Peeling skin syndrome

Gould Pyle 290

Peeling skin syndrome (PSS) is a rare genetic disorder characterized by the continuous shedding of the outermost layer of the skin (epidermis). This condition is also known as exfoliative ichthyosis or deciduous skin. PSS can present at birth or develop later in life and is typically classified into several subtypes based on clinical features and genetic causes.

Classification

Peeling skin syndrome is classified into two main types:

• Non-inflammatory PSS
• Inflammatory PSS

Non-inflammatory PSS

Non-inflammatory PSS is characterized by painless peeling of the skin without any associated redness or inflammation. This type is often caused by mutations in the TGM5 gene, which encodes the enzyme transglutaminase 5, essential for the formation of the skin barrier.

Inflammatory PSS

Inflammatory PSS, on the other hand, involves peeling of the skin accompanied by redness, itching, and sometimes blistering. This type can be caused by mutations in the CHST8 gene, which encodes an enzyme involved in the sulfation of proteins and lipids.

Symptoms

The primary symptom of PSS is the painless peeling of the outermost layer of the skin. Other symptoms may include:

• Redness and inflammation (in inflammatory PSS)
• Itching
• Blistering
• Dry skin

Genetics

Peeling skin syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Carriers, who have only one copy of the mutated gene, typically do not show symptoms.

Diagnosis

Diagnosis of PSS is based on clinical examination and genetic testing. A dermatologist may perform a skin biopsy to examine the structure of the skin and identify any abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the TGM5 or CHST8 genes.

Treatment

There is no cure for peeling skin syndrome, and treatment is primarily focused on managing symptoms. This may include:

• Moisturizers to keep the skin hydrated
• Topical steroids to reduce inflammation
• Antihistamines to relieve itching

Prognosis

The prognosis for individuals with PSS varies depending on the severity of the condition. While the condition is chronic and requires ongoing management, it is not typically life-threatening.

Related Pages

• Epidermis
• Ichthyosis
• Genetic disorder
• Autosomal recessive
• Dermatology