Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex (pronunciation: /ˌɛpɪˌdɜːrmoʊˈlaɪsɪs ˈbʊloʊsə ˈsɪmplɛks/) is a rare genetic disorder that causes the skin to become fragile and blister easily.
Etymology
The term "Epidermolysis bullosa simplex" is derived from the Greek words "epidermis" (the outer layer of skin), "lysis" (breakdown or dissolution), "bullosa" (relating to a blister or blisters), and "simplex" (simple or uncomplicated).
Symptoms
The primary symptom of Epidermolysis bullosa simplex is the formation of blisters on the skin, often in response to minor injury or friction. Other symptoms can include thickened skin on the palms and soles of the feet, and nail dystrophy.
Causes
Epidermolysis bullosa simplex is caused by mutations in the KRT5 or KRT14 genes. These genes provide instructions for making proteins that are essential for the normal formation of skin. Mutations in these genes disrupt the normal formation of skin, leading to the symptoms of Epidermolysis bullosa simplex.
Diagnosis
Diagnosis of Epidermolysis bullosa simplex is typically made through a combination of clinical examination, family history, and genetic testing. Skin biopsy may also be performed to confirm the diagnosis.
Treatment
There is currently no cure for Epidermolysis bullosa simplex. Treatment is focused on managing symptoms and preventing complications. This can include wound care, pain management, and physical therapy.
Related Terms
External links
- Medical encyclopedia article on Epidermolysis bullosa simplex
- Wikipedia's article - Epidermolysis bullosa simplex
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