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- Urbach–Wiethe_disease abstract "Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with fewer than 300 reported cases since its discovery. It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, although cases may be recognized dating back as early as 1908.The symptoms of the disease vary greatly from individual to individual. They may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids. All of these are results of a general thickening of the skin and mucous membranes. In some cases there is also a hardening of brain tissue in the medial temporal lobes, which can lead to epilepsy and neuropsychiatric abnormalities. The disease is typically not life threatening and patients do not show a decreased life span.Because Urbach–Wiethe disease is an autosomal recessive condition, individuals can be carriers of the disease but show no symptoms. The disease is caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. The dermatological symptoms are caused by a buildup of a hyaline material in the dermis and the thickening of the basement membranes in the skin. Urbach–Wiethe disease is typically diagnosed by its clinical dermatological manifestations, particularly the beaded papules on the eyelids. The discovery of the mutations within the ECM1 gene has allowed the use of genetic testing to confirm an initial clinical diagnosis. Periodic acid-Schiff (PAS) and immunohistochemical staining may also be used for diagnosis.Currently, there is no cure for Urbach–Wiethe disease although there are ways to individually treat many of its symptoms. The discovery of the mutations of the ECM1 gene has opened the possibility of gene therapy or a recombinant ECM1 protein for Urbach–Wiethe disease treatment, but neither of these options is currently available. Some researchers are examining patients with Urbach–Wiethe disease to learn more about other conditions that exhibit similar neurological symptoms, such as autism.".
- Urbach–Wiethe_disease wikiPageID "20496126".
- Urbach–Wiethe_disease wikiPageRevisionID "589720598".
- Urbach–Wiethe_disease diseasesdb "30808".
- Urbach–Wiethe_disease emedicinesubj "derm".
- Urbach–Wiethe_disease emedicinetopic "241".
- Urbach–Wiethe_disease icd "272.8".
- Urbach–Wiethe_disease icd "E78.8".
- Urbach–Wiethe_disease meshid "D008065".
- Urbach–Wiethe_disease name "Urbach-Wiethe disease".
- Urbach–Wiethe_disease omim "247100".
- Urbach–Wiethe_disease subject Category:Autosomal_recessive_disorders.
- Urbach–Wiethe_disease subject Category:Lipid_metabolism_disorders.
- Urbach–Wiethe_disease subject Category:Skin_conditions_resulting_from_errors_in_metabolism.
- Urbach–Wiethe_disease type Disease.
- Urbach–Wiethe_disease type Situation.
- Urbach–Wiethe_disease comment "Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with fewer than 300 reported cases since its discovery. It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, although cases may be recognized dating back as early as 1908.The symptoms of the disease vary greatly from individual to individual.".
- Urbach–Wiethe_disease label "Doença de Urbach-Wiethe".
- Urbach–Wiethe_disease label "Sindrome di Urbach-Wiethe".
- Urbach–Wiethe_disease label "Urbach-Wiethe-Syndrom".
- Urbach–Wiethe_disease label "Urbach–Wiethe disease".
- Urbach–Wiethe_disease label "Болезнь Урбаха — Вите".
- Urbach–Wiethe_disease sameAs Urbach%E2%80%93Wiethe_disease.
- Urbach–Wiethe_disease sameAs Urbach-Wiethe-Syndrom.
- Urbach–Wiethe_disease sameAs Sindrome_di_Urbach-Wiethe.
- Urbach–Wiethe_disease sameAs Doença_de_Urbach-Wiethe.
- Urbach–Wiethe_disease sameAs Q2500124.
- Urbach–Wiethe_disease sameAs Q2500124.
- Urbach–Wiethe_disease wasDerivedFrom Urbach–Wiethe_disease?oldid=589720598.