Acral peeling skin syndrome

Acral peeling skin syndrome is often caused by mutations in the TGM5 gene. This gene provides instructions for making an enzyme called transglutaminase 5, which is a component of the epidermis (the outer layer of skin). Transglutaminase 5 plays a critical role in the formation of a structure called the cornified cell envelope, which surrounds epidermal cells and helps the skin form a protective barrier between the body and the environment.

TGM5 gene mutations reduce the production of transglutaminase 5 or prevent cells from making any of the protein. A shortage or absence of this protein weakens the cornified cell envelope, allowing the outermost cells of the epidermis to separate easily from the underlying skin and peel off. This peeling is most noticeable on the hands and feet because these areas are more frequently exposed to moisture and friction.

More recently, recessive loss of function mutations in the CSTA gene have been linked to this condition.

Acral peeling skin syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

• 25% (1 in 4) chance to be affected
• 50% (1 in 2) chance to be an unaffected carrier like each parent
• 25% (1 in 4) chance to be unaffected and not be a carrier

There is no cure for acral peeling skin syndrome. Treatment is centered on preventing skin damage and addressing symptoms as they occur. Emollients are often used to reduce skin peeling. If blister develop, they may be lanced with a sterile needle. Light dressings should be applied to prevent infection. The condition may be made worse by hot temperatures, high humidity, and friction. Individuals with acral peeling skin syndrome should avoid these condition, when possible. Immersion in water should also be avoided.

Additional treatment information and tips for daily living are available through the Information Leaflet for Parents/Carers which was developed by the Birmingham Children's Hospital NHS Foundation Trust.

Debra UK and the Birmingham Children's Hospital have developed an information leaflet for parents and caregivers about acral peeling skin syndrome. Click on the link to access this document.