Materiały źródłowe

• #1 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. […] Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. […] The incidence and point prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. […] The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized setup, indicating that EB might be more common than previously assumed. […] These epidemiological data help to understand the extensive need for (specialized) medical care of EB patients and is invaluable for the design and execution of therapeutic trials.

• #2 Epidermolysis bullosa: Epidemiology, pathogenesis, classification, and clinical features – UpToDate

  https://www.uptodate.com/contents/epidemiology-pathogenesis-classification-and-clinical-features-of-epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous inherited skin fragility disorder characterized by disruption of the skin’s structure at the dermoepidermal junction or in the basal layer of the epidermis, resulting in increased cutaneous vulnerability to mechanical stress. […] The epidemiology, pathogenesis, and clinical features of EB are discussed in this topic. […] EB, and particularly its more severe variants, carries a considerable societal burden that affects patients, caregivers, and health care providers.

• #3 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. […] The United States National Epidermolysis Bullosa Registry found the overall incidence and prevalence of epidermolysis bullosa to be 19.6 and 11.07 cases per 1 million live births, respectively. The incidence and prevalence of epidermolysis bullosa simplex were found to be 7.87 and 6 cases per 1 million live births, respectively. The incidence and prevalence of junctional epidermolysis bullosa were found to be 2.68 and 0.49 cases per 1 million live births, respectively. The incidence and prevalence of dominant dystrophic epidermolysis bullosa were found to be 2.12 and 1.49 cases per 1 million live births, respectively. The incidence and prevalence of recessive dystrophic epidermolysis bullosa were found to be 3.05 and 1.35 cases per 1 million live births, respectively.

• #4 Epidermolysis Bullosa: A Clinical Review and Update – The Dermatology Digest

  https://thedermdigest.com/epidermolysis-bullosa-a-clinical-review-and-update/

  A prospective cross-sectional study investigated the epidemiology of EB in the United States using data from more than 3,000 patients with EB contained within the National Institutes of Health National Epidermolysis Bullosa Registry (NEBR) between 1986 to 2002. In 2002, the prevalence of EB was 11.1 per 1 million live births. The incidence between 1986 and 2002 was 19.57 per 1 million live births. […] Despite many known causes of EB, new genetic causes and phenotypes continue to be uncovered.

• #5 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. […] Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. […] The incidence and point prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. […] The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized setup, indicating that EB might be more common than previously assumed. […] These epidemiological data help to understand the extensive need for (specialized) medical care of EB patients and is invaluable for the design and execution of therapeutic trials.

• #6 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  This study emphasizes the importance of thorough reporting systems and registries worldwide. […] Both the calculated incidence of 41.3 per million live births and point prevalence of 22.4 per million population are high compared to that reported in other countries, especially if the 26 patients with an EB-related skin fragility disorder would be included (incidence of 44.9 per million live births; point prevalence of 23.7 per million population). […] Our epidemiological data from the well-characterized Dutch EB cohort thus indicate that EB may be more common than considered so far.

• #7 In-Depth on Epidermolysis Bullosa (EB) | debra of America – Types, Symptoms & Treatments

  https://www.debra.org/about-eb/eb-depth

  EB affects 1 out of every 20,000 births in the United States (approximately 200 children a year are born with EB). […] Epidemiological data indicate that JEB is less common than simplex or dystrophic types of EB.

• #8 7 Major Markets Epidermolysis Bullosa Epidemiology Forecasts Report, 2020-2024 & 2034 – ResearchAndMarkets.com

  https://www.businesswire.com/news/home/20250418634521/en/7-Major-Markets-Epidermolysis-Bullosa-Epidemiology-Forecasts-Report-2020-2024-2034—ResearchAndMarkets.com

  The report delivers an in-depth understanding of Epidermolysis Bullosa, historical and forecasted epidemiology trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan. […] The total prevalent cases of Epidermolysis Bullosa in the 7MM comprised approximately 46,800 cases in 2023 and are projected to increase during the forecast period (2024-2034). […] The United States contributed to the largest prevalent cases of Epidermolysis Bullosa i.e., 31,000 cases of in 2023. […] Among EU4 countries in 2023, Germany had the highest prevalence of Epidermolysis Bullosa, followed by Italy. […] In Japan, the age group of >19 years accounted for the least number of cases i.e., around 400 cases in 2023. […] Epidermolysis Bullosa is slightly more prevalent in males than females, with approximately 14,000 cases reported in the US in 2023.

• #9 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  According to the National Epidermolysis Bullosa Registry, the prevalence of epidermolysis bullosa cases in Norway is 54 cases per million live births, in Japan is 7.8 cases per million live births, in Italy is 15.4 cases per million live births, in Australia is 10.3 cases per million live births, and in Croatia is 9.6 cases per million live births. […] Onset of epidermolysis bullosa is at birth or shortly after. The exception occurs in mild cases of epidermolysis bullosa simplex, which may remain undetected until adulthood or occasionally remain undiagnosed.

• #10 Epidemiological Characteristics of Inherited Epidermolysis Bullosa in an Eastern European Population

  https://www.mdpi.com/2077-0383/13/13/3742

  Epidermolysis bullosa (EB) is a hereditary condition characterized by skin and mucosal fragility, with various degrees of severity. This study’s objectives are to obtain updated epidemiological data that will help identify the specific types and subtypes of EB, determine the case distribution in Romania, and establish the incidence and prevalence of the condition. […] The point prevalence (the proportion of the population with a condition at a specific point in time) and the incidence of EB in Romania were 6.77 per million population and 24.23 per million live births, respectively. […] The most recent data regarding EB epidemiology in Romania comes from 2015, when it was estimated that the condition’s prevalence was 4.42 cases per 1 million people, and the incidence was 25 cases per 1 million newborns.

• #11 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  Epidermolysis bullosa (EB) defines a group of rare, inherited dermatoses that present with repeated blistering, erosions, and ulceration in response to seemingly disproportionate mechanical trauma. […] Approximately 70% of epidermolysis bullosa is epidermolysis bullosa simplex. Dystrophic epidermolysis bullosa accounts for around 25% of all cases, and junctional epidermolysis bullosa the remaining 5%. Kindler epidermolysis bullosa is notably the rarest of the 4 epidermolysis bullosa types, with only around 400 cases reported worldwide. […] Despite the challenges in formally diagnosing epidermolysis bullosa in resource-poor settings, robust epidemiological studies agree that epidermolysis bullosa prevalence is around 10 per one million population, with incidence at around 20 per one million live births.

