About localized epidermolysis bullosa
What is localized epidermolysis bullosa?
Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one may be either mildly or severely affected. EB ranges from being a minor inconvenience requiring modification of some activities, to being completely disabling and, in some cases, fatal.
Friction causes blister formation. Blisters can form anywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve the external surface of the eye, as well as the respiratory, gastrointestinal and genitourinary tracts. In some forms of the disease, disfiguring scars and disabling musculoskeletal deformities occur.
Currently, there is no cure for EB. Supportive care includes daily wound care, bandaging, and pain management as needed.
What are the causes for localized epidermolysis bullosa?
The four major types of epidermolysis bullosa simplex can result from mutations in either the KRT5 or KRT14 gene. These genes provide instructions for making proteins called keratin 5 and keratin 14. These tough, fibrous proteins work together to provide strength and resiliency to the outer layer of the skin (the epidermis). Mutations in either the KRT5 or KRT14 gene prevent the keratin proteins from assembling into strong networks, causing cells in the epidermis to become fragile and easily damaged. As a result, the skin is less resistant to friction and minor trauma and blisters easily. In rare cases, no KRT5 or KRT14 gene mutations are identified in people with one of the four major types of epidermolysis bullosa simplex.
Mutations in another gene, PLEC, have been associated with the rare Ogna type of epidermolysis bullosa simplex. The PLEC gene provides instructions for making a protein called plectin, which helps attach the epidermis to underlying layers of skin. Researchers are working to determine how PLEC gene mutations lead to the major features of the condition.
What are the risk factors for localized epidermolysis bullosa?
Localized Epidermolysis bullosa simplex (EBS) is a genetic disease, which means that it is caused by one or more genes not working correctly.
- The majority of EBS subtypes are inherited in a dominant manner. This means that an affected parent passes them on to half of his or her offspring. EBS affects both men and women equally.
- Epidermolysis bullosa simplex is often transmitted in an autosomal dominant manner, which means that only one copy of the mutated gene in each cell is required to induce the disorder.
- Some persons who are affected acquire the gene mutation from one infected parent. Other cases are caused by novel gene mutations and happen to people who have no family history of the condition.
- Epidermolysis bullosa simplex is inherited in a rare autosomal recessive type. The disease is inherited in an autosomal recessive manner, which means that two copies of the gene in each cell are changed.
- The ancestors of a person with an autosomal recessive condition typically have one copy of the mutated gene but do not have the disorder.
- Having a family history of epidermolysis bullosa is also a major risk factor for developing Epidermolysis bullosa.
Symptoms
Poor nail formation,Oral mucosal blisters,Millium cyst,Red-blue papule,Thin, atrophic scars,Plantar hyperkeratosis,Sweating, increased,Upper limb pain,Tingling,Subepidermal blistering with cleavage in the lamina lucida,Skin itching,Foot pain,Skin bullae
Conditions
Oral mucosal blisters,Nail dystrophy,Mixed hypo- and hyperpigmentation of the skin,Erythematous papule,Plantar hyperkeratosis,Palmar hyperkeratosis,Hyperhidrosis,Paresthesia,Pruritus
Drugs
Aluminum chloride (20%),Cyproheptadine,Tetracycline,Erythromycin, or botulimun toxin Localized Epidermolysis bullosa simplex(EBS) is a genetic disease, which means that it is caused by one or more genes not working correctly.
Is there a cure/medications for localized epidermolysis bullosa?
Medications can help control pain and itching and treat further complications that are caused. Apart from that,
- Lifestyle changes and home care are the initial treatments for Localized Epidermolysis bullosa.
- Oral antibiotics are prescribed if the wounds show signs of widespread infection.
- Supportive care is needed to keep the skin from blistering,
- use of coverings that are gentle on the skin and assist the healing of open wounds.
- New blisters should be lanced and drained. Dressings are composed of three layers: a primary non-adherent contact layer, a secondary layer that provides stability, cushioning, and drainage absorption, and a tertiary layer with elastic qualities.
- Prevention of initial symptoms: Aluminum chloride (20%) administered to the palms and soles of some EBS patients can minimize blister formation. Some people can reduce blistering by taking cyproheptadine, tetracycline, erythromycin, or botulinum toxin. Keratolytics and softening medicines may help to reduce tissue thickening and breaking in palmar plantar hyperkeratosis.
- Secondary problems can be avoided by monitoring for wound infection and treating it with topical and/or systemic antibiotics or silver-impregnated dressings or gels. Infants and toddlers with oral signs of EBS may require nutritional support and feeding therapy. Fluid and electrolyte issues in critically ill newborns are managed.
- Suitable footwear and physical treatment may help children who have difficulties walking due to blistering and hyperkeratosis maintain their ambulation.
Symptoms
Poor nail formation,Oral mucosal blisters,Millium cyst,Red-blue papule,Thin, atrophic scars,Plantar hyperkeratosis,Sweating, increased,Upper limb pain,Tingling,Subepidermal blistering with cleavage in the lamina lucida,Skin itching,Foot pain,Skin bullae
Conditions
Oral mucosal blisters,Nail dystrophy,Mixed hypo- and hyperpigmentation of the skin,Erythematous papule,Plantar hyperkeratosis,Palmar hyperkeratosis,Hyperhidrosis,Paresthesia,Pruritus
Drugs
Aluminum chloride (20%),Cyproheptadine,Tetracycline,Erythromycin, or botulimun toxin
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