Peeling skin syndrome

Other Names: 

Deciduous skin; Familial continuous skin peeling syndrome; Idiopathic deciduous skin; Keratosis exfoliativa congenita; PSS; Peeling skin disease

Summary

Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can appear anytime from birth to adulthood, but usually occur by childhood. There are two forms of PSS. In the generalized form, skin peeling involves most of the body. The generalized form has two subtypes, noninflammatory and inflammatory. There is an acral form in which skin peeling is limited to the hands and feet. PSS is caused by genetic variants in several different genes and is inherited in an autosomal recessive pattern of inheritance. PSS is diagnosed based on the symptoms. Other more common conditions may need to be excluded.

About Peeling skin syndrome

Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:

• Population Estimate:This section is currently indevelopment.
• Symptoms:May start to appear as a Newborn and as an Infant.
• Cause:This disease is caused by a change in the genetic material (DNA).
• Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
• Categories:Genetic DiseasesSkin Diseases

Genetic Changes

Peeling skin syndrome is caused by harmful genetic changes, also known as pathogenic variants. Genetic changes can occur randomly, as a result of environmental factors, from parents passing them down to their children, or a combination of these. Additionally, they can occur before birth or at any time during a person's life. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

Autosomal Recessive

"Autosomal" means the gene involved is located on one of the numbered chromosomes. "Recessive" means that a child must inherit two copies of the pathogenic variant, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the pathogenic variant. A carrier usually doesn't show any symptoms of the disease.

If both biological parents are carriers, there is a 25% their child inherits both copies of the pathogenic variant and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the pathogenic variant and is a carrier.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of Peeling skin syndrome Begin?

Symptoms of this disease may start to appear as a Newborn and as an Infant.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.