Urbach–Wiethe disease

Urbach–Wiethe disease (pronounced: oor-bahk vee-thuh disease) is a rare genetic disorder characterized by a variety of symptoms, most notably the hardening of skin and certain internal organs.

Etymology

The disease is named after Erich Urbach and Camilo Wiethe, the two physicians who first described the condition in 1929.

Symptoms

The most common symptom of Urbach–Wiethe disease is the hardening and thickening of the skin, often described as "waxy". This can lead to changes in physical appearance and limited mobility. Other symptoms can include hoarseness, difficulty swallowing, and in some cases, neurological issues such as seizures or memory loss.

Causes

Urbach–Wiethe disease is caused by mutations in the ECM1 gene. This gene provides instructions for making a protein that is involved in the structure and function of connective tissue. The mutations that cause Urbach–Wiethe disease disrupt the normal function of this protein, leading to the symptoms of the disease.

Diagnosis

Diagnosis of Urbach–Wiethe disease is typically based on the characteristic symptoms and confirmed by genetic testing. The testing can identify mutations in the ECM1 gene that cause the disease.

Treatment

There is currently no cure for Urbach–Wiethe disease. Treatment is focused on managing the symptoms and may include physical therapy for mobility issues, speech therapy for voice problems, and medication for seizures.

Related Terms

• Genetic disorder
• Connective tissue
• ECM1 gene
• Erich Urbach
• Camilo Wiethe

External links

• Medical encyclopedia article on Urbach–Wiethe disease
• Wikipedia's article - Urbach–Wiethe disease

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