• #12 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Approximately 70% of epidermolysis bullosa is epidermolysis bullosa simplex. Dystrophic epidermolysis bullosa accounts for around 25% of all cases, and junctional epidermolysis bullosa the remaining 5%. Kindler epidermolysis bullosa is notably the rarest of the 4 epidermolysis bullosa types, with only around 400 cases reported worldwide. […] Despite the challenges in formally diagnosing epidermolysis bullosa in resource-poor settings, robust epidemiological studies agree that epidermolysis bullosa prevalence is around 10 per one million population, with incidence at around 20 per one million live births. […] While epidermolysis bullosa appears not to be sex-preferential, trials conducted in Scottish and Middle Eastern populations suggest a geographically biased distribution; this is thought to be attributable to fewer germ lines within small geographical confines, and sociocultural influences where consanguineous marriage is more common.

• #13 Epidermolysis bullosa – Wikipedia

  https://en.wikipedia.org/wiki/Epidermolysis_bullosa

  Epidermolysis bullosa refers to a group of disorders that involve the formation of blisters following trivial trauma. […] An estimated 20 per million live births are diagnosed with EB, and 9 per million people in the general population have the condition. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Carrier frequency ranges from 1 in 333 for JEB, to 1 in 450 for DEB; the carrier frequency for EBS is presumed to be much higher than JEB or DEB. […] The disorder occurs in every racial and ethnic group and affects both sexes.

• #14 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. […] The United States National Epidermolysis Bullosa Registry found the overall incidence and prevalence of epidermolysis bullosa to be 19.6 and 11.07 cases per 1 million live births, respectively. The incidence and prevalence of epidermolysis bullosa simplex were found to be 7.87 and 6 cases per 1 million live births, respectively. The incidence and prevalence of junctional epidermolysis bullosa were found to be 2.68 and 0.49 cases per 1 million live births, respectively. The incidence and prevalence of dominant dystrophic epidermolysis bullosa were found to be 2.12 and 1.49 cases per 1 million live births, respectively. The incidence and prevalence of recessive dystrophic epidermolysis bullosa were found to be 3.05 and 1.35 cases per 1 million live births, respectively.

• #15 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. […] The United States National Epidermolysis Bullosa Registry found the overall incidence and prevalence of epidermolysis bullosa to be 19.6 and 11.07 cases per 1 million live births, respectively. The incidence and prevalence of epidermolysis bullosa simplex were found to be 7.87 and 6 cases per 1 million live births, respectively. The incidence and prevalence of junctional epidermolysis bullosa were found to be 2.68 and 0.49 cases per 1 million live births, respectively. The incidence and prevalence of dominant dystrophic epidermolysis bullosa were found to be 2.12 and 1.49 cases per 1 million live births, respectively. The incidence and prevalence of recessive dystrophic epidermolysis bullosa were found to be 3.05 and 1.35 cases per 1 million live births, respectively.

• #16 Epidermolysis bullosa simplex: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/epidermolysis-bullosa-simplex/

  The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The localized type is the most common form of the condition. […] Researchers have identified four major types of epidermolysis bullosa simplex. […] Several other variants of epidermolysis bullosa simplex have been proposed, but they appear to be very rare.

• #17 Dystrophic epidermolysis bullosa: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/dystrophic-epidermolysis-bullosa/

  Considered together, the prevalence of recessive and dominant dystrophic epidermolysis bullosa is estimated to be 3.3 per million people. […] Fine JD. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016 Nov 1;152(11):1231-1238. doi: 10.1001/jamadermatol.2016.2473. Citation on PubMed

• #18 Orphanet: Dystrophic epidermolysis bullosa

  https://www.orpha.net/en/disease/detail/303

  Dystrophic epidermolysis bullosa (DEB) comprises four major and several rare sub-types with the three most common being intermediate dominant DEB, severe recessive DEB and intermediate recessive DEB. […] DEB is the second most common form of EB, the first being EB simplex. Based on recent data, the prevalence in Europe ranges between 1/120,000-350,000. […] A regular follow-up with complete skin checks and biopsies is necessary for the surveillance of SCC development.

• #19 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. […] The United States National Epidermolysis Bullosa Registry found the overall incidence and prevalence of epidermolysis bullosa to be 19.6 and 11.07 cases per 1 million live births, respectively. The incidence and prevalence of epidermolysis bullosa simplex were found to be 7.87 and 6 cases per 1 million live births, respectively. The incidence and prevalence of junctional epidermolysis bullosa were found to be 2.68 and 0.49 cases per 1 million live births, respectively. The incidence and prevalence of dominant dystrophic epidermolysis bullosa were found to be 2.12 and 1.49 cases per 1 million live births, respectively. The incidence and prevalence of recessive dystrophic epidermolysis bullosa were found to be 3.05 and 1.35 cases per 1 million live births, respectively.

• #20 Epidermolysis bullosa: Where do we stand? – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/epidermolysis-bullosa-where-do-we-stand/

  Epidermolysis bullosa (EB) comprises a group of genetically determined skin fragility disorders, which are characterized by blistering of the skin and mucosa, in response to little or no apparent trauma. […] The most accurate epidemiological data are derived from the National EB registry project from USA and also from Scotland. According to the National EB registry project from USA, the incidence and prevalence of EB are estimated to be 19.60 per million live births and 8.22 per million population, respectively. The incidence and prevalence rates of EB simplex are 10.75 and 4.65, of junctional EB are 2.04 and 0.44, and dystrophic EB dominant type 2.86 and 0.99 and recessive dystrophic EB 2.04 and 0.92, respectively. Whereas, according to the epidemiological data from Scotland, the incidence of EBS in 2001 was 33.2 per million and the incidence between 1960 and 1999 was 34.4 per million live births. For junctional EB, the Scottish prevalence was 0.3 cases per million and an incidence of 3.2 new cases per million live births and for dystrophic EB, the prevalence is 24.6 cases per million and the incidence 26.4 new cases per million live births. But, the overall worldwide data suggests that there is no gender, racial, or geographical predilection of EB, although there is a possibility of underestimating the clinically milder forms of EB.

• #21 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Approximately 70% of epidermolysis bullosa is epidermolysis bullosa simplex. Dystrophic epidermolysis bullosa accounts for around 25% of all cases, and junctional epidermolysis bullosa the remaining 5%. Kindler epidermolysis bullosa is notably the rarest of the 4 epidermolysis bullosa types, with only around 400 cases reported worldwide. […] Despite the challenges in formally diagnosing epidermolysis bullosa in resource-poor settings, robust epidemiological studies agree that epidermolysis bullosa prevalence is around 10 per one million population, with incidence at around 20 per one million live births. […] While epidermolysis bullosa appears not to be sex-preferential, trials conducted in Scottish and Middle Eastern populations suggest a geographically biased distribution; this is thought to be attributable to fewer germ lines within small geographical confines, and sociocultural influences where consanguineous marriage is more common.

