Ichthyosis, erythrokeratolysis hemalis

Ichthyosis Erythrokeratolysis Hiemalis (IEH), also known as Oudtshoorn skin disease, is a rare genetic disorder characterized by the seasonal appearance of red, scaly patches on the skin, predominantly during the colder months. This condition is a form of ichthyosis, a group of skin disorders that cause dry, thickened, scaly skin. The specific mutation responsible for IEH affects the skin's ability to retain moisture and produce a normal protective barrier, leading to its distinctive symptoms.

Symptoms and Diagnosis

The primary symptom of IEH is the development of erythrokeratotic plaques, which are red and scaly patches that can cause discomfort and sometimes pain. These patches often appear on the extremities, such as the hands and feet, and can also affect the trunk. The condition typically worsens in cold weather and improves during warmer months.

Diagnosis of IEH is primarily clinical, based on the appearance of the skin and the seasonal nature of the symptoms. Genetic testing can confirm the diagnosis by identifying the specific mutation associated with the condition.

Genetics

IEH is caused by mutations in a gene that is crucial for skin barrier function and hydration. This genetic mutation is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is necessary to cause the disorder. As a result, individuals with a parent who has IEH have a 50% chance of inheriting the condition.

Treatment

There is no cure for IEH, but treatments are available to manage symptoms and improve the quality of life for those affected. Moisturizers and emollients are the cornerstone of treatment, helping to hydrate the skin and reduce scaling. In more severe cases, topical retinoids or systemic treatments may be prescribed to help normalize skin cell turnover and reduce the thickness of the plaques.

Epidemiology

IEH is extremely rare, with only a few documented cases worldwide. It was first identified in the town of Oudtshoorn, South Africa, which is reflected in its alternative name, Oudtshoorn skin disease.

See Also

• Ichthyosis
• Genetic disorder
• Skin barrier

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