Introduction
Epidermolysis bullosa is a type of dystrophic epidermolysis bullosa. In this condition, the skin becomes extremely brittle and prone to blistering. In addition, blisters and skin erosions develop in reaction to slight trauma or friction, such as rubbing or scratching. A mild case of dystrophic epidermolysis bullosa presents as blisters that mostly appear on the feet, hands, knees, and elbows. In difficult situations, this condition causes extensive blistering, which can leave scars and cause serious medical issues like vision loss.
What Are the Types of Dystrophic Epidermolysis Bullosa?
Based on the pattern of heredity and characteristics, dystrophic epidermolysis bullosa is divided into the following:
Recessive Dystrophic Epidermolysis Bullosa:
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It is the most severe form of illness. Infants with this condition frequently have extensive blistering on the skin, usually due to birth trauma. In addition, the blisters leave behind serious scars as they heal.
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Blisters typically damage mucous membranes of the mouth, digestive tract, and entire body.
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Chronic malnutrition and sluggish growth can result from difficulty swallowing and chewing food due to oral and esophageal scarring.
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The other problems of persistent scarring are a skin fusion between the fingers and toes, joint contractures that limit movement, the loss of fingernails and toenails, and eye inflammation that results in vision loss.
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In addition, individuals with recessive dystrophic epidermolysis bullosa have a very high chance of getting squamous cell carcinoma, a type of skin cancer, in their early adult years.
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These Individuals frequently have particularly aggressive and life-threatening cancers.
Dominant Dystrophic Epidermolysis Bullosa:
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It is a significant subtype of this illness. However, the signs and symptoms are typically less severe than those of the recessive types. Blistering frequently affects the feet, hands, knees, and elbows only.
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Scarring occurs after the blisters heal, but it is not as severe as in recessive versions of this illness.
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The only symptom of the illness is deformed nails in the mildest cases.
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Most of those affected have deformed fingernails and toenails, and the nails may eventually fall out.
What Is the Prevalence of Dystrophic Epidermolysis Bullosa?
According to research, 3.3 per million persons have dystrophic epidermolysis bullosa, which can be recessive or dominant.
What Are the Causes of Dystrophic Epidermolysis Bullosa?
Collagens are the primary constituent of anchoring fibrils, which attach the epidermis to the dermis(the layer beneath) and provide the skin, ligaments, tendons, and connective tissues’ shape and sturdiness. All dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. In addition, type VII collagen subunit protein synthesis is disrupted or altered by COL7A1 gene mutations.
Milder dystrophic epidermolysis bullosa is caused by mutations that allow a partially functional type VII collagen to be generated. The synthesis of anchoring fibrils is hampered by defective or absent type VII collagen. Because of friction or other slight stress, the epidermis and dermis may separate if there are not enough of these fibrils to maintain the connection between them. Blisters are created due to this separation; they may leave significant scarring as they heal.
How Is Dystrophic Epidermolysis Bullosa Diagnosed?
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Molecular Genetic Testing: It identifies the recessive and dominant types of dystrophic epidermolysis bullosa. Only COL7A1 is known to have pathogenic mutations.
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Skin Biopsy: Without a diagnosis from molecular genetic testing, a skin biopsy will require direct immunofluorescence (IF) or electron microscopy (EM) to identify particular cutaneous markers.
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However, it is determined that a biopsy is required for the diagnosis. In that case, it should be taken from the leading edge of a fresh blister less than 12 hours old or a mechanically induced blister and include some normal adjacent skin. Older blisters go through changes that may mask the diagnostic morphology. Therefore, excisions by elliptical or shaving are frequently employed.
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Immunofluorescence (IF): This antibody or antigen mapping is used to examine a skin biopsy to diagnose dystrophic epidermolysis bullosa. Direct IF may show the degree of skin clefting and aid in defining the general dystrophic epidermolysis bullosa type categorization. In addition, the type of dystrophic epidermolysis bullosa may be determined even in the absence of a split by the presence or lack of particular proteins in the skin.
What Is the Treatment for Dystrophic Epidermolysis Bullosa?
Dermatologic Issue: Blisters should typically be lanced and drained to stop the spread of fluid pressure. Most blister and erosion treatments consist of three layers:
Base Layer: A main dressing that is non-adherent and does not cling to the skin. Different main layers are tolerated differently.
The following may be considered a primary layer:
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Products that are not sticky with silicone or without silicone.
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Dressings coated or impregnated with a topical antibacterial or emollient such as silver, medical-grade honey, or topical antibiotics if there is an infection.
Secondary Layer: It consists of padding for protection and stability for the top layer.
Tertiary Layer: Typically, this layer has some elastic qualities that protect the primary and secondary dressings. Non-healing wounds may require temporary skin grafts from pigs, human corpses, or biological skin substitutes.
Others: Careful management is necessary for fluid and electrolyte issues, which can be serious and fatal. Red blood cell transfusions, intravenous iron infusions, and oral iron supplements can all be used to treat anemia, a chronic complication of recessive dystrophic epidermolysis bullosa.
The following are treatments for other dietary deficiencies:
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Supplemental calcium.
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Vitamin D.
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Injectable bisphosphonates.
Conclusion
Dystrophic epidermolysis bullosa, a hereditary skin disorder, damages skin and nails. The two main varieties are dominant and recessive dystrophic epidermolysis bullosa. Skin fragility, manifested by blistering, is a clinical feature in severe widespread types. While blistering is frequently minor and only affects the hands, feet, knees, and elbows, it nevertheless heals with scarring. Dystrophic nails are widespread, particularly in the toenails. The major issues influencing the quality of life include pain and itching. Cesarean delivery may lessen skin harm during birthing if a fetus is affected by dystrophic epidermolysis bullosa. In addition, it is possible to perform prenatal and genetic testing for a fetus at elevated risk once an affected family member's COL7A1 pathogenic variants have been detected. The condition does cause complications, but the life expectancy depends on the variant, and management should be tailored accordingly.
