The genetic defect of the dystrophic forms is due to a mutation in the col7a1 gene. Guidelines for the anesthetic management of epidermolysis. It does not provide medical advice, diagnosis or treatment. Epidermolysis bullosa are congenital bullous dermatoses that lead to spontaneous or posttraumatic formation of blisters. It consists of blistering of the skin and mucous membranes in response to minimal trauma. Sep, 2006 epidermolysis bullosa, a group of heritable blistering diseases with considerable clinical and genetic heterogeneity, has been divided into distinct subtypes depending on the level of tissue separation in the dermalepidermal basement membrane zone. Epidermolysis bullosa is inherited and herexitaria starts at birth. This illness causes the skin to be delicate and easily wounded which later on results into blisters.
Extensive areas of denuded skin represent loss of the stratum corneum barrier to microbial penetration. Type vii collagen is a major skin structural component of the anchoring fibrils at the dermo epidermal junction dej. Adhesive tape, adhesive ecg electrodes, adhesive pulse oximeter probes are not used under any circumstances. Epidermolisis bullosa, heridas, abordaje interdisciplinar, enfermedad rara. A consensus approach to wound care in epidermolysis bullosa. Abstract the epidermolysis bullosa is an infrequent disorder, with a prevalence of 0,5 1 per million of inhabitants comprising a group of genetic changes characterized by bullous. Junctional epidermolysis bullosa medicine wikipedia.
Epidermolysis bullosa eb is a group of genetic conditions that result in easy blistering of the skin and mucous membranes. Abstract epidermolysis bullosa eb is a term that includes a clinically and genetically heterogeneous group of bleb diseases of low prevalence, whose main characteristic is an extreme fragility of the skin and the mucous membranes. 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 response to little or no apparent trauma. Epidermolysis bullosa eb is the term used to define a group of genetic diseases characterized by mechanic fragility of the skin. Subash department of pediatrics, srm medical college hospital and research centre, kattankulathur, chennai. Epidermolysis bullosa eb is the term used to define a group. The illness frequently gets worse regardless of the treatment.
Once the mutations are identified in a family, reliable prenatal diagnosis is possible8,9,10. Guidelines for the anesthetic management of epidermolysis bullosa eb page 5 of 12 figure 3. Epidermolysis bullosa is a group of inherited disorders of the epithelial basement membrane zone, mainly presenting during earl y childhood. Epidermolysis bullosa the latest news and medical research on. It is characterized by blisters after minor trauma, with predominantly cutaneous manifestation and difficult manage. The eb kit containing all the accoutrements needed to do a case on a child with eb. The case reports of epidermolysis bullosa pruriginosa reveal many different alterations to this gene, including missense, nonsense, frame shift and splicesite mutations. Dermatitis seborreica infantil mayo clinic mayo clinic. Epidermolysis bullosa eb refers to some group of diseases which is very uncommon. Please use one of the following formats to cite this article in your essay, paper or report. There are three recognized disease groups, according to the second international consensus. Epidermolysis bullosa is a group of inherited disorders characterized by blistering of the skin and mucous membranes as a result of friction or minor trauma.
This leads to pain, discomfort, and sometimes fatal complications. Epidermolysis bullosa genetic and rare diseases information. It is caused by a variety of mutations in several genes that codify for dermalepidermal junction proteins, which leads to formation of blisters and skin and mucosal erosions, as well as. Clinical, genetic and histopathological criteria are involved in its diagnosis, distinguishing between simple seb, junctional jeb and dystrophic deb forms. Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Practica clinica enfermera en pacientes con epidermolisis bullosa. These blisters may appear in any parts of the body and is noted to be usually seen on the hands, feet, and in worse cases it can be found on internal organs. In people with eb, blisters form in response to minor injuries or friction, such as rubbing or scratching. Epidermolisis bullosa adquirida sucar batista revista. Aplasia cutis congenita, epidermolisis ampollosa y distrofia. Interferes with the quality of life of patients requiring a multidisciplinary therapeutic approach. Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. Epidermolysis bullosa pictures, treatment, life expectancy.
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. In junctional epidermolysis bullosa many proteins from the basal membrane zone are involved, such as laminin 5 genes lama3, lamb3 and lamc2, integrin a6b4 genes itga6 and itgb4 and collagen xvii gene col17a1, the dysfunction which leads to a subepidermal blister, at the level of the lamina lucida. Dermatologia, pediatria, epidermolisis bullosa, recien nacidos. Sufferers experience very fragile skin, with blisters and skin erosion occurring in response to relatively benign trauma. Identify the most frequent clinical manifestations presented by epidermolysis bullosa in the neonatology service hospital for children imiem are. The epidermolysis bullosa is an infrequent disorder, with a prevalence of 0,5 1 per million of inhabitants comprising a group of genetic changes characterized by bullous lesions in the skin and mucosa, which diagnosis requires of the use of molecular. Feb 07, 2017 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 response to little or no apparent trauma. Epidermolysis bullosa pruriginosa eb pruriginosa is a rare and clinically heterogeneous subtype of dystrophic epidermolysis bullosa dystrophic eb, resulting from a mutation within the type vii collagen gene eb pruriginosa is characterised by intensely itchy pruritic hypertrophic plaques in a linear configuration, usually found on the lower. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.
Epidermolysis bullosa eb is a rare disorder that causes the skin and sometimes surfaces inside the body like the intestines to break and blister easily. The clinical spectrum ranges from localized skin disease to a lifethreatening and disabling disease. Epidermolysis bullosa treatment epidermolysis bullosa news. Epidermolysis bullosa acquisita c definition nci a chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. Abstractbullous disorders of newborn are a rare entity. 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. Epidermolysis bullosa has no remedy but mild forms of blisters might surpass with age.
The clinical spectrum ranges from localized skin disease to a lifethreatening and disabling disease with extensive extracutaneous involvement. Epidermolysis bullosa is an hereditary, chronic,disease, incurable and with very low prevalence. Epidermolysis bullosa, a group of heritable blistering diseases with considerable clinical and genetic heterogeneity, has been divided into distinct subtypes depending on the level of tissue separation in the dermalepidermal basement membrane zone. The most important clinical manifestation, is the presence of blisters and vesicles over the skin and the mucous membranes, specially after direct minor trauma and friction. The treatment mainly focuses on the prevention of complications and easing the pain caused by the blisters. Apr 18, 2018 epidermolysis bullosa eb is a group of genetic skin diseases that cause the skin to blister and erode very easily. Genetically inherited bullous disorders, especially the dystrophic and junctional types have a fatal course 1. Epidermolysis bullosa eb is a heterogeneous group of inherited skin diseases characterized by increased skin fragility and variable degrees of extracutaneous involvement. Medicine, dermatology, pediatrics, epidermolysis bullosa, newborn. Association of epidermolysis bullosa simplex with mottled pigmentation and exph5 mutations. Determine the prevalence of epidermolysis bullosa in the neonate was admitted to the neonatology service hospital for children imiem, toluca, in the period january 2000 to december 2011. This book deals with the treatment of this skin disease itself.
Epidermolysis bullosa eb is a group of genetic skin diseases that cause the skin to blister and erode very easily. Epidermolysis bullosa acquisita epidermolysis bullosa acquisita eba is an acquired form of eb with similar symptoms there are three major types of eb, each affecting one of these layers. The causes are mutations in the genes of structural proteins of the junction between epidermis and dermis. Evaluation and treatment of the newborn with epidermolysis.
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