Epidermolysis bullosa dystrophica: Difference between revisions

	Epidermolysis bullosa dystrophica;
ICD-10	Q81.2
ICD-9	757.39
OMIM	131750
DiseasesDB	29580
MeSH	D016108

VisualWikitext

Revision as of 15:50, 27 August 2014

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kiran Singh, M.D. [2]

Overview

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.

Diagnosis

Physical Examination

Skin

Scalp

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]

Neck

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]

Trunk

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]

Extremities

Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]
Epidermolysis bullosa pruriginosa. Adapted from Dermatology Atlas.^[1]

External links

ebd at NIH/UW GeneTests
Template:GPnotebook

Template:Disease-stub Template:Congenital malformations and deformations of integument Template:WikiDoc Sources

↑ ^1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 ^1.13 ^1.14 ^1.15 ^1.16 ^1.17 ^1.18 ^1.19 ^1.20 ^1.21 ^1.22 ^1.23 ^1.24 ^1.25 ^1.26 ^1.27 ^1.28 ^1.29 ^1.30 ^1.31 ^1.32 "Dermatology Atlas".

[Dermatology_Atlas-1] 1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 ^1.13 ^1.14 ^1.15 ^1.16 ^1.17 ^1.18 ^1.19 ^1.20 ^1.21 ^1.22 ^1.23 ^1.24 ^1.25 ^1.26 ^1.27 ^1.28 ^1.29 ^1.30 ^1.31 ^1.32 "Dermatology Atlas".

[1]

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 Image:Epidermolysis bullosa pruriginosa05.jpg|Epidermolysis bullosa pruriginosa. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/  Adapted from Dermatology Atlas.]''<ref name="Dermatology Atlas">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/}}</ref></SMALL></SMALL>
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 </gallery>
 =====Extremities=====
 <gallery>

Epidermolysis bullosa dystrophica
ICD-10	Q81.2
ICD-9	757.39
OMIM	131750
DiseasesDB	29580
MeSH	D016108