Acral peeling skin syndrome has been linked to mutations in the gene transglutaminase 5 (TGM5) and has less commonly been linked to mutations in the gene cystatin A (CSTA).
TGM5 is responsible for telling your body to create the TGM5 enzyme, which is found in many tissues, including your epidermis. The TGM5 enzyme helps create the cornified cell that acts as a protective barrier between your skin and the outside world.
If you don’t produce the TGM5 enzyme, the outermost layer of your skin can easily separate and peel off. Your hands and feet tend to be most affected because they’re the parts of your body most exposed to moisture and friction.
The gene CSTA codes for the CSTA enzyme, which plays a role in cell to cell adhesion.
Gene mutations linked to the development of acral peeling skin syndrome are inherited in an autosomal recessive pattern. To develop symptoms, you need to receive one copy of the mutated gene from both of your parents.
If you only receive a gene mutation from one parent, you’ll be a carrier of the gene mutation but won’t develop symptoms. Your parents don’t need to have symptoms to be carriers.
If both parents have the gene mutation:
- a child has a 25 percent chance of developing symptoms
- a child has a 50 percent chance of carrying the gene mutation but not developing symptoms
- a child has a 25 percent chance of neither carrying the gene mutation nor developing symptoms