Epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis (pronunciation: epi-dermo-lytic hyper-keratosis) is a rare genetic skin disorder, characterized by blistering and thickening of the skin.

Etymology

The term "Epidermolytic hyperkeratosis" is derived from three Greek words: "epi" meaning over or upon, "derma" meaning skin, "lysis" meaning loosening, and "hyperkeratosis" meaning excessive growth of the horny layer of the skin.

Definition

Epidermolytic hyperkeratosis is a skin disorder that is present at birth and affects the skin cells' ability to adhere to each other. This results in the formation of blisters and scaling of the skin.

Symptoms

The symptoms of Epidermolytic hyperkeratosis include blistering, scaling, and redness of the skin. The severity of the symptoms can vary from person to person.

Causes

Epidermolytic hyperkeratosis is caused by mutations in the KRT1 or KRT10 genes. These genes provide instructions for making proteins that form intermediate filaments, which provide strength and resilience to cells.

Treatment

Treatment for Epidermolytic hyperkeratosis primarily involves managing the symptoms. This can include the use of emollients to moisturize the skin and keratolytics to help remove excess skin cells.

Related Terms

• Keratinocyte
• Keratin
• Genetic disorder
• Mutation

External links

• Medical encyclopedia article on Epidermolytic hyperkeratosis
• Wikipedia's article - Epidermolytic hyperkeratosis

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