Epidermolysis bullosa dystrophica
- Epidermolysis bullosa dystrophica
Infobox_Disease
Name = PAGENAME
Caption =An eighteen month old toddler with DEB.
DiseasesDB = 29580
ICD10 = ICD10|Q|81|2|q|80
ICD9 = ICD9|757.39
ICDO =
OMIM = 131750
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D016108
Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) forms which can lead to scarring occur in a deeper tissue level; the sub-lamina densa region (the beneath the lamina densa) within the upper dermis. The disease DEB is caused by genetic defects (or mutations) within the molecule type VII collagen (collagen VII). Collagen VII is a very large molecule (780 nm) that dimerizes to forms a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis.
Collagen VII is also present in the epithelial tissue of the esophagus, which leads to chronic scarring, webbing, and obstruction. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also suffer from iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.
Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infections.
The chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.
External links
*
*
Wikimedia Foundation.
2010.
Look at other dictionaries:
epidermolysis bullosa dystrophica — epidermolysis bullosa caused by mutations in the COL7A1 gene (locus: 3p21.3), which encodes type VII collagen, characterized by blistering beneath the lamina densa, with atrophy of previously blistered areas, severe scarring after healing, and… … Medical dictionary
dominant epidermolysis bullosa dystrophica — dominant dystrophic epidermolysis bullosa a group of relatively mild autosomal dominant forms of epidermolysis bullosa dystrophica. There are two main variants: The more severe Pasini or albopapuloid variant is usually present at birth or in… … Medical dictionary
recessive epidermolysis bullosa dystrophica — recessive dystrophic epidermolysis bullosa the autosomal recessive forms of epidermolysis bullosa dystrophica; these tend to be more severe than the dominant forms. Most are characterized by extensive denuded hemorrhagic erosions and blisters on… … Medical dictionary
Epidermolysis bullosa — (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. The condition was brought to public attention in the UK through the… … Wikipedia
epidermolysis bullosa — epidermolysis bul·lo·sa bə lō sə n any of a group of inherited disorders of variable severity marked esp. by the formation of large fluid filled blisters which develop chiefly in response to minor mechanical trauma see dystrophic epidermolysis… … Medical dictionary
Epidermolysis bullosa — (EB) ist eine genetisch bedingte Hautkrankheit, die je nach Subtyp autosomal dominant oder rezessiv vererbt wird. Ursache ist ein angeborene Mutation in bestimmten Genen, deren Genprodukte (Proteine) u. a. für den intakten zellulären Aufbau der… … Deutsch Wikipedia
dystrophic epidermolysis bullosa — n any of several forms of epidermolysis bullosa that are marked esp. by blister formation between the basement membrane and lamina propria often accompanied by scarring and sometimes involvement of the mucous membranes (as of the mouth or… … Medical dictionary
epidermolysis — A condition in which the epidermis is loosely attached to the corium, readily exfoliating or forming blisters. [epidermis + G. lysis, loosening] e. bullosa [MIM*131800] a group of inherited chronic noninflammatory skin diseases in which large… … Medical dictionary
EBD — epidermolysis bullosa dystrophica … Medical dictionary
EBD — • epidermolysis bullosa dystrophica … Dictionary of medical acronyms & abbreviations
