「利用者:Ctenidium28/sandbox」の版間の差分

2024年4月8日 (月) 09:21時点における版

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{{Infobox medical condition (new)

| name = ウルバッハ・ビーテ病

| synonyms = '''リポイドタンパク賞症'''、'''真皮・粘膜ヒアリン沈着症'''

| image = 3767 dp sl 2.png

| caption = {{仮リンク|HE染色|en|H&E stain}}によるウルバッハ・ビーテ病の皮膚生検

| symptoms = てｓ

| alt =

| specialty = [[内分泌学]]

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| DiseasesDB = 30808

}}

[[File:Autosomal recessive - en.svg|thumb|Urbach–Wiethe disease is inherited in an autosomal recessive manner.ウルバッハ・ビーテ病は潜性遺伝のため、疾患の保因者同士の子供でも4分の1の確率でしか症状が現れない。]]

'''ウルバッハ・ビーテ病''' (ウルバッハ・ビーテびょう、[[英語|英]]: Urbach–Wiethe diseases)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|和書 |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}}</ref>。1908年に初めて症例が確認され<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>、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。<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>

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== 症状と兆候 ==

ウルバッハ・ビーテ病の症状はおおまかに皮膚に関する症状と、[[神経系]]と皮膚に関する症状に分類される<ref name = Siebert-etal-2003>{{cite journal |author1=Siebert M. |author2=Markowitsch H.J. |author3=Bartel P. | year = 2003 | title = Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease | journal = Brain | volume = 126 | issue = 12 | pages = 2627–37 | doi = 10.1093/brain/awg271 | pmid = 12937075 | doi-access = free }}</ref><ref>{{cite journal |author1=Mallory S.B. |author2=Krafchick B.R. |author3=Holme S.A. |author4=Lenane P. |author5=Krafchik B.R. | year = 2005 | title = What syndrome is this? Urbach-Weithe syndrome (lipoid proteinosis) | journal = Pediatric Dermatology | volume = 22 | issue = 3 | pages = 266–7 | doi = 10.1111/j.1525-1470.2005.22321.x | pmid = 15916581 | s2cid = 44925736 }}</ref>。

=== 皮膚 ===

症状は罹患者によって、また同じ家族内であっても大きく異なるが、一般的に症状は乳幼児期に始まり、皮膚や粘膜の肥厚などが挙げられる<ref name="DiGiandomenico-etal-2006" />。初期肥厚の症状程度にもよるが、これは身体の至る箇所で[[合併症]]を引き起こす可能性がある。例えば[[声帯]]の肥厚によるってかすれ声であになることが多くあり、これはこの疾患において最も顕著な臨床症状のひとつである<ref name="Hamada-2002-C&ED" />。皮膚他にも顔面や手足には病斑や瘢痕ができ、通常これは顔面や手足に現れることが多い<ref name="Caro-1978" />。自然治癒力が低下し、加齢とともに瘢痕が増え続ける。皮膚は軽い外傷や怪我で簡単に損傷し、[[水疱|水ぶくれ]]や傷跡を残すことがある<ref name="AppenzellerCaro-etal-2006-Neuroimaging161978" />。また、通常、皮膚は非常に乾燥し、しわしわになる。白色または黄色の[[浸潤]]が口唇、頬粘膜、[[扁桃]]、[[口蓋垂]]、舌小帯などにおいては、白色または黄色の[[浸潤]]が形成される<ref name="Caro-1978" />。その結果、これが悪化すれば{{仮リンク|上気道感染症|en|Upper respiratory tract infection}}上気道感染症を引き起こし、症状を緩和するために気管切開が必要になることも場合がある<ref name="Hamada-2002-C&ED" />。また、舌小帯が肥厚しすぎると、舌の動きが制限され、言語障害を引き起こす可能性がもある<ref name="Thornton-etal-2008">{{cite journal |author1=Thornton H.B. |author2=Nel D. |author3=Thornton D. |author4=van Honk J. |author5=Baker G.A. |author6=Stein D.J. | year = 2008 | title = The neuropsychiatry and neuropsychology of lipoid proteinosis | journal = Journal of Neuropsychiatry and Clinical Neurosciences | volume = 20 | issue = 1 | pages = 86–92 | doi = 10.1176/jnp.2008.20.1.86 | pmid = 18305289 | doi-access = free }}</ref>。眼瞼周囲のには丘疹の播種が確認され、これは非常に一般的な症状であり、しばしば本疾患の診断の一部として用いられる。皮膚は自然治癒力が低下しており、軽い外傷や怪我で簡単に損傷し、[[水疱|水ぶくれ]]や傷跡を残すことがある<ref name="Appenzeller-etal-2006-Neuroimaging16" />。その他の皮膚症状としては、[[脱毛]]、[[耳下腺炎]]やその他の歯の異常、角膜潰瘍、[[黄斑]]の局所変性などが見られるが、あまり一般的ではない<ref name="Bahadir-etal-2006">{{cite journal|author1=Bahadir S.|year=2006|title=Lipoid proteinosis: A case with ophthalmological and psychiatric findings|journal=The Journal of Dermatology|volume=33|issue=3|pages=215–8|doi=10.1111/j.1346-8138.2006.00049.x|pmid=16620230|author2=Cobanoglu U.|author3=Kapicioglu Z.|author4=Kandil S.T.|author5=Cimsit G.|s2cid=34699559}}</ref>。Although [[symptom]]s can vary greatly between affected individuals, even those within the same family, symptoms normally begin in [[infancy]] and are typically a result of thickening skin and mucous membranes. The first symptom is often a weak cry or a hoarse voice due to a thickening of the vocal cords. The [[hoarse]] voice can be one of the most striking clinical manifestations of the disease. Lesions and scars also appear on the [[skin]], usually the [[face]] and the [[Anatomical terms of ___location#Proximal and distal|distal]] parts of the limbs. This is often the result of poor wound healing and the scarring continues to increase as the patient ages, leaving the skin with a waxy appearance. Skin may be easily damaged as a result of only a minor trauma or injury, leaving many blisters and additional scars. The skin is also usually very dry and wrinkly. White or yellow [[Infiltration (medical)|infiltrates]] form on the lips, [[buccal mucosa]], [[tonsils]], [[uvula]], [[epiglottis]] and [[frenulum]] of the tongue. This can lead to [[upper respiratory tract infection]] and sometimes requires [[tracheostomy]] to relieve the symptom. Too much thickening of the frenulum can restrict tongue movement and may result in [[speech impediment]]s. Beading of the papules around the [[eyelid]]s is a very common symptom and is often used as part of a [[diagnosis]] of the [[disease]]. Some other [[dermatological]] symptoms that are sometimes seen but less common include [[hair loss]], [[parotitis]] and other [[Dentistry|dental]] abnormalities, [[corneal]] ulceration, and focal degeneration of the [[macula]].

