Junctional epidermolysis bullosa (medicine)

Junctional epidermolysis bullosa
Synonyms	JEB
Pronounce	N/A
Specialty	N/A
Symptoms	Blistering of the skin and mucous membranes, nail dystrophy, alopecia, dental enamel hypoplasia
Complications	Infection, sepsis, anemia, failure to thrive
Onset	Neonatal
Duration	Chronic
Types	Herlitz type, Non-Herlitz type
Causes	Genetic mutation in LAMA3, LAMB3, or LAMC2 genes
Risks	Family history
Diagnosis	Skin biopsy, genetic testing
Differential diagnosis	Epidermolysis bullosa simplex, Dystrophic epidermolysis bullosa
Prevention	N/A
Treatment	Wound care, pain management, nutritional support, infection prevention
Medication	Antibiotics, analgesics
Prognosis	Varies, severe forms may be life-threatening
Frequency	1 in 450,000 births
Deaths	N/A

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

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

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

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

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

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

• Epidermolysis bullosa
• Genetic disorder
• Skin biopsy

References

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