• #22 The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*. | EBSCOhost

  https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=00070963&AN=156658128&h=U5WfDWkI5nenph%2F9gbgiQ0D0hc2ALUr47CY3ILpu%2BTUvFSAwvKPKjevDOI%2B7MGnigbz5F3SEbsNlSNtheaslSA%3D%3D&crl=f

  The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*. […] Summary: Background: The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales. Objectives: To quantify prevalence, incidence and mortality of EB in England and Wales. Methods: Demographic data for patients in England and Wales were collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively for cases prior to 2002. Vital status was verified using central NHS data. Results: By March 2021, 2594 individuals were registered, of whom 2361 were living, which yielded a prevalence of 34·8 per million of the population for all EB types [EB simplex (EBS) 17 per million, dystrophic EB (DEB) 10·7 per million, junctional EB (JEB) 1 per million and Kindler EB 0·3 per million]. We recorded 1200 babies with EB born since 2002. The average incidence per million live births for EBS, DEB, JEB and Kindler EB was 32·5, 26·1, 8·9 and 0·9, respectively (total incidence for all types of EB was 67·8 per million). Birth rates fell progressively over the 19‐year period for JEB‐severe (JEB‐S) (r = −0·56) and recessive DEB‐severe (r = −0·44) and also for milder types of EB. We observed longer survival in JEB‐S over the 19‐year period (r2 = 0·18) with a median survival of 12·7 months over the past 5 years. Conclusions: In this study, we provide the first accurate epidemiological data for EB in England and Wales. We believe the observed reduction in birth incidence of severe types of EB reflects an uptake of genetic counselling advice, whereas the reduction in milder types may be due to delayed presentation. A potential small trend towards longer survival of babies with JEB‐S may reflect improved multidisciplinary care.

• #23 What is Epidermolysis Bullosa (EB)? – Paradigm Therapeutics

  https://www.paradigmtherapeutics.com/what-is-eb/

  EB is a genetic, inherited disease. When one or both parents carry the mutated gene, there is an increased risk of their offspring developing EB. […] Inherited EB is a global disease. The genetic mutations affect all racial and ethnic groups equally. EB affects both sexes equally. […] Based on data collected through the National Epidermolysis Bullosa Registry, EB is estimated to occur in 20 newborns per 1 million live births in the United States. […] The exact number of persons with EB is unclear, but estimates suggest the following in the different regions of the world: US: Estimate 20,000-50,000 current cases (comparable to Cystic Fibrosis)*, Europe: Estimate 50,000-80,000 current cases, Japan: Estimate 1,000-5,000 cases. […] Globally the prevalence is estimated to be in about 500,000 for patients with EB.**

• #24 Epidermolysis bullosa – Wikipedia

  https://en.wikipedia.org/wiki/Epidermolysis_bullosa

  Epidermolysis bullosa refers to a group of disorders that involve the formation of blisters following trivial trauma. […] An estimated 20 per million live births are diagnosed with EB, and 9 per million people in the general population have the condition. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Carrier frequency ranges from 1 in 333 for JEB, to 1 in 450 for DEB; the carrier frequency for EBS is presumed to be much higher than JEB or DEB. […] The disorder occurs in every racial and ethnic group and affects both sexes.

• #25 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  While epidermolysis bullosa appears not to be sex-preferential, trials conducted in Scottish and Middle Eastern populations suggest a geographically biased distribution; this is thought to be attributable to fewer germ lines within small geographical confines, and sociocultural influences where consanguineous marriage is more common.

• #26 Congenital Epidermolysis Bullosa Epidemiology among Children of Russian Federation

  https://ouci.dntb.gov.ua/en/works/lde1pD09/

  Background. The prevalence of all types of congenital epidermolysis bullosa (CEB) worldwide is approximately 11 cases per 1 million according to the latest data from the American Epidermolysis Bullosa Registry. […] This article presents medical and epidemiological data on children with CEB in Russian Federation. […] There are 491 children with CEB in Russian Federation as of 2024 according to the national registry data from “Registers of Genetic and Other Rare Diseases” of the “Butterfly Children” charitable foundation. The prevalence of CEB in children aged from 0 to 17 years in Russian Federation is 15.48 cases per 1,000,000 children as of January 1, 2024. […] The highest number of children with CEB were revealed in the Republic of Dagestan — 54 (11%) children, which is apparently due to the high rate of consanguineous marriages (50%).

• #27 Congenital Epidermolysis Bullosa Epidemiology among Children of Russian Federation

  https://ouci.dntb.gov.ua/en/works/lde1pD09/

  Background. The prevalence of all types of congenital epidermolysis bullosa (CEB) worldwide is approximately 11 cases per 1 million according to the latest data from the American Epidermolysis Bullosa Registry. […] This article presents medical and epidemiological data on children with CEB in Russian Federation. […] There are 491 children with CEB in Russian Federation as of 2024 according to the national registry data from “Registers of Genetic and Other Rare Diseases” of the “Butterfly Children” charitable foundation. The prevalence of CEB in children aged from 0 to 17 years in Russian Federation is 15.48 cases per 1,000,000 children as of January 1, 2024. […] The highest number of children with CEB were revealed in the Republic of Dagestan — 54 (11%) children, which is apparently due to the high rate of consanguineous marriages (50%).

• #28 Epidermolysis Bullosa: Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/909549-overview

  According to the National Epidermolysis Bullosa Registry, the prevalence of epidermolysis bullosa cases in Norway is 54 cases per million live births, in Japan is 7.8 cases per million live births, in Italy is 15.4 cases per million live births, in Australia is 10.3 cases per million live births, and in Croatia is 9.6 cases per million live births. […] Onset of epidermolysis bullosa is at birth or shortly after. The exception occurs in mild cases of epidermolysis bullosa simplex, which may remain undetected until adulthood or occasionally remain undiagnosed.

• #29 Epidermolysis Bullosa Care in Scandinavia | Plastic Surgery Key

  https://plasticsurgerykey.com/epidermolysis-bullosa-care-in-scandinavia/

  The recessive forms of epidermolysis bullosa (EB) are common in Scandinavia, especially in the northern parts of Norway and Sweden. […] The recessive forms of EB are relatively common in Scandinavia, especially in the northern parts of Norway and Sweden where a founder effect for LAMB3 gene mutation (R635X) causing JEB-Herlitz has been noted. […] It can be seen that the prevalence of JEB and recessive DEB (RDEB) is highest in Norway and Sweden, whereas the other EB subtypes seem to be more evenly distributed among the Nordic countries. […] The highest death rate is no doubt among patients with JEB-Herlitz of whom practically all babies die within 1 to 2 years, thus heavily reducing the prevalence of this EB subtype. […] However the incidence of this subtype and RDEB is increasing, particularly in Sweden receiving many immigrants from countries where cousin marriage is common.

