8,153
edits
Changes
no edit summary
I have a rare genetic skin problem, "non-Hallopeau-Siemens autosomal recessive dystrophic epidermolysis bullosa, generalized other". This condition means that when my skin is damaged, it heels incompletely, leaving it weakened. This is not the classic scar tissue that occurs after deep wounds, but thinner skin that lacks flexibility and is damaged easily. Each time an area is damaged, the new skin is weaker than before. .
* '''Epidermolysis Bullosa''' (EB) is an umbrella term for genetic skin problems that have blistering as a symptom. The term "Epidermolysis Bullosa" is Latin for 'blistering skin".
* '''Dystrophic''' Epidermolysis Bullosa (DEB) There are thee major categories of Epidermolysis Bullosa, and "dystrophic" is the type that results in weakened tissue. The other two categories are "simplex" and "junctional"
* '''Recessive''' Dystrophic Epidermolysis Bullosa (RDEB). Generally, recessive genetic conditions are more serious than dominant.
* '''Non-Hallopeau-SiemensGeneralized other''' (non-HS RDEB). This is the less serious of the two categories of Recessive Dystrophic Epidermolysis Bullosa. The Hallopeau-Siemens There is also a 'generalized severe' variant that is crippling, with a life expectancy in the 30s.** Under the previous classification, "generalized other" was called Non-Hallopeau-Siemens (non-HS RDEB), but this was changed under a reclassification in 2008 (The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB)
* '''Autosomal'''. A genetic term meaning the gene is not on the sex chromosome.
[[File:RDEB.JPG]]
* The epidermis has 4-5 layers, with cells formed at the innermost layer and migrating to the outside over the course of about six weeks.
* It seems reasonable that blistering in the epidermis would not cause dystrophy scaring
* There are suggestions that blistering in the epidermis fills with lymph fluid not blood, giving them a clear appearance
* Some [http://www.nature.com/mt/journal/v17/n1/full/mt2008262a.html research] has looked at Type VII Collagen Injections as a treatment for DEB.
=Classification of DEB=
[[File:DEB Classification.jpg]]
Warning - these links contain disturbing images and are recommended for medical professionals only.
* A Case of Non-Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883369/pdf/ad-21-49.pdf