In people with eb, blisters form in response to minor injuries or friction, such as. Epidermolysis bullosa eb represents a group of inherited disorders with blister formation in response to mechanical trauma. Findings of the national epidermolysis bullosa registry 1st edition the johns hopkins. Dystrophic eb deb can be either dominant or recessive but all forms are caused by mutations in the collagen 7a1 gene. The blisters may appear in response to minor injury, even from heat, rubbing, scratching. The collagen 7 protein is a major part of what are known as anchoring fibrils, which are responsible for attaching the dermis and epidermis to each other. The registry contains all deb patients who have been published in the medical literature together with their col7a1 genotypes and molecular phenotypes i. May 09, 2018 epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen vii, a specialized adhesion component of the dermalepidermal junction zone. Apr 02, 2020 a registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. Dystrophic epidermolysis bullosanovel insights into the. Some patients also develop blisters and sores inside the body, such as in the mouth or. The deficiency andor dysfunction of type vii collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable.
Minimum data set for a global eb registry informed consent of patient form 1. There are two major subtypes, dominant deb ddeb and recessive deb. Mutation analysis and characterization of col7a1 mutations in dystrophic epidermolysis bullosa. Sep 29, 2015 a registry supports research by collecting of information about patients that share something in common, such as being diagnosed with dystrophic epidermolysis bullosa. Risk of extracutaneous complications, resulting from recurrent blistering or scarring of. Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases rd, to improve patient care and healthcare planning. Epidermolysis bullosa eb is a group of genetic skin diseases that cause the skin to blister and erode very easily. This international deb register is the result of the fruitful collaboration between the international dystrophic epidermolysis bullosa patient registry and the col7a1 variant database. Furthermore, the structural weakness of eb skin may contribute directly to cancers which have already developed being able to spread. Revertant mosaicism due to a secondsite mutation in col7a1 in a patient with recessive dystrophic epidermolysis bullosa. These may occur anywhere on the body but most commonly appear.
Dystrophic epidermolysis bullosa research association 5 west 36th street, room 404 new york, n. Epidermolysis bullosa is classified into four major categories. International dystrophic eb patient registry the international registry of dystrophic epidermolysis bullosa deb patients and associated col7a1 mutations. Eb is subclassified by the ultrastructural level within which blisters arise in the skin, clinical phenotype, and genotype. Any trauma or friction to the skin can cause painful blisters.
There are three major types of eb, each affecting one of these layers. To characterize the patient reported outcomes and quality of life qol in rdeb patients. The purpose of this article is to summarize the dystrophic epidermolysis bullosa research association debra international evidencebased clinical practice guidelines cpgs for the provision of occupational therapy ot for children and adults living with inherited epidermolysis bullosa eb. Some of the very earliest research on inherited eb was directed toward deb.
An online database of dystrophic epidermolysis bullosa patients and their col7a1 mutations article oct 2011. May 26, 2015 dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the col7a1 gene encoding type vii collagen. Lotus tissue repair announces support of first international. Rare disease registries and mutationvariation databases. The deb register is a joint initiative of the international dystrophic epidermolysis bullosa patient registry and the col7a1 gene variant. Reported causes have included poststreptococcal glomerulonephritis, secondary amyloidosis, and chronic mechanical obstruction. This set of guidelines was requested by dystrophic epidermolysis bullosa research association international debra international to help standardize the approach to pain care for both adult and pediatric patients with eb. Pseudosyndactyly and musculoskeletal contractures in. Dystrophic epidermolysis bullosa genetics home reference nih. The information below describes the prognosis and life expectancies for each of the major types of eb. An online database of dystrophic epidermolysis bullosa patients and their col7a1 mutations peter c. From the minute i was born i had to fight for everything i.
Patient registry software disease registry medical registry. The international registry of dystrophic epidermolysis bullosa deb patients and associated col7a1 mutations. It causes severe and widespread skin blistering that often leaves areas. Blisters occur within the lower layer of the skin, the dermis. Debra international s research into wound healing and skin cancer is therefore very closely linked. Data were obtained from 3271 patients consecutively enrolled in the national epidermolysis bullosa registry from january 1, 1986, through december 31, 2002, using a detailed. Epidermolysis bullosa symptoms and causes mayo clinic. This international deb register is the result of the fruitful collaboration between the. Dystrophic epidermolysis bullosa deb comprises two types based on inheritance pattern. A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with dystrophic epidermolysis bullosa. Epidermolysis bullosa eb is a rare genetic disease that causes painful skin blistering.
