JEB

Junctional Epidermolysis Bullosa (JEB) is a rare genetic disorder that primarily affects the skin and mucous membranes. It is characterized by blister formation within the lamina lucida of the basement membrane zone.

Symptoms[edit | edit source]

The symptoms of JEB vary widely among affected individuals. They may include:

Blister formation on the skin and mucous membranes
Skin fragility
Nail dystrophy
Dental abnormalities
Scarring
Alopecia (hair loss)
Anemia
Growth retardation
Respiratory problems
Dysphagia (difficulty swallowing)

Causes[edit | edit source]

JEB is caused by mutations in the genes that encode for the proteins laminin-332, type XVII collagen, and integrin α6β4. These proteins are essential for the proper formation and functioning of the hemidesmosome, a structure that helps attach the epidermis (the outer layer of skin) to the underlying dermis.

Diagnosis[edit | edit source]

The diagnosis of JEB is typically made based on the presence of characteristic clinical features. This may be confirmed by skin biopsy, electron microscopy, immunofluorescence mapping, and/or genetic testing.

Treatment[edit | edit source]

There is currently no cure for JEB. Treatment is primarily supportive and may include:

Wound care to prevent infection and promote healing
Pain management
Nutritional support
Physical and occupational therapy
Regular dental care
Regular monitoring for complications

Prognosis[edit | edit source]

The prognosis for individuals with JEB varies widely and depends on the specific subtype of the disorder. Some individuals with milder forms of JEB may have a normal lifespan, while those with more severe forms may experience life-threatening complications in infancy or early childhood.

See also[edit | edit source]

JEB Resources
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