Peeling skin syndrome 2

Peeling skin syndrome 2 is a rare skin disorder characterized by the painless, spontaneous peeling of the top layer of the skin, particularly on the hands and feet.

Overview

Peeling skin syndrome 2 is a condition where the top layer of the skin peels away. This peeling is most apparent on the hands and feet, though it can occasionally affect the arms and legs. The condition typically begins shortly after birth, though it may start in childhood or later. While the underlying skin may be red and itchy, it generally heals without scarring, and the condition is not associated with other health problems.

Symptoms

• Painless peeling of the epidermis (top layer of skin).
• Peeling is exacerbated by heat, humidity, moisture, and friction.
• Temporary redness and itching of the skin beneath the peeled area.

Causes

The disorder is caused by variants in the TGM5 gene, which provides instructions for making the enzyme transglutaminase 5. This enzyme is essential for forming the cornified cell envelope, a structure that surrounds epidermal cells and provides a protective barrier for the skin. Variants in TGM5 reduce or eliminate the activity of this enzyme, weakening the skin's protective barrier and causing the outermost cells to separate and peel off easily.

Inheritance

Peeling skin syndrome 2 is inherited in an autosomal recessive pattern. This means that both copies of the TGM5 gene in each cell must have a variant for the disorder to occur. Parents of an affected individual each carry one copy of the altered gene but do not typically exhibit symptoms of the condition.