Molgenis automatically translate this model into all the software code needed for a fully. Management of chronic wounds in patients with dystrophic epidermolysis bullosa. Question what are the incidence and prevalence of each major type and subtype of inherited epidermolysis bullosa eb findings the overall incidence and prevalence of inherited eb based on 16 years of data collection across the united states were 19. The congenital muscle disease international registry cmdir was created in 2009 to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, assisting with enrollment in clinical trials, and in the future finding treatments or cures. To date, no data exist that permit an accurate estimation of the risk for death from renal failure in. Epidemiology of inherited epidermolysis bullosa based on. Crisprcas9based genetic correction for recessive dystrophic. A large number of unique col7a1 mutations have been shown to underlie deb. Epidermolysis bullosa symptoms, diagnosis and treatment. A crosssectional study of rdeb patients surveyed through the global ebcare registry. Epidermolysis bullosa eb registries ce eu wide global. Eb is clearly a rare disease, as defined by fewer than 200,000 patients in the.
Recessive dystrophic epidermolysis bullosa severe generalized rdebsev gen is the classic form of the condition and is the most severe. Deb register, an international registry for deb patients and their col7a1 mutations. Dystrophic epidermolysis bullosa deb can be either dominantly or recessively inherited, and involves defects in type vii collagen. Eb is caused by mutations in at least 18 genes, leading to a broad spectrum of diseases with different risks for the development of specific extracutaneous complications andor premature death. This is a work in progress and new updates and functionalities will be implemented on a regular basis. First patient dosed with dystrophic epidermolysis bullosa. Summary of debra international research conference 2012.
The deb register is a joint initiative of the international dystrophic epidermolysis bullosa patient registry and the col7a1 gene variant database aimed at creating one strong international register for all deb patients. Debra international and debra of america launch ebcare. Butterfly child is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Join the myotonic dystrophy family registry today and help us better understand and improve the lives of the people and families living with dm. Epidermolysis bullosa eb is a rare genetic connective tissue disorder that affects an estimated 1 out of every 20,000 births in the united states. Epidermolysis bullosa childrens hospital of philadelphia.
He has the recessive dystrophic form of eb and he lives in a small town called holt in north norfolk in the u. The international dystrophic epidermolysis bullosa patient. Use cases add chd7 database edit international dystrophic eb patient registry edit mvid patient registry. Prevalence of dystrophic epidermolysis bullosa in spain. The database software has been constructed by the genomics coordination. Use cases add chd7 database edit international dystrophic eb patient registry edit mvid patient registry edit wormqtlhd edit wormqtl edit. Management of chronic wounds in patients with dystrophic.
In addition to skin problems, patients with jeb may suffer from problems with the eyes, teeth, nails, internal tissues and may experience hair loss. The international lgda registry for lymphatic malformations is a critical part of the lgdas efforts to raise awareness of these diseases. Epidermolysis bullosa eb is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Dystrophic eb the collagen 7 protein is a major part of. Recessive dystrophic epidermolysis bullosa rdeb is an inherited. Epidermolysis bullosa eb is a group of inherited diseases in which the skin breaks and blisters easily following minor trauma. Recognition of three major subtypessimplex, junctional, and dystrophic. We implemented the international deb patient registry using the. These disorders have been recently divided into 4 main groups depending on the ultrastructural level of skin cleavage at which the blister forms.
Epidermolysis bullosa nord national organization for. Pdf mutational founder effect in recessive dystrophic. According to the debra international website dystrophic eb. Dystrophic epidermolysis bullosa genetic and rare diseases. Molgenis automatically translate this model into all the software. Table 1 summarizes the national epidermolysis bullosa registry experience with pseudosyndactyly of the hands in all major epidermolysis bullosa subtypes. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma that occurs during birth. Although most commonly observed in recessive dystrophic epidermolysis bullosa range, 41. Mitten deformities of the hands and feet occur in nearly every patient with the most severe subtype hallopeausiemens of recessive dystrophic epidermolysis bullosa, and in at least 4050% of all. Emma fogarty, patient ambassador im emma fogarty and i live in co laois with my parents and younger sister and i have recessive dystrophic eb. Patient registry software solutions that allow you to build your own patient registry or have us design a custom tailored patient registry built to your specifications. Recessive deb, including severe generalized rdebsev gen. A registry is a collection of information about individuals, usually focused around a specific diagnosis or condition. An online database of dystrophic epidermolysis bullosa patients and their col7a1 mutations.
