Introduction
The dominant dystrophic epidermolysis bullosa (DDEB) is a rare genetic skin disorder characterized by extreme skin fragility. DDEB is an autosomal dominant inheritance pattern for epidermolysis bullosa (EB), a condition in which the skin blisters and tears easily even with a small trauma or friction.
Causes
There are mutations in the COL7A1 gene that cause dominant dystrophic epidermolysis bullosa, which is responsible for making type VII collagen. A defect in type VII collagen weakens the bond between the epidermis and the dermis, causing blisters in DDEB. As a result, the epidermis and the dermis are separated by anchoring fibrils.
Due to its autosomal dominant inheritance, an affected individual only requires one copy of the mutated gene to develop the disorder. Update:
Symptoms
There are a variety of DDEB symptoms, but some of the most common ones are as follows:
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Skin blisters: These blisters usually form on exposed areas, such as the hands, feet, elbows, and knees, which may leave scars behind.
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A common feature of DDEB is thick or absent nails.
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Skin changes and scarring: Blisters often leave behind scar tissue and milia (tiny white cysts), particularly on the hands, knees, and elbows.
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Repeated blistering and scarring can lead to joint contractures, which limit joint movement.
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The mouth and other mucous membranes may also be affected by blistering in some cases, though it is less severe than other types of EB.
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Scarring over time can cause disfigurement and functional impairment in the affected area.
Diagnosis
There are several steps involved in the diagnosis of dominant dystrophic epidermolysis bullosa:
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In order to determine whether EB is likely, a healthcare provider will assess blistering, scarring, and nail abnormalities.
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During a skin biopsy, the anchoring fibrils between the epidermis and dermis are examined to determine the skin's structure.
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DDEB is differentiated from other forms of EB by genetic testing, which identifies mutations in the COL7A1 gene.
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The skin's ultrastructure and collagen levels are analyzed with electron microscopy or immunofluorescence to identify abnormalities specific to DDEB.
Treatment
Treatments for dominant dystrophic epidermolysis bullosa aim to manage symptoms and prevent complications:
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The proper care of wounds is essential to prevent infection and promote healing. Non-stick dressings and gentle handling of the skin can help reduce further trauma.
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During blistering or dressing changes, analgesics may be prescribed to relieve pain.
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Antibiotics may be required to treat or prevent infections caused by open wounds or blisters.
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By keeping the skin hydrated with emollients, further blistering can be prevented and friction can be reduced.
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If feeding is affected by oral blistering, a soft or liquid diet may be recommended.
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It may be necessary to undergo physical therapy to prevent joint contractures and maintain mobility.
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When severe scarring or contractures are preventing movement, surgery may be necessary.
Prevention
Individuals already suffering from dominant dystrophic epidermolysis bullosa cannot be prevented due to the genetic nature of the condition. To better understand the risks of passing the disease on to future generations, genetic counseling is recommended for families with a history of the disorder. DDEB families may have the option of prenatal testing or preimplantation genetic diagnosis (PGD).
Conclusion
For dystrophic epidermolysis bullosa to be managed effectively, ongoing management is needed. In order to make informed decisions about family planning, families with a history of DDEB should consider genetic counseling and proper wound care. Early diagnosis, proper wound care, and a multidisciplinary approach can improve quality of life.
