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[[File:Autosomal recessive - en.svg|thumb|Urbach–Wiethe disease is inherited in an autosomal recessive manner.]]
'''ウルバッハ・ビーテ病'''は非常に稀な[[潜性]][[遺伝疾患]]で、症例はこの疾患が初めて報告されてから現在に至るまでおよそ400件程度である<ref>{{cite news| url = https://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| title = Meet the woman who can't feel fear - The Washington Post| newspaper = [[The Washington Post]]}}</ref><ref name=DiGiandomenico-etal-2006>{{cite journal |author1=DiGiandomenico S. |author2=Masi R. |author3=Cassandrini D. |author4=El-Hachem M. |author5=DeVito R. |author6=Bruno C. |author7=Santorelli F.M. | year = 2006 | title = Lipoid proteinosis: case report and review of the literature | journal = Acta Otorhinolaryngol Ital | volume = 26 | issue = 3 | pages = 162–7 | pmid = 17063986 | pmc = 2639960 }}</ref><ref name="Andrews">{{cite book |author1=James, William D. |author2=Berger, Timothy G. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |year=2006 |isbn=978-0-7216-2921-6 |display-authors=etal}}</ref>。1929年にオーストリアのエーリヒ・ウルバッハとカミーロ・ビーテによって正式に報告されたが<ref>{{WhoNamedIt|synd|924}}</ref><ref>{{cite journal | author = Urbach E, Wiethe C | year = 1929 | title = Lipoidosis cutis et mucosae | journal = Virchows Archiv für pathologische Anatomie und Physiologie und für klinische Medizin | volume = 273 | issue = 2 | pages = 285–319 | doi = 10.1007/bf02158983 | s2cid = 42016927 | doi-access = free }}</ref>、実際の症例が確認されているのは1908年のことである<ref name="Caro-1978">{{cite journal | author = Caro I | year = 1978 | title = Lipoid proteinosis | journal = International Journal of Dermatology | volume = 17 | issue = 5 | pages = 388–93 | doi = 10.1111/ijd.1978.17.5.388 | pmid = 77850 | s2cid = 43544386 }}</ref><ref name="isbn0-7817-3742-7">{{cite book |author1=Lever, Walter F. |author2=Elder, David A. |title=Lever's histopathology of the skin |publisher=[[Lippincott Williams & Wilkins]] |___location=Hagerstwon, MD |year=2005 |pages=440 |isbn=978-0-7817-3742-5 }}</ref><ref>{{cite journal | author =Siebenmann F. | year = 1908 | title = Über Mitbeteilingung der Schleimhaut bei allgemeiner Hyperkeratose der Haut | journal = Arch Laryngol | volume = 20 | pages = 101–109 }}</ref>。 is a very rare recessive genetic disorder, with approximately 400 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, [[lesion]]s and scarring on the skin, 症状は個人差が大きく、声のかすれ、病斑や瘢痕、easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the 、肌の乾燥やしわ、瞼周辺の[[papule丘疹]]s around the eyelids.などが確認されている<ref name=Caro-1978/><ref name=Hamada-2002-C&ED>{{Cite journal | last1 = Hamada | first1 = T. | title = Lipoid proteinosis | journal = Clinical and Experimental Dermatology | volume = 27 | issue = 8 | pages = 624–629 | year = 2002 | doi = 10.1046/j.1365-2230.2002.01143.x| pmid = 12472532 | s2cid = 28344373 }}</ref><ref name=Appenzeller-etal-2006-Neuroimaging16/> All of these are results of a general thickening of the skin and 。これらは肌や粘膜の肥厚によって引き起こされる。他にも[[mucous membrane側頭葉]]s. In some cases there is also a hardening of brain tissue in the の脳組織の硬化によって[[medial temporal lobeてんかん]]s, which can lead to [[epilepsy]] and neuropsychiatric abnormalities.や精神神経系の異常をきたす場合もある<ref name = Staut-1998>{{Cite journal | last1 = Staut | first1 = C. C. V. | last2 = Naidich | first2 = T. P. | title = Urbach-Wiethe Disease(Lipoid Proteinosis) | journal = Pediatric Neurosurgery | volume = 28 | issue = 4 | pages = 212–214 | year = 1998 | pmid = 9732251 | doi = 10.1159/000028653| s2cid = 46862405 }}</ref> The disease is typically not life-threatening and patients do not show a decreased [[life expectancy|life span]].。一般的には、命に関わったり、余命が短くなるようなことはないとされている<ref name=Appenzeller-etal-2006-Neuroimaging16>{{Cite journal | title = Amygdalae Calcifications Associated with Disease Duration in Lipoid Proteinosis | journal = Journal of Neuroimaging | volume = 16 | issue = 2 | pages = 154–156 | year = 2006 | pmid = 16629738 | doi = 10.1111/j.1552-6569.2006.00018.x| last1 = Appenzeller | first1 = S | last2 = Chaloult | first2 = E | last3 = Velho | first3 = P | last4 = De Souza | first4 = E. M. | last5 = Araújo | first5 = V. Z. | last6 = Cendes | first6 = F | last7 = Li | first7 = L. M. | s2cid = 30567332 }}</ref>。
ウルバッハ・ビーテ病は常染色体潜性であるため、疾患の保因者であっても症状が現れないことがある。この病気は[[1番染色体 (ヒト)|1番染色体]]の1q21の[[突然変異]]に起因する機能不全によって引き起こされる。Because Urbach–Wiethe disease is an [[autosomal recessive]] condition individuals can be [[genetic carrier|carriers]] of the disease but show no symptoms. The disease is caused by loss-of-function [[mutation]]s to [[chromosome 1]] at 1q21, the extracellular matrix protein 1 ([[ECM1]]) gene.<ref name = "Hamada-etal-2002">{{cite journal |author1=Hamada T. |author2=McLean WHI |author3=Ramsay M. |author4=Ashton GHS |author5=Nanda A. | display-authors = etal | year = 2002 | title = Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1) | journal = Human Molecular Genetics | volume = 11 | issue = 7| pages = 833–40 | pmid = 11929856 | doi = 10.1093/hmg/11.7.833|pmid=11929856|author2=McLean WHI|author3=Ramsay M.|author4=Ashton GHS|author5=Nanda A.|display-authors=|doi-access = }}</ref> The dermatological symptoms are caused by a buildup of a [[hyaline]] material in the dermis and the thickening of the [[basement membrane]]s in the skin.<ref name=Hamada-2002-C&ED/> 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 [[immunohistochemistry|immunohistochemical]] staining may also be used for diagnosis.<ref name=Caro-1978/><ref name = Chan-etal-2007>{{cite journal |author1=Chan I. |author2=Liu L. |author3=Hamada T. |author4=Sethuraman G. |author5=McGrath J.A. | year = 2007 | title = The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1 | journal = Experimental Dermatology | volume = 16 | issue = 11 | pages = 881–90 | doi = 10.1111/j.1600-0625.2007.00608.x | pmid = 17927570 | doi-access = free }}</ref>
Currently, there is no cure for Urbach–Wiethe disease although there are ways to individually treat many of its symptoms.<ref name=DiGiandomenico-etal-2006/> 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 are 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]].
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