Genetically inherited bullous disorders, especially the dystrophic and junctional types have a fatal course 1. Iterative codesign and testing of a novel dressing glove for. Open access j public health in eb simplex with muscular dystrophymutations, in genes responsible for the expression of plectin, a hemi desmosome subunit, have been suggested in this type of disease. Life with epidermolysis bullosa eb etiology, diagnosis. Existing dressings do not conform to the complex structure of the hand and are applied in patches held with additional bandages, leading to.
Most types of this condition start at birth or soon after. Treatment decisionmaking for patients with the herlitz. May 05, 2019 epidermolysis bullosa is a family of diseases characterized by blistering and fragility of the skin in response to mechanical trauma. Dystrophic epidermolysis bullosa journal of perinatology. Pdf the management of hereditary epidermolysis bullosa. Epidermolysis bullosa genetic and rare diseases information. Epidermolysis bullosa is a term used to describe several hereditary vesiculobullous disorders of the skin and mucosa.
Epidermolysis bullosa cause the skin to be very fragile and to blister easily. Epidermolysis bullosa is a rare and painful skin disorder has no cure. Epidermolysis bullosa acquisita eba is an orphan autoimmune disease. Any trauma or friction to the skin can cause painful blisters. A case of dystrophic epidermolysis bullosa and another of acquired form of epidermolysis bullosa are reported. In the beginning of the 20th century, the term epidermolysis bullosa acquisita eba was used as a descriptive clinical diagnosis for patients with adult onset and features resembling those of hereditary dystrophic epidermolysis bullosa. A study of 11 cases of epidermolysis bullosa is presented. Recently, several suprabasal types of ebs have been described as well. Dermatologists can identify epidermolysis bullosa by taking a small piece of skin and looking at it under a microscope. Junctional epidermolysis bullosa jeb is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Existing dressings do not conform to the complex structure of the hand and are applied in patches held with additional bandages, leading to an occlusive environment.
Recessive dystrophic epidermolysis bullosa rdeb is a rare genetic skin disorder which requires intensive hand therapy to delay fusion of the digits. Treating and preventing blisters and complications of epidermolysis bullosa can be stressful for you, your child and family members. The blisters may appear in response to minor injury, even from heat, rubbing, scratching or adhesive tape. The primary manifestation for most with the condition involves blisters and skin erosions in response to mild trauma. Aug 26, 2012 inherited epidermolysis bullosa eb is a group of genetically transmitted skin disorders characterized by spontaneous blistering or blistering caused by minor trauma. Jul 22, 2011 epidermolysis bullosa simplex ebs is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. It concerns a 20 days breastfed girl with severe blistering and erosions on the skin. Pdf a newborn with epidermolysis bullosa ijsrp journal. N2 epidermolysis bullosa simplex ebs is a genetic disorder usually characterized by an autosomal dominant mode of transmission in which the skin blisters in response to trivial mechanical trauma.
This is a rare genetic disorder characterized by skin fragility leading to blister formation. Epidermolysis bullosa can vary from minor blistering of the skin to a lifethreatening form that affects other organs. Each of the many subtypes of inherited epidermolysis bullosa eb is currently. Margari f et al 2010 psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa. Omim 601001, 1800, 1900, 1950, 1760, junctional jeb. These are diseases of varying severity, which can have a significant psychosocial. Pdf epidermolysis bullosa eb is the name used to define a group of phenotipically. As a result, many authorities and journals now discourage the. Epidermolysis bullosa, challenges and novel therapies. 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. Mar 15, 2007 the herlitz subtype of junctional epidermolysis bullosa jebh is a lethal genetic disorder characterized by recurrent and persistent erosions of the epithelial surfaces that heal with exuberant.
This type of disease usually accompanies by pyloric atresia or hypoplasia of enamel8. Dystrophic epidermolysis bullosa is one of the major forms of a group of conditions called epidermolysis bullosa. Recessive dystrophic epidermolysis bullosa severe generalized rdebsev gen is the classic form of the condition and is the most severe. Epidermolysis bullosa eb includes a group of rare, clinically and genetically heterogeneous genodermatoses characterized by moderate to excessive fragility of epithelial tissues as well as formation of blisters or erosions following minimal trauma mechanobullous dermatoses. Epidermolysis bullosa eb is a group of inherited blistering disorders that can be potentially life threatening to newborns and infants.
The deficiency andor dysfunction of type vii collagen leads to subepidermal blistering. Epidermolysis bullosa eb, a group of autosomal heritable blistering diseases, is characterised by extensive phenotypic variability with considerable morbidity and mortality. Sorsby 4 described three principal types of this disease. Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Lukes health, wound care clinic, the woodlands, tx, usa. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and h. These therapies show that gene therapy is both safe. Epidermolysis bullosa simplex, nonscarring form, transmitted as an autosomal dominant or sexlinked trait. Almost 70 years later, eba was distinguished from other bullous diseases on the basis of. Ebs is classified into two groups of subtypes by the layer of skin at which the peeling originates.
