Introduction
A genetic disorder called junctional epidermolysis bullosa (JEB) causes extreme fragility and blistering on the skin and mucous membranes. Epidermolysis bullosa (EB), a group of disorders in which the skin is unable to withstand minor traumas and friction, is one of the major types of the disorder.
Causes
Mutations in genes that produce proteins that anchor the epidermis to the dermis (the layer beneath the skin) are responsible for junctional epidermolysis bullosa. A common cause is a mutation in the LAMB3, LAMC2, and COL17A1 genes. These genes produce proteins that form the structure between skin layers, so defects lead to blistering if these genes are defective.
The condition is inherited in an autosomal recessive manner, meaning both parents must carry the defective gene.
Symptoms
As a result of genetic mutations, symptoms of JEB can vary in severity. Common symptoms include:
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In areas of friction such as the hands, feet, elbows, and knees, blisters can form spontaneously or after minor trauma.
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Open wounds and sores can result from erosions of the skin.
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Blisters can also occur on mucous membranes, such as the mouth, throat, and eyes.
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There may be thickened or nonexistent nails in patients with nail abnormalities.
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In severe cases, blisters can cause scarring, which can lead to deformities.
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The ability to breathe can be compromised by blisters in the airway in severe cases.
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Due to oral blisters, infants with JEB may have difficulty eating, leading to poor weight gain.
Diagnosis
Junctional epidermolysis bullosa is diagnosed by:
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A dermatologist will examine the patient's skin and assess the severity and pattern of blisters.
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To determine the level of skin separation and the presence of abnormal protein structures, a small sample of skin is taken for microscopic analysis.
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In addition to confirming the diagnosis, genetic testing can also provide information about the specific type and severity of JEB.
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Using immunofluorescence mapping, you can determine which layer of the skin is affected by the protein defect.
Treatment
Treatment for junctional epidermolysis bullosa focuses on managing symptoms, preventing complications, and improving quality of life.
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To prevent infection and promote healing, wound dressings should be non-stick and non-adhesive.
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The pain associated with blistering and wound care may be reduced with analgesics.
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Preventing or treating skin infections may require antibiotics.
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Infants with feeding difficulties may require specialized diets or feeding tubes to ensure adequate nutrition.
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Scarring can cause contractures in joints, which can be prevented by physical therapy.
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In severe cases, surgery may be required to correct deformities or manage complications.
Prevention
The genetic disorder junctional epidermolysis bullosa cannot be prevented in individuals already suffering from it. Families with a history of the disorder, especially those with parents who are known carriers of the gene mutated, should seek genetic counseling. For couples at risk of passing on the disorder, prenatal genetic testing and preimplantation genetic diagnosis (PGD) may be an option.
Conclusion
Early diagnosis, effective wound care, and support from a multidisciplinary team of healthcare professionals can improve outcomes for people with junctional epidermolysis bullosa. In order to make informed decisions regarding future pregnancies, families at risk of JEB should consider genetic counseling.