• #30 Congenital Epidermolysis Bullosa Epidemiology among Children of Russian Federation

  https://ouci.dntb.gov.ua/en/works/lde1pD09/

  The birth rate of children with CEB by year during the period from 2019 to 2023 (per 100,000 children born): 2019 — 1.42, 2020 — 2.09, 2021 — 2.65, 2022 — 2.76 and 2023 — 1.74. […] The registry contains information on 22 deceased patients, average age was 3.06 ± 4.66 (from 0 to 15 years, median 0.54 years). […] Junctional CEB dominates in fatal outcomes among all the CEB types — 59.1% (n = 13 cases, 0.40 ± 0.22 years). […] The mortality trend in the junctional form of CEB shows a decline in mortality, while the dystrophic type shows a stable situation during 2021–2023 years — 2 fatal outcomes per year. […] This study demonstrates the significance and necessity to create and maintain registers for rare (orphan) diseases.

• #31 Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2781

  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. 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). This is the first retrospective study of RDEB-SCC in Australasia. The prevalence of EB in Australia according to the Australasian EB registry (AEBR) is approximately 10.3 per million. At least one SCC was diagnosed in 35.4% (17/48) of RDEB patients. The earliest age of SCC onset within RDEB population was at 16 years, and the latest was at 62 years. The median age of SCC onset was 30 years. The RDEB-GS variant was the most prevalent subtype with SCC development, accounting for 64.7% (11/17) with a median age of SCC onset at 23 years. The cumulative risk of developing at least one SCC for RDEB-GI was 10% by the age of 35 and increased to 66.7% by the age of 65 (median time to risk: 39 years). For RDEB-GS, 26.3% developed at least one SCC by the age of 20, and 76.1% developed SCC by the age of 35 (median time to risk: 29 years). The cumulative risks of SCC-related death in RDEB-GI patients with SCC were 16.6% and 66.6% at age 35 and 52, respectively (median survival: 51 years). The cumulative risks of SCC-related death in RDEB-GS were 30% and 84.4% at age 25 and 34, respectively (median: 29 years). This study is the first epidemiological study of SCC in EB in Australia and New Zealand. We highlighted that the cumulative risk of SCC development and associated death from SCC metastasis in Australasian cohort were much higher than the NEBR data.

• #32 Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2781

  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. 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). This is the first retrospective study of RDEB-SCC in Australasia. The prevalence of EB in Australia according to the Australasian EB registry (AEBR) is approximately 10.3 per million. At least one SCC was diagnosed in 35.4% (17/48) of RDEB patients. The earliest age of SCC onset within RDEB population was at 16 years, and the latest was at 62 years. The median age of SCC onset was 30 years. The RDEB-GS variant was the most prevalent subtype with SCC development, accounting for 64.7% (11/17) with a median age of SCC onset at 23 years. The cumulative risk of developing at least one SCC for RDEB-GI was 10% by the age of 35 and increased to 66.7% by the age of 65 (median time to risk: 39 years). For RDEB-GS, 26.3% developed at least one SCC by the age of 20, and 76.1% developed SCC by the age of 35 (median time to risk: 29 years). The cumulative risks of SCC-related death in RDEB-GI patients with SCC were 16.6% and 66.6% at age 35 and 52, respectively (median survival: 51 years). The cumulative risks of SCC-related death in RDEB-GS were 30% and 84.4% at age 25 and 34, respectively (median: 29 years). This study is the first epidemiological study of SCC in EB in Australia and New Zealand. We highlighted that the cumulative risk of SCC development and associated death from SCC metastasis in Australasian cohort were much higher than the NEBR data.

• #33 Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2781

  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. 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). This is the first retrospective study of RDEB-SCC in Australasia. The prevalence of EB in Australia according to the Australasian EB registry (AEBR) is approximately 10.3 per million. At least one SCC was diagnosed in 35.4% (17/48) of RDEB patients. The earliest age of SCC onset within RDEB population was at 16 years, and the latest was at 62 years. The median age of SCC onset was 30 years. The RDEB-GS variant was the most prevalent subtype with SCC development, accounting for 64.7% (11/17) with a median age of SCC onset at 23 years. The cumulative risk of developing at least one SCC for RDEB-GI was 10% by the age of 35 and increased to 66.7% by the age of 65 (median time to risk: 39 years). For RDEB-GS, 26.3% developed at least one SCC by the age of 20, and 76.1% developed SCC by the age of 35 (median time to risk: 29 years). The cumulative risks of SCC-related death in RDEB-GI patients with SCC were 16.6% and 66.6% at age 35 and 52, respectively (median survival: 51 years). The cumulative risks of SCC-related death in RDEB-GS were 30% and 84.4% at age 25 and 34, respectively (median: 29 years). This study is the first epidemiological study of SCC in EB in Australia and New Zealand. We highlighted that the cumulative risk of SCC development and associated death from SCC metastasis in Australasian cohort were much higher than the NEBR data.

• #34 Epidermolysis Bullosa | Doctor

  https://patient.info/doctor/epidermolysis-bullosa-pro

  Population studies are complicated by the fact that this is not a uniform disease but a wide number of diseases of varying severity. It is likely that many patients with the more mild forms of EB remain undiagnosed. […] It is thought to affect 1 in 17,000 births. Around 5,000 people are affected in the UK. […] Males and females are equally affected.

• #35 Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source Capture–Recapture Method. Evidence of a Need for Improvement in Care | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-prevalence-dystrophic-epidermolysis-bullosa-in-articulo-S1578219013002515

  Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source CaptureRecapture Method. Evidence of a Need for Improvement in Care. Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain. To determine the prevalence of DEB in Spain. We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology. We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA. The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries.

• #36 Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source Capture–Recapture Method. Evidence of a Need for Improvement in Care | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-prevalence-dystrophic-epidermolysis-bullosa-in-articulo-S1578219013002515

  Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patient associations, suggesting that there is substantial room for improvement in their care. […] According to the results of our study, 77% of the patients are not being seen in centers of reference, 76% are not members of DEBRA Spain, and the majority of patients (65%) have not had an advanced laboratory diagnosis. This last finding may reflect the fact that genetic diagnosis has only been available in Spain since 2007. These results suggest that care for DEB patients could be much improved through the creation of an official network that would provide these patients with clinical care in centers of reference, routine non-molecular and molecular laboratory testing, social support through an association such as DEBRA, and overall institutional support.

