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Urbach–Wiethe disease (also known as lipoid proteinosis and hyalinosis cutis et mucosae) is a rare recessive genetic disorder, with approximately 400 reported cases since its discovery.〔http://www.washingtonpost.com/news/speaking-of-science/wp/2015/01/20/meet-the-woman-who-cant-feel-fear/?tid=hpModule_9d3add6c-8a79-11e2-98d9-3012c1cd8d1e&hpid=z11〕〔DiGiandomenico S, Masi R, Cassandrini D, El-Hachem M, DeVito R, Bruno C, Santorelli FM. 2006. Lipoid proteinosis: case report and review of the literature. ''Acta Otorhinolaryngol Ital'' 26:162–7〕 It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe,〔Urbach E, Wiethe C. 1929. Lipoidosis cutis et mucosae. ''Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin'' 273: 285–319〕 although cases may be recognized dating back as early as 1908.〔Caro I. 1978. Lipoid proteinosis. ''International Journal of Dermatology''. 17:388–93〕〔Siebenmann F. 1908. Über Mitbeteilingung der Schleimhaut bei allgemeiner Hyperkeratose der Haut. ''Arch Laryngol'' 20:101–109〕 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.〔Hamada T, McLean WHI, Ramsay M, Ashton GHS, Nanda A, et al. 2002. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). ''Human Molecular Genetics'' 11:833–40 PMID 11929856〕 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.〔〔Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. 2007. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. ''Experimental Dermatology'' 16:881–90〕 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. == Characteristics and symptoms == Urbach–Wiethe disease is characterized by both neurological and dermatological symptoms.〔Siebert M, Markowitsch HJ, Bartel P. 2003. Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. ''Brain'' 126:2627–37〕〔Mallory SB, Krafchick BR, Holme SA, Lenane P, Krafchik BR. 2005. What syndrome is this? Urbach-Weithe syndrome (lipoid proteinosis). ''Pediatric Dermatology'' 22:266–7〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Urbach–Wiethe disease」の詳細全文を読む スポンサード リンク
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