Lipoid proteinosis of Urbach and Wiethe

Childhood apraxia of speech, CAS, Developmental verbal dyspraxia, DVD, Speech and language disorder with orofacial dyspraxia

Overview

Type of disease: Rare conditions

Lipoid proteinosis of Urbach and Weithe is a rare storage disease caused by abnormal depositing of lipids, carbohydrates and proteins onto the walls of blood vessels and other tissues. Hence, indiividuals with this disease often show a variety of symptoms, though the skin is often the most likely target. Symptoms can include a hoarse voice, skin scarring, easily damaged skin, poor wound healing, and dry, wrinkly skin. All of these symptoms can result in the thickening of the skin and mucous linings. In rare cases, the disease has been shown to thicken brain tissue, increasing the likelihood of epilepsy. Doctors diagnose this condition early, since the symptoms are apparent. Due to the variety of symptoms, treatment is given on a case-by-case basis and depends on the needs of the patient. Doctors often provide analgesic (pain) medication to relieve an individual’s pain. This disease is typically not life-threatening and patients do not on average have a decreased life span.

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