events during passage of this mutation through several generations. These results indicate that 4003delTC occurs on a single ancestral allele. [ABSTRACT FROM AUTHOR]

The article presents a series of case descriptions of various dermatological conditions featured in the clinical meeting of the Dermatological Association of Australia of April 12th, 1951. Among the conditions described include Lupus Erythematosus, Calcinosis Cutis Circumscripta, and Epidermolysis Bullosa Congenita.

Summary: Epidermolysis bullosa (EB) is a complex rare condition that affects the skin and many parts of the body. Those born with EB have skin so fragile they are called 'butterfly children', their skin is quite simply as fragile as the wing of a butterfly. In the UK it is estimated that there are more than 5,000 people living with EB and 500,000 worldwide. Little clinical guidance for care existed until DEBRA International started a programme to develop clinical practice guidelines (CPGs). There were no previous guidelines and few published studies on foot care in EB so treatment decisions were largely based on individual opinion and experience. The panel – made up of clinical experts and people living with EB representing Australia, the UK, and the USA – aimed to describe foot problems in people of all ages with EB, and summarise current evidence and management. The authors used a logical podiatric (foot) care literature review focussed on patients with EB. The authors found that the evidence in this area was limited but several interventions (treatments) currently practised by podiatrists show positive outcomes. The study allowed the group to make recommendations on how to treat foot and nail disorders in patients with EB. Furthermore, the authors concluded that further research is needed. This is a summary of the study: Foot care in epidermolysis bullosa: evidence‐based guideline Linked Article: Khan et al. Br J Dermatol 2020; 182:593–604 [ABSTRACT FROM AUTHOR]

Epidermolysis bullosa (EB) consists of a spectrum of genodermatoses characterised by skin fragility and various degrees of skin and mucous membrane blistering. Minimal trauma and friction can cause extensive blistering in patients with EB, resulting in a number of complications. However, wound management is the main challenge for these patients because of a high risk of infection, fluid loss and potential development of aggressive squamous cell carcinoma (SCC). Indeed, patients with EB have an increased risk for developing skin cancers compared to the general population. In 2012, a home nursing programme was established in Australia to provide assistance to families or patients with severe forms of EB. Nursing care was provided to patients with severe EB during dressing changes in their homes over a period of 2 years. Both families of patients and nurses were surveyed periodically using a developed questionnaire to assess the benefits of this home nursing and its impact on the patients, their families and the nurses. Key findings included a perceived improvement in quality of life, a better provision of support and improved family life management. These findings are the first to highlight the benefits of this national home nursing programme for EB patients within Australia and demonstrate the continued need and benefit of home nursing for patients with severe skin blistering disorders., (© 2014 Medicalhelplines.com Inc and John Wiley & Sons Ltd.)