Click on the image or join the registry above to get started. Inherited mechanical fragility of the skin and epithelial tissues. San diego, ca 92122 electronic textbook of dermatology blistering diseases. Home resources implementations international dystrophic eb patient registry international dystrophic eb patient registry the international registry of dystrophic epidermolysis bullosa deb patients and associated col7a1 mutations. The international deb register is constructed to aid all clinicians and scientists working in the field of dystrophic epidermolysis bullosa deb and the col7a1 gene. The congenital muscle disease international registry cmdir was created in 2009 to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care. In 1969, eisen postulated that excessive fibroblast collagenase activity was the underlying cause of subepidermal blister formation and dermal collagenolysis in patients with deb. In some forms of the disease, disfiguring scars and disabling musculoskeletal. Clinicalpursuit patient registry software can capture data and build a registry for hundreds or even thousands of patients. Natural gene therapy in dystrophic epidermolysis bullosa. The dystrophic epidermolysis bullosa research association of america debra, the only national nonprofit dedicated to funding research and providing services and programs for those with epidermolysis bullosa, eb the worst disease youve never heard of. Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. The dollar amount spent on directtopatient programs and services in 2018.
List of registries national institutes of health nih. The dystrophic epidermolysis bullosa research association of america, dba. Epidermolysis bullosa cause the skin to be very fragile and to blister easily. We therefore constructed the international deb patient registry. The international dystrophic epidermolysis bullosa patient registry. Inherited epidermolysis bullosa eb encompasses over 30 phenotypically or genotypically distinct entities which share as a common feature mechanical fragility of epithelial lined. Jun 11, 2018 krystal biotech announced that the first patient has been dosed in the phase 12 clinical trial of its drug, kb103, for the treatment of dystrophic epidermolysis bullosa deb. Epidermolysis bullosa nord national organization for rare. Many registries collect information about people who have a specific disease or condition, while others seek participants of varying health status who may be willing to participate in research about a particular disease.
Presents as recurrent erosions, blisters, and scars. Epidermolysis bullosa ebthe worst disease youve never heard of is. International dystrophic eb patient registry digital. Epidermolysis bullosa information, national and international support groups, clinics with genetic counselors and geneticists. Isolated case reports and limited clinical series suggested that renal failure may occur in some patients with inherited epidermolysis bullosa eb. Epidermolysis bullosa dystrophica or dystrophic eb deb is an inherited disease affecting the skin and other organs. There are two major subtypes, dominant deb ddeb and recessive deb rdeb. Wormqtl public archive and analysis web portal for natural variation data in caenorhabditis species. Inherited epidermolysis bullosa and the risk of death from. Molgenis opensource biosoftware generation toolbox swertz et al. Dystrophic epidermolysis bullosa conditions gtr ncbi. A spectrum of skin disease severity exists in patients with recessive dystrophic epidermolysis bullosa rdeb. Rat model for dominant dystrophic epidermolysis bullosa. This includes lotus tissue repairs proprietary recombinant collagen type vii rc7 technology, which is being developed as a treatment for dystrophic eb deb.
Dystrophic epidermolysis bullosa recessive, severe generalised severe generalised recessive deb is the most severe type of eb. Full text validity of firsttime diagnoses of congenital. Many registries collect information about people who have a specific. Lotus tissue repair provided grants to support the registry and it is being managed by innolyst, inc. Dystrophic epidermolysis bullosa genetics home reference.
The number of ongoing research projects funded through debra international. A registry supports research by collecting of information about patients that. Dystrophic epidermolysis bullosa and the type vii collagen gene. Get to know our small team of dedicated individuals. Epidermolysis bullosa eb is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and h.
Full text from clinical phenotype to genotypic modelling. The largest part of the text below was taken from the first version of. A software generator to rapidly build web databases and a suite of web databases for genotype, phenotype, qtl and analysis pipelines. All the software has been built using the opensource molge nis framework. Epidermolysis bullosa epihdurmoluhsis buhlloesah is a group of rare diseases that cause fragile, blistering skin.
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