Progressive symmetric erythrokeratodermia

Progressive symmetric erythrokeratodermia (PSEK) is a rare genetic disorder that affects the skin. It is characterized by well-defined, symmetric, erythematous, and hyperkeratotic plaques. The condition is typically present at birth or appears in early childhood.

Symptoms

The primary symptom of PSEK is the presence of red, scaly patches on the skin. These patches are usually symmetric and can be found on the limbs, buttocks, and sometimes the face. The severity of the symptoms can vary greatly from person to person. Some individuals may experience mild symptoms, while others may have severe skin abnormalities.

Causes

PSEK is caused by mutations in the loricrin gene. This gene provides instructions for making a protein that is a major component of the cornified cell envelope, a structure that provides strength and resilience to the skin. Mutations in the loricrin gene disrupt the normal formation of the cornified cell envelope, leading to the skin abnormalities seen in PSEK.

Diagnosis

Diagnosis of PSEK is based on the clinical presentation of the skin abnormalities. A skin biopsy may be performed to confirm the diagnosis. Genetic testing can also be used to identify mutations in the loricrin gene.

Treatment

There is currently no cure for PSEK. Treatment is aimed at managing the symptoms and may include the use of emollients, keratolytics, and retinoids. In some cases, systemic retinoids may be used to reduce the thickness of the skin.

Prognosis

The prognosis for individuals with PSEK is generally good. The condition does not affect life expectancy, but it can cause significant discomfort and cosmetic concerns.

See also

• Erythrokeratodermia
• Ichthyosis
• Genodermatoses

Progressive symmetric erythrokeratodermia Resources
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