Urbach Wiethe disease

Urbach-Wiethe Disease Urbach-Wiethe disease, also known as lipoid proteinosis, is a rare genetic disorder characterized by the deposition of hyaline material in the skin, mucous membranes, and internal organs. This condition is named after the scientists Erich Urbach and Camillo Wiethe, who first described it in 1929.

Clinical Features

The clinical manifestations of Urbach-Wiethe disease can vary widely among individuals, but common features include:

• Skin Lesions: Patients often develop thickened skin, particularly on the face and extremities. The skin may appear waxy or yellowish and can be prone to scarring.
• Mucosal Involvement: Thickening of the mucous membranes can lead to hoarseness, difficulty swallowing, and respiratory issues.
• Neurological Symptoms: Some patients exhibit neurological symptoms due to calcifications in the brain, particularly in the medial temporal lobes, which can affect emotional processing and memory.

Pathophysiology

Urbach-Wiethe disease is caused by mutations in the ECM1 gene, which encodes extracellular matrix protein 1. This protein plays a crucial role in skin integrity and the maintenance of various tissues. The mutations lead to the abnormal deposition of hyaline material, which is responsible for the clinical symptoms.

Diagnosis

Diagnosis of Urbach-Wiethe disease is based on clinical examination, family history, and genetic testing to identify mutations in the ECM1 gene. Biopsy of affected skin or mucosa can reveal characteristic histological findings, such as the presence of periodic acid-Schiff (PAS)-positive deposits.

Treatment

There is no cure for Urbach-Wiethe disease, and treatment is primarily symptomatic. Management strategies may include:

• Dermatological Care: Use of emollients and other skin care products to manage skin lesions.
• Speech Therapy: To address hoarseness and speech difficulties.
• Surgical Interventions: In some cases, surgical removal of lesions may be considered.

Prognosis

The prognosis for individuals with Urbach-Wiethe disease varies. While the condition is chronic and can lead to significant morbidity, it is not typically life-threatening. Early diagnosis and management can improve quality of life.

Research and Future Directions

Ongoing research aims to better understand the molecular mechanisms underlying Urbach-Wiethe disease and to develop targeted therapies. Advances in genetic research may offer new insights into potential treatments.

See Also

• Genetic Disorders
• Dermatological Conditions
• Neurological Disorders
• Urbach, E., & Wiethe, C. (1929). "Lipoidosis cutis et mucosae." *Virchows Archiv f r pathologische Anatomie und Physiologie und f r klinische Medizin*.
• Hamada, T., et al. (2003). "Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis." *The Lancet*.

NIH genetic and rare disease info

• NIH info on Urbach Wiethe disease

Urbach Wiethe disease is a rare disease.