ABOUT AUTHOR:
Akshay Rajgaria
Kanak Manjari Institute of Pharmaceutical Sciences
Rourkela, Orissa
akshaykrish2007@gmail.com
ABSTRACT:
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disorder caused by mutations in the COL7A1 gene-encoding type VII collagen (Col7), the major component of anchoring fibrils at the dermal-epidermal junction. Individuals with RDEB develop painful blisters and mucosal erosions, and currently, there are no effective forms of therapy. Nevertheless, some advances in patient therapy are being made, and cell-based therapies with mesenchymal and hematopoietic cells have shown promise in early clinical trials.
REFERENCE ID: PHARMATUTOR-ART-2036
INTRODUCTION:
Epidermolysis bullosa dystrophica or Dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly.
CAUSES:
In most cases, epidermolysis bullosa is inherited. Researchers have identified more than 10 genes involved with skin formation that, if defective, may cause a type of epidermolysis bullosa. It's also possible to develop epidermolysis bullosa as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell.The four main types of this condition are:
Epidermolysis bullosa simplex. This most common and generally mildest form usually begins at birth or during early infancy. In some people, mainly the palms of the hands and soles of the feet are affected. In epidermolysis bullosa simplex, the faulty genes are those involved in the production of keratin, a fibrous protein in the top layer of skin. The condition causes the skin to split in the epidermis, which produces blisters, usually without scar formation.
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Junctional epidermolysis bullosa. This usually severe type of the disorder generally becomes apparent at birth. In junctional epidermolysis bullosa, the faulty genes are involved in the formation of thread-like fibers (hemi desmosome) that attach your epidermis to your basement membrane. This gene defect causes tissue separation and blistering in your basement membrane zone. Junctional epidermolysis bullosa is the result of both parents carrying one copy of the defective gene and passing on the defective gene (autosomal recessive inheritance pattern), although neither parent may clinically have the disorder (silent mutation). If both parents carry one faulty gene, there's a 25 percent chance each of their offspring will inherit two defective genes one from each parent and develop the disorder.
Dystrophic epidermolysis bullosa. This type, whose subtypes range from mild to severe, generally becomes apparent at birth or during early childhood. In dystrophic epidermolysis bullosa, the faulty genes are involved in the production of a type of collagen, a strong protein in the fibers that hold the deepest, toughest layer of your skin together. As a result, the fibers are either missing or nonfunctional. Dystrophic epidermolysis bullosa can be either dominant or recessive
Epidermolysis bullosa acquisita (EBA) is another rare type of epidermolysis bullosa, which isn't inherited. Blistering associated with this condition occurs as the result of the immune system mistakenly attacking healthy tissue. It's similar to a condition called bullous pemphigoid, which also is related to an immune system disorder. EBA has been associated with Crohn's disease, an inflammatory bowel disease.
SYMPTOM:
Blistering of your skin — how widespread and severe depends on the type
Deformity or loss of fingernails and toenails
Internal blistering, including on the throat, esophagus, upper airway, stomach, intestines and urinary tract
Skin thickening on palms and soles of the feet (hyperkeratosis)
Scalp blistering, scarring and hair loss (scarring alopecia)
Thin-appearing skin (atrophic scarring)
Tiny white skin bumps or pimples (milia)
Dental abnormalities, such as tooth decay from poorly formed tooth enamel
Excessive sweating
Difficulty swallowing (dysphagia)
PATHOPHYSIOLOGY: In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita. There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the epidermis or the basementmembrane at the junction between the epidermis and the dermis.
TREATMENT:
- Skin care Blisters may be large and, once broken, susceptible to infection and fluid loss. Your doctor may recommend the following tips for treating blisters and raw skin:
- Puncture blisters with a sterile needle to prevent the blister from spreading further. Leaving the roof of the blister intact allows for drainage of the blister while protecting the underlying skin.
- Apply antibiotic ointment, petroleum jelly or other moisturizing substance before applying a special non sticking bandage.
- Soak wounds with a disinfectant solution. For wounds that don't heal, infection with bacteria such as pseudomonas may be playing a role. Soaks with diluted vinegar solution are sometimes used as a disinfectant, starting with a low enough concentration that the solution doesn't sting but is still helpful to remove germs.
Surgery
- Ideally, deformities and fusion of the hands and feet can be prevented with daily protective wrapping. However, repeated blistering and scarring can cause deformities, such as fusing of the fingers or toes or abnormal bends in the joints (contractures). Your doctor may recommend surgery to correct these deformities, particularly if they interfere with normal motion.
- Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgery to widen (dilate) the esophagus may be needed. Using light sedation, the surgeon positions a small balloon in the esophagus and inflates it to dilate the area.
- To improve nutrition and help with weight gain, a tube (gastrostomy tube) may be implanted to deliver food directly to the stomach..
Physical therapy
Working with a physical therapist can help ease the limitations on motion caused by scarring and shortening of the skin (contracture). Swimming may be helpful for many people. Intensive studies are under way to find better ways to treat and relieve the symptoms of epidermolysis bullosa, including gene replacement, bone marrow transplantation and recombinant protein therapies.
REFERENCES:
Mihai S, Sitaru C (2007). "Immunopathology and molecular diagnosis of autoimmune bullous diseases". J. Cell. Mol. Med. 11 (3): 462–81.
Fine JD, Eady RA, Bauer EA, et al. (2008). "Report of the Third International Consensus Meeting on Diagnosis and Classification of EB". J. Am. Acad. Dermatol. 58 (6): 931–50.
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