Skin peeling syndrome
Skin Peeling Syndrome (also known as Acral Peeling Skin Syndrome or APSS) is a rare genetic skin disorder characterized by continuous peeling of the skin. It is often painless and the skin underneath is usually normal.
Causes[edit | edit source]
Skin Peeling Syndrome is caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which helps form the cornified cell envelope (CCE), a structure that strengthens the skin's outermost layer. Mutations in the TGM5 gene reduce or eliminate the function of transglutaminase 5, which disrupts the formation of the CCE and weakens the skin's protective barrier. This leads to the skin peeling seen in people with this condition.
Symptoms[edit | edit source]
The main symptom of Skin Peeling Syndrome is the continuous peeling of the outermost part of the skin, the epidermis. This peeling often begins in infancy or early childhood. The skin underneath the peeled skin is usually smooth and normal, although it can be red and irritated. Other symptoms may include itching, redness, and the formation of blisters.
Diagnosis[edit | edit source]
Diagnosis of Skin Peeling Syndrome is usually based on the clinical presentation of the skin symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the TGM5 gene.
Treatment[edit | edit source]
There is currently no cure for Skin Peeling Syndrome. Treatment is focused on managing the symptoms and may include the use of emollients and keratolytic agents to soothe and protect the skin. In some cases, oral retinoids may be used.
See also[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Skin peeling syndrome is a rare disease.
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