About non-scarring epidermolysis bullosa

What is non-scarring 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 non-scarring 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 non-scarring epidermolysis bullosa?

Non-scarring epidermolysis bullosa is a disease that results from mutations in KRT5 or KRT14 gene. These genes provide instructions for making a protein called keratin 5 and 14. There are two major types, and seventeen minor subtypes for this disease, all of which have common effects and symptoms.
Among these, the four major subtypes of EBS are here:

  • EBS-loc- in this, blisters are rarely present at birth and may occur on the knees and feet; in some cases, these blisters can be shown anywhere in the body.
  • EBS, gen intermed-blisters may be present at the time of birth r may develop after few months
  • EBS-MP- symptoms are present at birth, and over time, progressive brown pigmentation is interspersed and develops on the trunk and in other places, which disappears in adult life.
  • EBS-gen sev- blisters are presents at birth varies greatly, in this widespread or clusters of blisters and hemorrhagic blisters are common.
  • In genetic studies, pathogenic variants in EXPH5 or TGM5 is inherited in an autosomal recessive manner. EBS caused by pathogenic variants in KRT5 or KRT14 is usually inherited in an autosomal dominant manner and it can be diagnosed by skin biopsy.
  • The complications from this disease are infections, sepsis, and fusion of fingers, problems with neutrinos, constipation, dental problems, and skin cancer.
  • Mainly in supportive treatments, skin protection from blistering and appropriate dressings is required for healing of skin; three-layer dressings are required.


Symptoms
Fragile skin that blisters easily, especially on the hands and feet,Nails that are thick or don't form,Blisters inside the mouth and throat,Thickened skin on the palms and soles of the feet,Scalp blistering, scarring and hair loss (scarring alopecia),Thin-appearing skin (atrophic scarring)
Conditions
Skin blister and tear easily,Painful blisters on the hands, elbows, knees and feet
Drugs
Surgery,Gene therapy,Bone marrow (stem cell) transplantation,Protein replacement therapies,Cell-based therapies



Is there a cure/medications for non-scarring epidermolysis bullosa?

Non-scarring epidermolysis bullosa is the fragility of skin and results in blisters and erosions caused by mechanical trauma.

There is no cure for EBS, but supportive care can be needed for this consultation from a dermatologist and genetic counselor.
Mainly in supportive treatments, skin protection from blistering and appropriate dressings is required for healing of skin; three-layer dressings are required.

  • To reduce blister formation, aluminum chloride is applied in palm and soles.
  • In some cases, injection of botulinum toxin into the feet is effective in reducing blistering and associated pain.
  • Cyproheptadine is also used to reduce blisters
  • Tetracycline is also used to reduce blisters in some cases of studies.
  • Uses of keratolytic and softening agents such as urea also give benefits in this dieses
  • Soaking hands and feet in salt water also give improvement for softening of the skin.
  • Infection is the most complication in these cases, so to keep an eye on wound infections and treatment with systemic antibiotics or silver-impregnated dressings or gels can be helpful.
  • Excessive heat, poorly fitting clothing and foot wares, and skin-damaging physical activities should be avoided in these conditions.


Symptoms
Fragile skin that blisters easily, especially on the hands and feet,Nails that are thick or don't form,Blisters inside the mouth and throat,Thickened skin on the palms and soles of the feet,Scalp blistering, scarring and hair loss (scarring alopecia),Thin-appearing skin (atrophic scarring)
Conditions
Skin blister and tear easily,Painful blisters on the hands, elbows, knees and feet
Drugs
Surgery,Gene therapy,Bone marrow (stem cell) transplantation,Protein replacement therapies,Cell-based therapies



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