• #37 Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source Capture–Recapture Method. Evidence of a Need for Improvement in Care | Actas Dermo-Sifiliográficas

  https://actasdermo.org/es-prevalence-dystrophic-epidermolysis-bullosa-in-articulo-S0001731013001853

  The capturerecapture method was developed to merge data from different incomplete lists (e.g., incomplete registries) and to obtain an improved overall estimate of the total number of subjects, including those who are not on any of the lists, based on how much the different lists overlap. […] Using the capturerecapture method we estimated the prevalence of DEB in Spain to be 6.0 cases per million in the overall population and 15.3 cases per million in children under 18 years of age. These estimated rates are higher than most previous prevalence reports. […] According to the results of our study, 77% of the patients are not being seen in centers of reference, 76% are not members of DEBRA Spain, and the majority of patients (65%) have not had an advanced laboratory diagnosis. This last finding may reflect the fact that genetic diagnosis has only been available in Spain since 2007. These results suggest that care for DEB patients could be much improved through the creation of an official network that would provide these patients with clinical care in centers of reference, routine non-molecular and molecular laboratory testing, social support through an association such as DEBRA, and overall institutional support.

• #38 A case of a patient with severe epidermolysis bullosa surviving to adu | IJGM

  https://www.dovepress.com/a-case-of-a-patient-with-severe-epidermolysis-bullosa-surviving-to-adu-peer-reviewed-fulltext-article-IJGM

  EB is a chronic, recurrent, disfiguring, and painful inherited connective tissue disease. The severe type can be challenging and difficult to manage; hence, it can dramatically affect the patients quality of life. Patients with EB need special ongoing care, frequent dressings, and a multidisciplinary approach, including a dermatologist, pediatrician and/or neonatologist or internist, anesthetist, pathologist, medical geneticist, pain specialist, specialized nurses, and psychiatrist or psychologist. In addition, an ophthalmologist, gastroenterologist, dentist, otolaryngologist, and endocrinologist may be part of the team. Lifelong follow-up is required. […] Diagnosis can be clinical, if there is a well-known informative family history. Otherwise, a skin biopsy examination is necessary, including immunofluorescent antigen mapping, transmission electron microscopy, and genetic analysis (molecular or DNA diagnosis).

• #39 Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01403-x

  Users of these recommendations will be dermatologists, neonatologists, pediatricians, general practitioners, acute physicians, anesthesiologists, gastroenterologists, tracheolaryngologists, urologists and ophthalmologists, nurses, and people living with EB and their families. […] The consensus recommendation development group consisted of dermatologists and pediatric dermatologists, who are healthcare provider representatives of the European Reference Network-Skin (ERN-skin, https://ern-skin.eu) and the multidisciplinary team members they coordinate. […] To identify relevant articles in the literature, a search of NCBI PubMed was performed using the terms epidermolysis bullosa and emergency with the search period ending in August 2019. […] In view of the paucity of available papers, which consisted predominantly of non-evidence-based expert opinion and case reports, the recommendations presented here are largely based on the daily clinical practice in the authors expert centers, developed with the assistance of other members of their multidisciplinary teams.

• #40 Clinical Characteristics and Outcomes of Patients Hospitalized with Epidermolysis Bullosa: A Retrospective Population-Based Observational Study in Spain (2016–2021)

  https://www.mdpi.com/2227-9059/11/9/2584

  Epidermolysis bullosa (EB) comprises a heterogeneous group of monogenic skin diseases. There are notable disparities in the estimated prevalence and incidence rates of EB among various populations. In the United States, the prevalence of EB is 11.1 per 1 million live births, with an incidence rate of 19.57 per 1 million live births. Prevalence and incidence values are 15.4 and 20.1 per 1 million live births, respectively, in Italy and 5.6–7.8 and 3.8 per 1 million live births in Japan. Unfortunately, the epidemiological indices of EB in Spain are not well known, although data on the prevalence of DEB suggest a rate of six per 1 million live births. […] Given the rarity of EB, conducting studies with sufficient sample sizes is challenging, thus limiting our understanding of epidemiological patterns and hospital outcomes across all age groups. Accurate epidemiological data are crucial if we are to understand this disease and can help us to select specialized medical care, assess the cost burden, and optimize resource allocation and funding.

• #41 Epidemiology of Epidermolysis Bullosa in the UK | CPRD

  https://www.cprd.com/approved-studies/epidemiology-epidermolysis-bullosa-uk

  Epidermolysis Bullosa (EB) is a group of rare inherited skin disorders that cause the skin to become fragile and form blisters. It is usually diagnosed in babies and young children and in severe cases, can lead to early death. Little is known about how many people live with EB and how they are treated in the UK. […] The size and characteristics of the population in the UK who have EB is not well understood. Similarly, relatively little is known about the clinical pathways and treatments these patients receive to manage the symptoms of EB. […] The study findings will benefit patients in the UK by filling a knowledge gap on the prevalence of different types of EB and treatment patterns and outcomes in affected individuals by highlighting the costs of managing and treating EB to the NHS. […] Clinical outcomes: -Incidence and prevalence of EB in the UK -Mortality and survival of patients with EB -Rate of EB-related comorbidities.

• #42 Congenital Epidermolysis Bullosa Epidemiology among Children of Russian Federation

  https://ouci.dntb.gov.ua/en/works/lde1pD09/

  The birth rate of children with CEB by year during the period from 2019 to 2023 (per 100,000 children born): 2019 — 1.42, 2020 — 2.09, 2021 — 2.65, 2022 — 2.76 and 2023 — 1.74. […] The registry contains information on 22 deceased patients, average age was 3.06 ± 4.66 (from 0 to 15 years, median 0.54 years). […] Junctional CEB dominates in fatal outcomes among all the CEB types — 59.1% (n = 13 cases, 0.40 ± 0.22 years). […] The mortality trend in the junctional form of CEB shows a decline in mortality, while the dystrophic type shows a stable situation during 2021–2023 years — 2 fatal outcomes per year. […] This study demonstrates the significance and necessity to create and maintain registers for rare (orphan) diseases.

• #43 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  This study emphasizes the importance of thorough reporting systems and registries worldwide. […] Both the calculated incidence of 41.3 per million live births and point prevalence of 22.4 per million population are high compared to that reported in other countries, especially if the 26 patients with an EB-related skin fragility disorder would be included (incidence of 44.9 per million live births; point prevalence of 23.7 per million population). […] Our epidemiological data from the well-characterized Dutch EB cohort thus indicate that EB may be more common than considered so far.

• #44 Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01403-x

  Users of these recommendations will be dermatologists, neonatologists, pediatricians, general practitioners, acute physicians, anesthesiologists, gastroenterologists, tracheolaryngologists, urologists and ophthalmologists, nurses, and people living with EB and their families. […] The consensus recommendation development group consisted of dermatologists and pediatric dermatologists, who are healthcare provider representatives of the European Reference Network-Skin (ERN-skin, https://ern-skin.eu) and the multidisciplinary team members they coordinate. […] To identify relevant articles in the literature, a search of NCBI PubMed was performed using the terms epidermolysis bullosa and emergency with the search period ending in August 2019. […] In view of the paucity of available papers, which consisted predominantly of non-evidence-based expert opinion and case reports, the recommendations presented here are largely based on the daily clinical practice in the authors expert centers, developed with the assistance of other members of their multidisciplinary teams.