=== 神経系 ===

Although the dermatological changes are the most obvious symptoms of Urbach–Wiethe disease, many patients also have neurological symptoms. About 50–75ウルバッハ・ビーテ病の明らかな症状は皮膚に関する変化であるが、患者の多くは神経系にも症状が現れていることが多い。患者のうち、50～75% of the diagnosed cases of Urbach–Wiethe disease also show bilateral symmetrical には内側[[calcification側頭葉]]sにおけるbilateral onsymmetrical the medial [[temporal lobe]]s.calcifications？が確認されている<ref>{{cite journal|author1=Hurlemann R.|year=2007|title=Amygdala control of emotion-induced forgetting and remembering: Evidence from Urbach-Wiethe disease|journal=Neuropsychologia|volume=45|issue=5|pages=877–84|doi=10.1016/j.neuropsychologia.2006.08.027|hdl=21.11116/0000-0001-B8EF-3|pmid=17027866|author2=Wagner M.|author3=Hawellek B.|author4=Reich H.|author5=Pieperhoff P.|author6=Amunts K.|s2cid=4101263|hdl-access=free}}</ref>。これらの石灰化はしばしば[[扁桃体]]とその周囲の[[脳回]]に影響を及ぼす<ref name = Staut-1998/>。扁桃体は、生物学的に関連する刺激の処理と情動的長期記憶、特に恐怖に関連するものに関与していると考えられており、PETとMRI検査の両方で、扁桃体の活性化と強く情動的な刺激に対するエピソード記憶との相関が示されている<ref name=Siebert-etal-2003/>。したがって、これらの領域に石灰化および病変を認める本疾患は、これらのシステムに障害を来す可能性がある。

Although the dermatological changes are the most obvious symptoms of Urbach–Wiethe disease, many patients also have neurological symptoms. About 50–75% of the diagnosed cases of Urbach–Wiethe disease also show bilateral symmetrical [[calcification]]s on the medial [[temporal lobe]]s. These calcifications often affect the [[amygdala]] and the periamygdaloid [[gyrus|gyri]].<ref name = Staut-1998/> The amygdala is thought to be involved in processing biologically relevant stimuli and in emotional long-term memory, particularly those associated with [[fear]], and both [[Positron emission tomography|PET]] and [[Magnetic resonance imaging|MRI]] scans have shown a correlation between amygdala activation and episodic memory for strongly emotional stimuli.<ref name=Siebert-etal-2003/> Therefore, Urbach–Wiethe disease patients with calcifications and [[lesions]] in these regions may suffer impairments in these systems. ここからThese calcifications are the result of a buildup of [[calcium]] deposits in the [[blood vessel]]s within this brain region. Over time, these vessels [[Atherosclerosis|harden]] and the tissue they are a part of dies, causing lesions. The amount of calcification is often related to disease duration.<ref name="Appenzeller-etal-2006-Neuroimaging16" /> The true prevalence of these calcifications is difficult to accurately state as not all patients undergo [[neuroimaging|brain imaging]]. Some patients also exhibit [[epilepsy]] and neuropsychiatric abnormalities. Epilepsy symptoms could begin with light anxiety attacks and can be controlled with anti-epileptic medications.<ref name="Appenzeller-etal-2006-Neuroimaging16" /> Other patients present with symptoms similar to schizophrenia while some suffer from mood, [[anxiety]], and psychotic disorders.<ref name = "Thornton-etal-2008" /><ref name = "Cinaz-1993">{{cite journal |author1=Cinaz P. |author2=Guvenir T. |author3=Gonlusen G. | year = 1993 | title = Lipoid proteinosis: Urbach-Wiethe disease | journal = Acta Paediatrica | volume = 82 | issue = 11 | pages = 892–3 | doi = 10.1111/j.1651-2227.1993.tb12590.x | pmid = 8241657 | s2cid = 31104438 }}</ref> [[File:Chromosome 1.svg|frame|Chromosome 1, where the ECM1 mutation occurs at 1[[Centromere#Position|q]]21]]

== 原因 ==