Junctional epidermolysis bullosa (medicine)

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Junctional epidermolysis bullosa (JEB) is a group of genetic disorders that primarily affect the skin and, less commonly, the mucous membranes. It is characterized by blister formation within the lamina lucida of the basement membrane zone.

Signs and Symptoms[edit | edit source]

JEB is typically evident at birth with the presence of widespread blistering. The blisters may appear in response to minor injury or friction, such as rubbing or scratching. Other symptoms may include nail dystrophy, loss of hair, and abnormal tooth development.

Causes[edit | edit source]

JEB is caused by mutations in the genes that encode for the proteins laminin-332 and type XVII collagen. These proteins play a crucial role in anchoring the epidermis to the underlying dermis. Mutations in these genes prevent the normal binding of the epidermis to the dermis, leading to the separation of these layers after minor trauma or stress.

Diagnosis[edit | edit source]

Diagnosis of JEB is based on the clinical presentation, family history, and laboratory testing. The definitive diagnosis is made by skin biopsy and subsequent immunofluorescence mapping or transmission electron microscopy.

Treatment[edit | edit source]

There is currently no cure for JEB. Treatment is supportive and aims to protect the skin, prevent blister formation, and manage complications. This may involve the use of protective bandages, avoidance of trauma, and aggressive treatment of infections.

Prognosis[edit | edit source]

The prognosis of JEB varies depending on the subtype and severity of the disease. Some forms of JEB, such as JEB generalized severe, are lethal in infancy. Other forms, such as JEB generalized intermediate, may allow for survival into adulthood with intensive supportive care.

See Also[edit | edit source]

References[edit | edit source]


Junctional epidermolysis bullosa (medicine) Resources

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Contributors: Prab R. Tumpati, MD