• #45 Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01403-x

  The urgent nature of these complications means that it is often not possible to provide the required care in an EB reference center but the recommendations presented here should assist the non-specialist to deal safely and appropriately with emergency situations in EB until advice and/or treatment can be sought from the patients EB care team.

• #46 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. […] Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. […] The incidence and point prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. […] The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized setup, indicating that EB might be more common than previously assumed. […] These epidemiological data help to understand the extensive need for (specialized) medical care of EB patients and is invaluable for the design and execution of therapeutic trials.

• #47 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  This study emphasizes the importance of thorough reporting systems and registries worldwide. […] Both the calculated incidence of 41.3 per million live births and point prevalence of 22.4 per million population are high compared to that reported in other countries, especially if the 26 patients with an EB-related skin fragility disorder would be included (incidence of 44.9 per million live births; point prevalence of 23.7 per million population). […] Our epidemiological data from the well-characterized Dutch EB cohort thus indicate that EB may be more common than considered so far.

• #48 The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*. | EBSCOhost

  https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=00070963&AN=156658128&h=U5WfDWkI5nenph%2F9gbgiQ0D0hc2ALUr47CY3ILpu%2BTUvFSAwvKPKjevDOI%2B7MGnigbz5F3SEbsNlSNtheaslSA%3D%3D&crl=f

  The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*. […] Summary: Background: The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales. Objectives: To quantify prevalence, incidence and mortality of EB in England and Wales. Methods: Demographic data for patients in England and Wales were collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively for cases prior to 2002. Vital status was verified using central NHS data. Results: By March 2021, 2594 individuals were registered, of whom 2361 were living, which yielded a prevalence of 34·8 per million of the population for all EB types [EB simplex (EBS) 17 per million, dystrophic EB (DEB) 10·7 per million, junctional EB (JEB) 1 per million and Kindler EB 0·3 per million]. We recorded 1200 babies with EB born since 2002. The average incidence per million live births for EBS, DEB, JEB and Kindler EB was 32·5, 26·1, 8·9 and 0·9, respectively (total incidence for all types of EB was 67·8 per million). Birth rates fell progressively over the 19‐year period for JEB‐severe (JEB‐S) (r = −0·56) and recessive DEB‐severe (r = −0·44) and also for milder types of EB. We observed longer survival in JEB‐S over the 19‐year period (r2 = 0·18) with a median survival of 12·7 months over the past 5 years. Conclusions: In this study, we provide the first accurate epidemiological data for EB in England and Wales. We believe the observed reduction in birth incidence of severe types of EB reflects an uptake of genetic counselling advice, whereas the reduction in milder types may be due to delayed presentation. A potential small trend towards longer survival of babies with JEB‐S may reflect improved multidisciplinary care.

• #49 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. […] Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. […] The incidence and point prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. […] The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized setup, indicating that EB might be more common than previously assumed. […] These epidemiological data help to understand the extensive need for (specialized) medical care of EB patients and is invaluable for the design and execution of therapeutic trials.

• #50 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  According to Paller, researchers and clinicians are employing panels of 28 genes that can be involved in disorders in which blistering is present in the skin of newborns. […] Preclinical or clinical testing of gene therapies (gene replacement, gene editing, RNA-based therapy, natural gene therapy), cell-based therapies (fibroblasts, bone marrow transplantation, mesenchymal stromal cells, induced pluripotential stem cells), recombinant protein therapies, and small molecule and drug repurposing approaches are all being currently explored. […] Ongoing research has led to an increasing number of budding treatment avenues, most of which are still in clinical trials, including topical, oral, and injection modalities. […] In May, the FDA approved Krystal Biotechs beremagene geperpavec (B-VEC; Vyjuvek) for the treatment of DEB.

• #51 Epidermolysis Bullosa – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/bullous-diseases/epidermolysis-bullosa

  Epidermolysis bullosa occurs in 20/million live births (1). There is no gender predilection. […] Epidermolysis bullosa is a group of inherited disorders that involve various genetic mutations. […] Epidermolysis bullosa is suspected based on clinical presentation. Family history may indicate the mode of inheritance and thus the possible type: autosomal dominant inheritance (epidermolysis bullosa simplex, dystrophic epidermolysis bullosa) or autosomal recessive inheritance (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, rarely epidermolysis bullosa simplex). […] Diagnosis of specific types and subtypes is based on family history, biopsy and immunofluorescence testing or transmission electron microscopy of a freshly induced blister (not from the palms or soles), and gene mutation analysis of a blood sample. […] Genetic testing is usually done to confirm specific disease type and guide genetic counseling. […] Treatment of epidermolysis bullosa is symptomatic; multidisciplinary specialization may likely be needed for both severe and chronic disease (1).

• #52 Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3843

  Epidermolysis bullosa encompasses a group of inherited blistering skin disorders. The worldwide incidence and point-prevalence of EB are 1.4-1.3 per million live births and 2.8-4.0 per million population, respectively. The detection rate of pathogenic genes and mutations in 57 Chinese patients with epidermolysis bullosa in this study was 100% by whole-exome sequencing. This study emphasized the advantage of WES for accurate diagnosis of patients with EB, and could serve as the basis for future genetic studies on a large-scale to identify and understand EB. In conclusion, comprehensive WES analysis was performed in a cohort of 44 pedigrees and 13 sporadic cases with EB in the Han Chinese population and identified 52 mutations with a percentage of 100%, indicating the power of NGS in diagnosing and classifying EB. […] According to the data from different laboratories worldwide, SS has been used to determine that 75-90% of patients with EB carry the responsible mutations. A targeted NGS multi-gene panel and WES have been used to detect mutations underlying EB, with a discovery percentage ranging from 84% to 100%.

• #53 A case of a patient with severe epidermolysis bullosa surviving to adu | IJGM

  https://www.dovepress.com/a-case-of-a-patient-with-severe-epidermolysis-bullosa-surviving-to-adu-peer-reviewed-fulltext-article-IJGM

  EB is a chronic, recurrent, disfiguring, and painful inherited connective tissue disease. The severe type can be challenging and difficult to manage; hence, it can dramatically affect the patients quality of life. Patients with EB need special ongoing care, frequent dressings, and a multidisciplinary approach, including a dermatologist, pediatrician and/or neonatologist or internist, anesthetist, pathologist, medical geneticist, pain specialist, specialized nurses, and psychiatrist or psychologist. In addition, an ophthalmologist, gastroenterologist, dentist, otolaryngologist, and endocrinologist may be part of the team. Lifelong follow-up is required. […] Diagnosis can be clinical, if there is a well-known informative family history. Otherwise, a skin biopsy examination is necessary, including immunofluorescent antigen mapping, transmission electron microscopy, and genetic analysis (molecular or DNA diagnosis).

