Epidermolytic hyperkeratosis

Epidermolytic hyperkeratosis is a rare skin disorder that becomes evident soon after birth and is characterized by thickened, rough, and scaly skin.

Symptoms

The symptoms of Epidermolytic hyperkeratosis include:

• Skin redness
• Skin blistering
• Skin peeling
• Skin thickening

Causes

Epidermolytic hyperkeratosis is caused by mutations in the KRT1 or KRT10 genes. These genes provide instructions for making proteins that are essential for the structure and function of skin cells.

Diagnosis

The diagnosis of Epidermolytic hyperkeratosis is based on the clinical features, the family history, and the results of skin biopsy.

Treatment

The treatment of Epidermolytic hyperkeratosis is aimed at managing the symptoms and includes the use of moisturizers and keratolytics.

Prognosis

The prognosis of Epidermolytic hyperkeratosis is generally good, but the condition is lifelong and the symptoms can be severe.

See also

• Keratin
• Skin disorders
• Genetic disorders

References

Epidermolytic hyperkeratosis Resources
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