Erythrokeratolysis hiemalis ichthyosis

Erythrokeratolysis hiemalis ichthyosis
Synonyms	Winter ichthyosis
Pronounce	N/A
Specialty	N/A
Symptoms	Red, scaly skin patches
Complications	N/A
Onset	Childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Moisturizers, keratolytics, retinoids
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Erythrokeratolysis hiemalis ichthyosis, also known as winter ichthyosis, is a rare genetic skin disorder characterized by red, scaly patches of skin that typically worsen during the winter months. This condition is a form of ichthyosis, a group of disorders that cause dry, scaly skin.

Presentation

Patients with erythrokeratolysis hiemalis ichthyosis usually present with well-demarcated, erythematous plaques covered with thick scales. These lesions are most commonly found on the extensor surfaces of the limbs, but they can also appear on the trunk and face. The condition is exacerbated by cold weather, hence the name "winter ichthyosis."

Pathophysiology

Erythrokeratolysis hiemalis ichthyosis is caused by mutations in genes responsible for skin barrier function. These mutations lead to abnormal keratinization, resulting in the characteristic scaling and erythema. The exact genetic mutations involved can vary, and the condition is often inherited in an autosomal dominant pattern.

Diagnosis

Diagnosis is primarily clinical, based on the appearance of the skin and the patient's history. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. A skin biopsy may be performed to rule out other conditions with similar presentations.

Treatment

Treatment focuses on managing symptoms and improving skin barrier function. Regular use of emollients and moisturizers is essential to reduce dryness and scaling. Keratolytic agents, such as salicylic acid, can help remove scales. In more severe cases, systemic retinoids may be prescribed to normalize skin cell turnover.

Prognosis

Erythrokeratolysis hiemalis ichthyosis is a lifelong condition, but symptoms can be managed effectively with appropriate treatment. Patients may experience periods of remission, especially during warmer months.

Also see

• Ichthyosis vulgaris
• X-linked ichthyosis
• Lamellar ichthyosis
• Erythrokeratodermia variabilis

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