• #54 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  According to Paller, researchers and clinicians are employing panels of 28 genes that can be involved in disorders in which blistering is present in the skin of newborns. […] Preclinical or clinical testing of gene therapies (gene replacement, gene editing, RNA-based therapy, natural gene therapy), cell-based therapies (fibroblasts, bone marrow transplantation, mesenchymal stromal cells, induced pluripotential stem cells), recombinant protein therapies, and small molecule and drug repurposing approaches are all being currently explored. […] Ongoing research has led to an increasing number of budding treatment avenues, most of which are still in clinical trials, including topical, oral, and injection modalities. […] In May, the FDA approved Krystal Biotechs beremagene geperpavec (B-VEC; Vyjuvek) for the treatment of DEB.

• #55 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  According to Paller, researchers and clinicians are employing panels of 28 genes that can be involved in disorders in which blistering is present in the skin of newborns. […] Preclinical or clinical testing of gene therapies (gene replacement, gene editing, RNA-based therapy, natural gene therapy), cell-based therapies (fibroblasts, bone marrow transplantation, mesenchymal stromal cells, induced pluripotential stem cells), recombinant protein therapies, and small molecule and drug repurposing approaches are all being currently explored. […] Ongoing research has led to an increasing number of budding treatment avenues, most of which are still in clinical trials, including topical, oral, and injection modalities. […] In May, the FDA approved Krystal Biotechs beremagene geperpavec (B-VEC; Vyjuvek) for the treatment of DEB.

• #56 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  According to Paller, researchers and clinicians are employing panels of 28 genes that can be involved in disorders in which blistering is present in the skin of newborns. […] Preclinical or clinical testing of gene therapies (gene replacement, gene editing, RNA-based therapy, natural gene therapy), cell-based therapies (fibroblasts, bone marrow transplantation, mesenchymal stromal cells, induced pluripotential stem cells), recombinant protein therapies, and small molecule and drug repurposing approaches are all being currently explored. […] Ongoing research has led to an increasing number of budding treatment avenues, most of which are still in clinical trials, including topical, oral, and injection modalities. […] In May, the FDA approved Krystal Biotechs beremagene geperpavec (B-VEC; Vyjuvek) for the treatment of DEB.

• #57 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  Oleogel-S10 (Filsuvez) is also showing promise in patients with JEB and DEB. […] Another therapy being investigated in clinical trials is EB-101, consisting of a correct copy of the COL7A1 gene packaged into a retrovirus, which is used to transfer it into the patients keratinocytes that were cultured and grown ex vivo. […] Other gene therapies in development for recessive DEB include gene-corrected fibroblasts from the patient. […] The systemic administration of the broad-spectrum antibiotic gentamicin has also been investigated in clinical trial in infants with recessive DEB and generalized JEB, the results of which showed a positive impact on skin fragility. […] Drug repurposing in EB has also been explored with dupilumab (Dupixent), an FDA-approved agent for atopic dermatitis. […] Paller said if all goes well, the next few years may be witness to several effective treatments, which is a very promising outlook for a disease that largely could only be treated symptomatically.

• #58 New Hope for Treating the 4 Main Types of Epidermolysis Bullosa

  https://www.dermatologytimes.com/view/new-hope-for-treating-the-4-main-types-of-epidermolysis-bullosa

  Oleogel-S10 (Filsuvez) is also showing promise in patients with JEB and DEB. […] Another therapy being investigated in clinical trials is EB-101, consisting of a correct copy of the COL7A1 gene packaged into a retrovirus, which is used to transfer it into the patients keratinocytes that were cultured and grown ex vivo. […] Other gene therapies in development for recessive DEB include gene-corrected fibroblasts from the patient. […] The systemic administration of the broad-spectrum antibiotic gentamicin has also been investigated in clinical trial in infants with recessive DEB and generalized JEB, the results of which showed a positive impact on skin fragility. […] Drug repurposing in EB has also been explored with dupilumab (Dupixent), an FDA-approved agent for atopic dermatitis. […] Paller said if all goes well, the next few years may be witness to several effective treatments, which is a very promising outlook for a disease that largely could only be treated symptomatically.

• #59 Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. | Read by QxMD

  https://read.qxmd.com/read/27463098/epidemiology-of-inherited-epidermolysis-bullosa-based-on-incidence-and-prevalence-estimates-from-the-national-epidermolysis-bullosa-registry

  IMPORTANCE: Accurate estimation of the incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical trials can be designed and sufficient funding allocated by government agencies and third-party insurers for the care of these individuals. […] RESULTS: During the first 5 years of funding of the registry, the overall incidence and prevalence of inherited EB were 19.60 and 8.22 per 1 million live births, respectively. When reassessed over the entire 16 years of the study, the prevalence rose to 11.07, whereas the overall incidence remained unchanged at 19.57 cases. […] CONCLUSIONS AND RELEVANCE: Precise estimates of the incidence and prevalence of each major subtype of inherited EB in the United States are now available that should assist investigators in choosing which subtypes are amenable to properly designed, large-scale, clinical trials.

• #60 Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. | Read by QxMD

  https://read.qxmd.com/read/27463098/epidemiology-of-inherited-epidermolysis-bullosa-based-on-incidence-and-prevalence-estimates-from-the-national-epidermolysis-bullosa-registry

  IMPORTANCE: Accurate estimation of the incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical trials can be designed and sufficient funding allocated by government agencies and third-party insurers for the care of these individuals. […] RESULTS: During the first 5 years of funding of the registry, the overall incidence and prevalence of inherited EB were 19.60 and 8.22 per 1 million live births, respectively. When reassessed over the entire 16 years of the study, the prevalence rose to 11.07, whereas the overall incidence remained unchanged at 19.57 cases. […] CONCLUSIONS AND RELEVANCE: Precise estimates of the incidence and prevalence of each major subtype of inherited EB in the United States are now available that should assist investigators in choosing which subtypes are amenable to properly designed, large-scale, clinical trials.

• #61 Epidermolysis bullosa: Epidemiology, pathogenesis, classification, and clinical features – UpToDate

  https://www.uptodate.com/contents/epidemiology-pathogenesis-classification-and-clinical-features-of-epidermolysis-bullosa

  Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous inherited skin fragility disorder characterized by disruption of the skin’s structure at the dermoepidermal junction or in the basal layer of the epidermis, resulting in increased cutaneous vulnerability to mechanical stress. […] The epidemiology, pathogenesis, and clinical features of EB are discussed in this topic. […] EB, and particularly its more severe variants, carries a considerable societal burden that affects patients, caregivers, and health care providers.

• #62 Top Published Expert Doctors for Epidermolysis Bullosa

  https://www.findexpertmd.com/d/Epidermolysis_Bullosa

  356 top medical experts on Epidermolysis Bullosa across 58 countries and 27 U.S. states, including 176 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 111 including 12 Active, 37 Completed, 19 Recruiting.

