[1][2][3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe,[4][5] although cases may be recognized dating back as early as 1908.

In some cases there is also a hardening of brain tissue in the medial temporal lobes, which can lead to epilepsy and neuropsychiatric abnormalities.

Some researchers are examining patients with Urbach–Wiethe disease to learn more about other conditions that exhibit similar neurological symptoms, such as autism.

[6] This is often the result of poor wound healing and the scarring continues to increase as the patient ages, leaving the skin with a waxy appearance.

Skin may be easily damaged as a result of only a minor trauma or injury, leaving many blisters and additional scars.

White or yellow infiltrates form on the lips, buccal mucosa, tonsils, uvula, epiglottis and frenulum of the tongue.

Some other dermatological symptoms that are sometimes seen but less common include hair loss, parotitis and other dental abnormalities, corneal ulceration, and focal degeneration of the macula.

The discovery that the loss of ECM1 expression leads to the symptoms associated with Urbach–Wiethe disease suggests that ECM1 may contribute to skin adhesion, epidermal differentiation, and wound healing and scarring.

[9] The nature of this material is unknown, but researchers have suggested that it may be a glycoprotein, a glycolipid, an acid mucopolysaccharide, altered collagen or elastic tissue.

This is partly due to the fact that not all Urbach-Wiethe patients exhibit calcifications, but also because similar lesions can be formed from other diseases such as herpes simplex and encephalitis.

The discovery of mutations within the ECM1 gene has allowed the use of genetic testing to confirm initial clinical diagnoses of Urbach–Wiethe disease.

Carbon dioxide laser surgery of thickened vocal cords and beaded eyelid papules have improved these symptoms for patients.

[2] The life expectancy of these patients is normal as long as the potential side effects of thickening mucosa, such as respiratory obstruction, are properly addressed.

[10] Although this may require a tracheostomy or carbon dioxide laser surgery, such steps can help ensure that individuals with Urbach–Wiethe disease are able to live a full life.

Oral dimethyl sulfoxide (DMSO) has been shown to reduce skin lesions, helping to minimize discomfort for these individuals.

Due to its low incidence, it is difficult to find a large enough number of cases to adequately study the disease.

[citation needed] In 1908, what appears to be the first case of Urbach–Wiethe disease was reported by Friedrich Siebenmann, a professor of otolaryngology in Basel, Switzerland.