Urbach–Wiethe disease

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Urbach–Wiethe disease (also known as lipoid proteinosis) is a rare genetic disorder characterized by the deposition of a glycoprotein material in the skin, mucous membranes, and various internal organs. The disease is named after the two scientists, Erich Urbach and Camillo Wiethe, who first described it in 1929.

Clinical Features

The clinical manifestations of Urbach–Wiethe disease are diverse and can affect multiple systems in the body. Common features include:

• **Skin**: Thickening of the skin, particularly around the face and neck, leading to a waxy appearance. Verrucous lesions may also be present.
• **Mucous Membranes**: Hoarseness due to thickening of the vocal cords, which can lead to difficulty speaking.
• **Neurological**: Calcifications in the temporal lobe of the brain, particularly the amygdala, which can result in a variety of neurological symptoms, including seizures and emotional disturbances.

Pathophysiology

Urbach–Wiethe disease is caused by mutations in the ECM1 gene, which encodes the extracellular matrix protein 1. This protein is involved in the structural integrity of the skin and other tissues. Mutations in ECM1 lead to the abnormal deposition of glycoprotein material, resulting in the characteristic symptoms of the disease.

Diagnosis

Diagnosis of Urbach–Wiethe disease is typically based on clinical findings and confirmed by genetic testing. Skin biopsy may show characteristic histological features, such as the presence of periodic acid-Schiff (PAS)-positive material.

Treatment

There is currently no cure for Urbach–Wiethe disease. Treatment is symptomatic and supportive, focusing on managing individual symptoms. For example, dermatological treatments may be used for skin lesions, and speech therapy may help with vocal cord involvement.

Epidemiology

Urbach–Wiethe disease is extremely rare, with only a few hundred cases reported worldwide. It affects both males and females equally and can present at any age, although symptoms often begin in childhood.

See Also

• Genetic disorder
• ECM1
• Temporal lobe
• Amygdala
• Seizures

External Links

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