• #63 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  This study emphasizes the importance of thorough reporting systems and registries worldwide. […] Both the calculated incidence of 41.3 per million live births and point prevalence of 22.4 per million population are high compared to that reported in other countries, especially if the 26 patients with an EB-related skin fragility disorder would be included (incidence of 44.9 per million live births; point prevalence of 23.7 per million population). […] Our epidemiological data from the well-characterized Dutch EB cohort thus indicate that EB may be more common than considered so far.

• #64 The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*. | EBSCOhost

  https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=00070963&AN=156658128&h=U5WfDWkI5nenph%2F9gbgiQ0D0hc2ALUr47CY3ILpu%2BTUvFSAwvKPKjevDOI%2B7MGnigbz5F3SEbsNlSNtheaslSA%3D%3D&crl=f

  The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*. […] Summary: Background: The National Health Service (NHS) epidermolysis bullosa (EB) service, established in 2002, offers comprehensive, free care to all patients in England and Wales. Objectives: To quantify prevalence, incidence and mortality of EB in England and Wales. Methods: Demographic data for patients in England and Wales were collected on a secure electronic database, prospectively from January 2002 to April 2021 and retrospectively for cases prior to 2002. Vital status was verified using central NHS data. Results: By March 2021, 2594 individuals were registered, of whom 2361 were living, which yielded a prevalence of 34·8 per million of the population for all EB types [EB simplex (EBS) 17 per million, dystrophic EB (DEB) 10·7 per million, junctional EB (JEB) 1 per million and Kindler EB 0·3 per million]. We recorded 1200 babies with EB born since 2002. The average incidence per million live births for EBS, DEB, JEB and Kindler EB was 32·5, 26·1, 8·9 and 0·9, respectively (total incidence for all types of EB was 67·8 per million). Birth rates fell progressively over the 19‐year period for JEB‐severe (JEB‐S) (r = −0·56) and recessive DEB‐severe (r = −0·44) and also for milder types of EB. We observed longer survival in JEB‐S over the 19‐year period (r2 = 0·18) with a median survival of 12·7 months over the past 5 years. Conclusions: In this study, we provide the first accurate epidemiological data for EB in England and Wales. We believe the observed reduction in birth incidence of severe types of EB reflects an uptake of genetic counselling advice, whereas the reduction in milder types may be due to delayed presentation. A potential small trend towards longer survival of babies with JEB‐S may reflect improved multidisciplinary care.

• #65 Epidermolysis bullosa – Wikipedia

  https://en.wikipedia.org/wiki/Epidermolysis_bullosa

  Epidermolysis bullosa refers to a group of disorders that involve the formation of blisters following trivial trauma. […] An estimated 20 per million live births are diagnosed with EB, and 9 per million people in the general population have the condition. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Carrier frequency ranges from 1 in 333 for JEB, to 1 in 450 for DEB; the carrier frequency for EBS is presumed to be much higher than JEB or DEB. […] The disorder occurs in every racial and ethnic group and affects both sexes.

• #66 Epidermolysis Bullosa | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/158627

  Approximately 70% of epidermolysis bullosa is epidermolysis bullosa simplex. Dystrophic epidermolysis bullosa accounts for around 25% of all cases, and junctional epidermolysis bullosa the remaining 5%. Kindler epidermolysis bullosa is notably the rarest of the 4 epidermolysis bullosa types, with only around 400 cases reported worldwide. […] Despite the challenges in formally diagnosing epidermolysis bullosa in resource-poor settings, robust epidemiological studies agree that epidermolysis bullosa prevalence is around 10 per one million population, with incidence at around 20 per one million live births. […] While epidermolysis bullosa appears not to be sex-preferential, trials conducted in Scottish and Middle Eastern populations suggest a geographically biased distribution; this is thought to be attributable to fewer germ lines within small geographical confines, and sociocultural influences where consanguineous marriage is more common.

• #67 Epidermolysis Bullosa – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599531/

  While epidermolysis bullosa appears not to be sex-preferential, trials conducted in Scottish and Middle Eastern populations suggest a geographically biased distribution; this is thought to be attributable to fewer germ lines within small geographical confines, and sociocultural influences where consanguineous marriage is more common.

• #68 Epidermolysis bullosa – Wikipedia

  https://en.wikipedia.org/wiki/Epidermolysis_bullosa

  Epidermolysis bullosa refers to a group of disorders that involve the formation of blisters following trivial trauma. […] An estimated 20 per million live births are diagnosed with EB, and 9 per million people in the general population have the condition. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Carrier frequency ranges from 1 in 333 for JEB, to 1 in 450 for DEB; the carrier frequency for EBS is presumed to be much higher than JEB or DEB. […] The disorder occurs in every racial and ethnic group and affects both sexes.

• #69 Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7984089/

  Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. […] Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. […] The incidence and point prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. […] The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized setup, indicating that EB might be more common than previously assumed. […] These epidemiological data help to understand the extensive need for (specialized) medical care of EB patients and is invaluable for the design and execution of therapeutic trials.

• #70 Clinical Characteristics and Outcomes of Patients Hospitalized with Epidermolysis Bullosa: A Retrospective Population-Based Observational Study in Spain (2016–2021)

  https://www.mdpi.com/2227-9059/11/9/2584

  Overall, our study emphasizes the importance of accurate epidemiological data when investigating rare diseases such as EB, identifying associated comorbidities, and optimizing medical care. It also underscores the need for early detection of complications, such as CSCC and other malignant neoplasms, and the implementation of preventive measures to improve the quality of life and prognosis of EB patients.

• #71 Congenital Epidermolysis Bullosa Epidemiology among Children of Russian Federation

  https://ouci.dntb.gov.ua/en/works/lde1pD09/

  The birth rate of children with CEB by year during the period from 2019 to 2023 (per 100,000 children born): 2019 — 1.42, 2020 — 2.09, 2021 — 2.65, 2022 — 2.76 and 2023 — 1.74. […] The registry contains information on 22 deceased patients, average age was 3.06 ± 4.66 (from 0 to 15 years, median 0.54 years). […] Junctional CEB dominates in fatal outcomes among all the CEB types — 59.1% (n = 13 cases, 0.40 ± 0.22 years). […] The mortality trend in the junctional form of CEB shows a decline in mortality, while the dystrophic type shows a stable situation during 2021–2023 years — 2 fatal outcomes per year. […] This study demonstrates the significance and necessity to create and maintain registers for rare (orphan) diseases.

• #72 Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01403-x

  The urgent nature of these complications means that it is often not possible to provide the required care in an EB reference center but the recommendations presented here should assist the non-specialist to deal safely and appropriately with emergency situations in EB until advice and/or treatment can be sought from the patients EB care team.

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