Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa (JEB) is a rare genetic skin disorder. It is characterized by the presence of fragile skin and mucous membranes that blister easily in response to minor injuries or friction.
Pronunciation
Junctional epidermolysis bullosa is pronounced as junc-tional epi-der-mo-lysis bul-lo-sa.
Etymology
The term "Junctional epidermolysis bullosa" is derived from the location of the skin layer affected (the junction between the epidermis and dermis), "epidermolysis" (from the Greek "epi" meaning "upon", "derma" meaning "skin", and "lysis" meaning "loosening"), and "bullosa" (from the Latin "bullire" meaning "to bubble") referring to the blistering that occurs.
Symptoms
The symptoms of JEB include blistering of the skin and mucous membranes, nail dystrophy, and dental abnormalities. In severe cases, it can also lead to malnutrition and anemia due to difficulties in eating and swallowing.
Causes
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 adhesion of the epidermis to the underlying dermis.
Diagnosis
Diagnosis of JEB is typically made through a combination of clinical examination, skin biopsy, and genetic testing.
Treatment
There is currently no cure for JEB. Treatment is focused on managing the symptoms and preventing complications. This may include wound care, pain management, nutritional support, and in some cases, surgical intervention.
Related Terms
See Also
External links
- Medical encyclopedia article on Junctional epidermolysis bullosa (medicine)
- Wikipedia's article - Junctional epidermolysis bullosa (medicine)
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