Epidermolysis bullosa

A group of disorders where blisters form on the skin.


A rare condition in which skin and mucous membranes blister from injury or friction and, in severe cases, simply from normal activities, as internally in the digestive system. Though one form can be acquired during adolescence or later, most forms of epidermolysis bullosa are genetic disorders; some are of the autosomal dominant type, others are autosomal recessive, and some are apparent at birth. Blisters resemble serious burns and must be treated as carefully to avoid infection; some blisters form permanent scars, which can cause immobility and deformity. In severe forms, some infants can die during the first year of life, from infections and loss of fluid, though sometimes the symptoms lessen in children who survive. EB can be detected during pregnancy using fetoscopy and by blood tests and biopsy. Prospective parents with EB in their personal or family history may want to seek genetic counseling.


A genetically transmitted form of epidermolysis marked by the formation of deep-seated bullae appearing after irritation or rubbing.


A collection of uncommon, inherited conditions with a broad range of severity, characterized by the development of blisters on the skin following minor injuries or even occurring spontaneously.


Epidermolysis bullosa is the result of a genetic defect that can manifest as either an autosomal dominant or an autosomal recessive pattern of inheritance.


The conditions can be identified through a skin biopsy, which involves the extraction of a small tissue sample for microscopic analysis.


There is no targeted treatment available for the condition, but it is essential to avoid causing injury to the skin. Protective measures should be adopted to prevent rubbing of affected areas when blisters appear.


The prognosis ranges from gradual improvement in mild cases to the progression of the disease in the most severe cases.


 


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