Epidermolysis+Bullosa


 * Name: **Epidermolysis Bullosa (EB).

**Root Cause:** EB is an inherited disease which is caused by a mutation in different genes within the epidermal basement membrane cells. There are three main types of EB: EB Simplex, Junctional EB, and Dystrophic EB. EBS is the least severe yet most common type of EB and is caused by a mutation in the keratin 5 and keratin 14 genes that code for intermediate filaments. Junctional EB is caused by a mutation in the genes that code for collagen XVII. Dystrophic EB is caused by a mutation in the collagen VII genes.


 * Affected Cell Types: **EBS affects the skin especially the hands and feet. The more severe types of EB can affect the mucous membranes.


 * Historical Background: **German dermatologist Heinrich Kobner introduced the name Epidermolysis Bullosa Hereditaria. He is known for his research of psoriasis and epidermolysis bullosa simplex and also for the Koebner phenomenon which refers to the appearance of lesions along a site of injury. Another form of EB, Recessive Dystrophic EB, was introduced by Francois Hallopeau, a Fresh dermatologist. In 2004 a documentary titled The Boy Whose Skin Fell Off won an Emmy. It featured Johnny Kennedy, a boy with Dystrophic Epidermolysis Bullosa who was born with no skin on his left leg. He eventually died of skin cancer caused by EB.


 * Common Symptoms: **Symptoms of EB include the formation of blisters and erosions in the skin and mucous membranes as a result of minor trauma. The most common complication of EB is severe infection. There is also an increase in risk for developing squamous cell carcinoma.


 * Standard Treatments: **No definitive cure or treatment currently exists for EB. Probably the most important aspect of treatment is pain management. Since pain is focused on the skin it may exist during daily activities, bathing, or even at rest. Alteration in activities to prevent unnecessary trauma to the skin can effectively reduce pain. The application of ointment infused dressings to wound sites has also been shown to greatly reduce pain.


 * Current Research: **Although there are three types of EB, research is most closely being done on Dystrophic EB, one of the more severe forms.Research is aimed at finding a treatment that would correct the deficiency or lack of the specific anchoring protein in the epidermal basement membrane. There are three types of therapies being tested: protein therapy, cell therapy, and gene therapy. Protein therapy includes the direct application of the missing protein, either topically or through intradermal or intravenous administration. Cell therapy is based on treatment with cells that produce the proteins needed or will differentiate into the other cells that will produce the required proteins. Gene therapy involves the use of DNA for direct correction of the malfunctioning gene by transmission of external genes into the cell. (Siañez-González, 2009) The most promising strides seem to be in bone-marrow derived stem cell therapy because of the stem cells’ ability to differentiate into skin cells given the right microenvironment. (Kiuru, 2010) Another hopeful treatment is based on fibroblast therapy because fibroblasts produce collagen VII. (Yan, 2010)

 The Basics of Epidermolysis Bullosa. [] Kiuru, M., Itoh, M., Cairo, MS., Christiano, AM. (2010) Bone Marrow Stem Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa. Dermatologic Clinics 28: 371- 382. Sianez-Gonzalez, C., Pezoa-Jares, R., and Salas-Alanis, JC. (2009) Congenital Epidermolysis Bullosa: A Review. Actas Dermo-Sifiliográficas 100: 842-56. <span style="font-family: 'Calibri','sans-serif'; text-align: justify;">Yan, WF., Murrell, DF. (2010) Fibroblast-Based Cell Therapy Strategy for Recessive Dystrophic Epidermolysis Bullosa. Dermatologic Clinics 28: 367-370.
 * <span style="font-family: 'Calibri','sans-serif';">References: **