Epidermolysis bullosa simplex

From WikiMD.org
Jump to navigation Jump to search

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

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski