Epidermolysis Bullosa
| Definition: |
Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties. |
| Notes: |
vesiculobullous skin dis; GEN only: prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES |
Epidermolysis Bullosa Categories.
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Epidermolysis Bullosa Acquisita - Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction. |
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Epidermolysis Bullosa Dystrophica - Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. |
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Epidermolysis Bullosa Simplex - Form of epidermolysis bullosa characterized by autosomal dominant inheritance and by serous bullae that heal without scarring. |
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Epidermolysis Bullosa, Junctional - Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane. |
Epidermolysis Bullosa Definitions and Terms
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