Epidermolysis bullosa eb is a term for a group of conditions associated with abnormalities of the basement membrane zone of skin and mucous membranes. A subgroup, coined jebother, is associated with mutations in the col17a1 gene encoding collagen xvii or, more. Epidermolysis bullosa eb, often referred to as the butterfly disease, is a group of rare genetic conditions characterized by skin that is delicate and fragile as butterfly. Epidermolysis bullosa simplex with muscular dystrophy is a variant of simplex type of eb manifests by diffuse skin blisters and muscular dystrophy in older ages. Dystrophic epidermolysis bullosa genetics home reference nih. Pdf inherited epidermolysis bullosa eb encompasses a number of disorders characterized by. Jan 10, 2019 epidermolysis bullosa acquisita eba is an orphan autoimmune disease. Epidermolysis bullosa is a family of diseases characterized by blistering and fragility of the skin in response to mechanical trauma. Epidermolysis bullosa an overview sciencedirect topics. Epidermolysis bullosa eb is a group of genetic conditions that result in easy blistering of the skin and mucous membranes. Clinical practice guidelines for laboratory diagnosis of eb, c.
Major types of epidermolysis bullosa include epidermolysis bullosa simplex, hemidesmosomal epidermolysis bullosa, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa. Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. Inherited epidermolysis bullosa eb encompasses a number of disorders characterized. Abstract epidermolysis bullosa eb is a group of rare, genetic connective tissue disorders that typically presents itself at birth or in early infancy. Epidermolysis bullosa letalis in the larynx causing acute respiratory failure. Epidermolysis bullosaassociated squamous cell carcinoma mdpi.
Studies on the pathogenesis of epidermolysis bullosa. You may find it helpful to share concerns and information with families in similar circumstances. Epidermolysis bullosa eb is a heterogenous group of genodermatoses characterized by the formation of blisters and erosions on skin and mucous membrans from birth on. Inherited epidermolysis bullosa orphanet journal of rare. We report a case of a 46yearold lady who presented with typical features of brunstingperry pemphigoid. Summary the term epidermolysis bullosa eb includes a group of rare genodermatoses characterized by mutational impairment of the. The association of epidermolysis bullosa with porphyria is also described in. Epidermolysis bullosa diagnosis and treatment mayo clinic.
Epidermolysis bullosa eb is a rare group of inherited disorders that manifests as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs, in. They are differentiated by the level of blister cleavage and subdivided according to the. Clinical practice guidelines for laboratory diagnosis of epidermolysis. Scroll down to read the article or download a printfriendly pdf here. Although the condition is rare, in some cases it presents extreme challenges both to those affected and those involved in the care of the eb patient. Hereditary epidermolysis bullosa ebh is a heterogeneous group of rare genodermatoses, characterized by cutaneous or mucosal fragility, localized or generalized. Re cruitment was conducted via email and social media in part nership with epidermolysis bullosa patient advocacy organizations debra of america and eb. Epidermolysis bullosa nord national organization for rare. Back to journals chronic wound care management and research. Epidermolysis bullosa is divided into four subdivisions, and each subdivision has subtypes. Inherited epidermolysis bullosa eb encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
Junctional epidermolysis bullosa genetics home reference. Ask your health care providers about epidermolysis bullosa support groups in your area. Epidermolysis bullosa news is strictly a news and information website about the disease. Iterative codesign and testing of a novel dressing glove. Within the hereditary variants, there are three groups according to the location of skin separation.
Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Journal of clinical psychology in medical settings. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma that occurs during birth. Clinical presentation of epidermolysis bullosa acquisita. Dec 22, 2003 epidermolysis bullosa eb is a group of inherited blistering disorders that can be potentially life threatening to newborns and infants. Eb is classified into distinct subtypes depending on the location of blistering within the cutaneous dermoepidermal basement membrane zone.
Epidermolysis bullosa is a group of disorders in which skin blisters form after a minor injury. The eye in epidermolysis bullosa british journal of. Epidermolysis bullosa dystrophica in children radiology. The cause are mutations in the genes of structural proteins of the junction between epidermis and dermis. It does not provide medical advice, diagnosis or treatment. Aug 31, 2016 four scoring systems have been proposed as potential outcome measures for eb, including the japanese indices, 1 the birmingham eb severity bebs score, 2 the instrument for scoring clinical outcome of research for epidermolysis bullosa iscoreb 3 and the epidermolysis bullosa disease activity and scarring index ebdasi.
