May 09, 2018 epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. Pdf epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17 000 live births worldwide. Epidermolysis bullosa treatment epidermolysis bullosa news. Clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry, fine jd, bauer ea, mcguire j, et al eds. More than 20 subtypes of eb have been recognized in the literature. Epidermolysis bullosa simplex, autosomal recessive. Cutis marmorata telangiectatica congenita is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or. A consensus approach to wound care in epidermolysis bullosa. First reported by cordon in 1767, aplasia cutis congenita most commonly 70% manifests as a solitary defect on the scalp, as noted in the first image below, but sometimes it may occu. Clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry, fine jd, bauer ea, mcguire j, et al eds, the johns hopkins university press, baltimore 1999.
Eb is classified into distinct subtypes depending on the. Epidermolysis bullosa is a family of bullous disorders caused by an absence of basement membrane components due to underlying gene mutations. Publications home of jama and the specialty journals of the. Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. Approximately 400,000500,000 people are affected worldwide and no definitive treatments have yet been developed8,7. 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 group of diseases that cause painful blisters to form on the skin. Aplasia cutis congenita acc is a heterogenous group of disorders characterized by the absence of a portion of skin in a localized or widespread area at birth. Epidermolysis bullosa simplex with muscular dystrophy a rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the koebner variant of generalized epidermolysis bullosa simplex. Epidermolisis ampollosa distrofica o epidermolisis bullosa distrofica. Epidermolisis ampollosa juntural tipo herlitz femexer. Epidermolysis bullosa simplex is a form of epidermolysis bullosa that causes blisters at the site of rubbing. Epidermolysis bullosa epihdurmoluhsis buhlloesah is a group of rare diseases that cause fragile, blistering skin. Some people with the illness have a mild form with few blisters. Lukes health, wound care clinic, the woodlands, tx, usa. Epidermolysis bullosa eb encompasses a clinically and genetically heterogeneous group of rare inherited disorders characterized by marked mechanical fragility of epithelial tissues with blistering, erosions, and. It consists of blistering of the skin and mucous membranes in response to minimal trauma.
Epidermolysis bullosa eb comprises a group of genetically determined skin fragility disorders characterized by blistering of the skin and mucosa following mild mechanical trauma18,20,21. These blisters can cause serious problems if they become infected. Publications home of jama and the specialty journals of. The birmingham epidermolysis bullosa severity score. Epidermolisis ampollosa simple, epidermolisis ampollosa juntural, epidermolisis ampollosa. Please use one of the following formats to cite this article in your essay, paper or report. Jul 31, 2018 aplasia cutis congenita acc is a heterogenous group of disorders characterized by the absence of a portion of skin in a localized or widespread area at birth. Nonmolecular diagnostic testing of inherited epidermolysis bullosa.
Jun 21, 2019 epidermolisis ampollosa pdf epidermolisis ampollosa adquirida. It typically affects the hands and feet, and is typically inherited in an autosomal dominant manner, affecting the keratin genes krt5 and krt14. Epidermolisis ampollosa hereditaria pdf br j dermatol. To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa eb. Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17 000 live births worldwide. Cutis marmorata telangiectatica congenita cmtc is a rare condition that causes a marbled pattern on the skin. 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.
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