Consensus reclassification of inherited epidermolysis bullosa. Junctional epidermolysis bullosa the second main type of the disease which contains of blisters. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes krt5 and krt14. Most frequently it is genetically determined and congenital although there is an acquired variety. Nutritional support for children with epidermolysis bullosa. Epidermolysis bullosa is a rare hereditary skin disease, in which slight trauma disrupts the cohesion between the epidermis and the dermis, resulting in the formation of vesicles, bullae, and ulcers. Epidermolysis bullosa carrier frequencies in the us. Epidermolysis bullosa eb is a group of heritable blistering disorders in which three major subtypes have been recognized on the basis of clinical, genetic, and ultrastructural features. Inherited epidermolysis bullosa eb encompasses over 30 phenotypically or genotypically distinct entities which share as a common feature mechanical fragility of epithelial lined or surfaced tissues, most notably the skin. Epidermolysis bullosa epihdurmoluhsis buhlloesah is a group of rare diseases that cause fragile, blistering skin.
This article was published in the following scient open access journal. Epidermolysis bullosa eb is the name for a group of rare inherited skin disorders that cause the skin to become very fragile. Patients with eba suffer from chronic inflammation as well as blistering and scarring of the skin and mucous membranes. Epidermolysis bullosa simplex ebs is usually dominantly inherited, and involves disorders of the genes for keratins 5 and 14 and plectin. Dystrophic epidermolysis bullosa genetics home reference. Therefore, there is a failure in keratinisation, which affects the integrity and the ability of the skin to resist mechanical stresses. Epidermolysis bullosa is a rare group of genetic disorders of the skin with dominant and recessive modes of transmission. Abstract mastocytosis is an uncommon disorder characterized by clonal proliferation of mast cells in one or more organs, including cutaneous mastocytosis limited to the skin and systemic mastocytos. Epidermolysis bullosa simplex genetic and rare diseases. Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. The anesthetic concerns and difficulties have been described previously. Epidermolysis bullosa simplex johns hopkins university. Inherited epidermolysis bullosa eb is a heterogeneous group of genetic disorders that present with skin and, in some cases, mucosal fragility, predisposing.
Aug 22, 2012 epidermolysis bullosa is a family of inherited blistering skin disorders characterized by blister formation in response to mechanical trauma. Laryngotracheal involvement in epidermolysis bullosa. A working classification of the epidermolysis bullosa group of diseases is given in table i. The epidermolysis bullosa disease activity and scarring index. Epidermolysis bullosa eb can have either an autosomal dominant or autosomal recessive mode of inheritance in epidermolysis bullosa simplex ebs and dystrophic epidermolysis bullosa deb. Breach of the epidermis in the newborn predisposes them to sepsis. Advances in our understanding of epidermolysis bullosa pathophysiology have provided the necessary foundation for the first clinical trials of gene therapy for junctional and dystrophic epidermolysis bullosa. This theme was extremely timely, yet forwardlooking, due to the fact that precision medicine is one of the fastest growing paradigms of contemporary medicine box 1. Ten genes are known to harbour mutations in the major types of eb.
An accurate diagnosis in the newborn period can be. International journal of pediatric otorhinolaryngology, vol. Spinal anesthesia in an infant with epidermolysis bullosa. Kindler syndrome and junctional epidermalysis bullosa with the exception of one report, to our knowledge are autosomal recessive. Current treatment options rely on nonspecific immunosuppression, which in many cases, does not lead to a remission of treatment. Certain important clinical features have been elicited. Learn more about the symptoms, causes, diagnosis, and treatment of epidermolysis bullosa. A genetic counselor can explain how genes cause the disease, and tell you how likely it is that you will pass the disease to your children.
The search keywords included epidermolysis bullosa. Background junctional epidermolysis bullosa jeb, a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermalepidermal junction zone. The eye in epidermolysis bullosa article pdf available in british journal of ophthalmology 833. Epidermolysis bullosa in the newborn a rare clinical entity. Most cases are due to dominantly acting mutations in either keratin 14 k14 or k5, the type i and ii intermediate filament if proteins tasked with forming a pancytoplasmic network of. Epidermolysis bullosa eb is a group of genetic skin diseases that cause the skin to blister and erode very easily. A characteristic feature of all types of eb is the presence of recurrent blistering or erosions, the result of even minor traction to these tissues. Epidermolysis bullosa eb simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin.
In people with eb, blisters form in response to minor injuries or friction, such as rubbing or scratching. Clinical presentation, pathogenesis, diagnosis, and. Blisters and areas of skin loss erosions form in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa eb is an encompassing term for a large group of clinically similar disease processes that have in common the separation of the epithelium from the underlying connective tissue and the formation of large blisters that frequently result in extensive and often immobilizing scar formation. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The 2016 jid beijing workshop, held in the context of the 5th national congress of investigative dermatology of the chinese society of dermatology, had the thematic focus on precision medicine in dermatology. Epidermolysis bullosa eb is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. Epidermolysis bullosa symptoms and causes mayo clinic. We report a case of epidermolysis bullosa simplex in a full term baby at birth. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Autoantibodies to type vii collagen were identified by using recessive dystrophic epidermolysis bullosa skin which lacks type vii collagen in an indirect immunofluorescence assay.