https://m2.mtmt.hu/ hun 2026-04-21 11:54 JournalArticle 1661664 VALIDATED true 0 2014-08-14T20:07:04.000+0000 false 1661664 2025-12-21T03:48:17.323+0000 2025-05-09T12:13:22.666+0000 2011-07-28T08:35:17.000+0000 true 10010173 Nyakas Csaba /api/author/10010173 Author Nyakas Csaba (Molekuláris neurobiológia) true 10010173 2025-05-09T12:13:22.041+0000 2025-05-09T12:13:22.041+0000 2025-05-09T12:13:22.821+0000 true 10067876 Ladányi Gusztáv /api/admin/10067876 Admin Ladányi Gusztáv (MTMT API user, admin) true Admin 10067876 /api/admin/10067876 Ladányi Gusztáv (MTMT API user, admin) Ladányi Gusztáv true true 2025-05-09T12:13:22.340+0000 true false true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType Folyóiratcikk 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType Szakcikk (Folyóiratcikk) 101 true 10000059 true 1 /api/category/1 Category Tudományos true 1 Harkany, T true true /api/journal/812 REVIEWED BRITISH JOURNAL OF DERMATOLOGY 0007-0963 1365-2133 true false 812 false 812 true 0007-0963 1365-2133 Journal FOREIGN 146 4 674 679 674 6 2002 Multiple transthyretin (TTR) mutations have recently been identified and implicated in the development of familial systemic amyloidoses, but early diagnosis of these disorders is still largely unresolved. We investigated the presence and tissue distribution of TTR-derived amyloid in skin biopsies of a 59-year-old woman carrying the 'Hungarian-type' mutation of TTR (Asp18Gly). Clinical symptoms involved severe central nervous system dysfunction without signs of polyneuropathy, also referred to as the 'central form' of TTR-related systemic amyloidosis. Skin biopsy was also evaluated as a tool in order to diagnose this type of TTR amyloidosis. Biopsy samples were collected from the infra-axillary region. Light microscopy using Congo red and polarized light was used to diagnose amyloid deposits. Subsequently, electron microscopic analysis was performed to correlate the amyloid deposits with vicinal dermal structures. The amyloid class was determined by means of immunocytochemistry. TTR amyloid was primarily localized to lymphatic microvessels in the present case, whereas arterioles were devoid of TTR amyloid deposits. In addition, the well-known association of TTR amyloid with neural structures along the erector pilorum and around the sebaceous and serosal (sweat) glands was also evident. Electron microscopic analysis of amyloid deposits revealed characteristic amyloid fibrils that were irregular in shape, and exhibited a heterogeneous density and a random deposition pattern. Immunocytochemistry confirmed the cutaneous accumulation of TTR amyloid. In conclusion, amyloid deposits were abundantly present in the skin of a patient with 'Hungarian-type' TTR amyloidosis; skin biopsy seems to be appropriate for the diagnosis of this disorder. We showed that besides the erector pilorum, sweat glands and nerve terminals, lymphatic microvessels are also severely infiltrated by TTR amyloid. Whether these pathological alterations can exclusively be found in 'Hungarian-type' TTR amyloidosis should still be investigated. If such changes are not specific for the Asp18Gly mutation, they may be considered as diagnostic markers for 'central' TTR amyloid disorders. 2011 true true true false false NONE 2025-12-21 false 9 0 9 8 4 7 8 8 7 9 9 8 8 8 1 0 9 8 9 8 0 2 2 Folyóiratcikk Journal Article 24 9 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2003 0 1 0 1 0 2004 0 0 0 0 0 2005 0 1 1 1 1 2006 0 0 0 0 0 2007 0 0 0 0 0 2008 0 0 0 0 0 2009 0 0 0 0 0 2010 0 2 2 2 2 2011 0 0 0 0 0 2012 0 1 1 1 1 2013 0 0 0 0 0 2014 0 0 0 0 0 2015 0 0 0 0 0 2016 0 1 1 1 1 2017 0 0 0 0 0 2018 0 0 0 0 0 2019 0 0 0 0 0 2020 0 1 1 1 1 2021 0 2 2 2 2 D1 false false false false 2014-01-15T13:21:12.000+0000 2013-01-25T11:59:51.000+0000 1 24 0 7 0 true 10067876 Language 10002 /api/language/10002 Angol Angol English true 2 true PersonAuthorship 1845441 /api/authorship/1845441 Harkany, T 1 0.14285715 true false Harkany T true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268839 true PersonAuthorship 1845442 /api/authorship/1845442 Garzuly, F 2 0.14285715 false false Garzuly F true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268838 true PersonAuthorship 1845443 /api/authorship/1845443 Csanaky, G 3 0.14285715 false false Csanaky G true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268837 true PersonAuthorship 1845444 /api/authorship/1845444 Luiten, P G M 4 0.14285715 false false Luiten P G M true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268836 true PersonAuthorship 1845445 /api/authorship/1845445 Nyakas, C [Nyakas, Csaba (Molekuláris neuro...), szerző] 5 0.14285715 false false Author 10010173 /api/author/10010173 Nyakas Csaba (Molekuláris neurobiológia) Nyakas Csaba true 10010173 true Nyakas C true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268835 true PersonAuthorship 1845446 /api/authorship/1845446 Linke, R P 6 0.14285715 false false Linke R P true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268834 true PersonAuthorship 1845447 /api/authorship/1845447 Virágh, S 7 0.14285715 false true Virágh S true false false AuthorshipType 1 /api/authorshiptype/1 Szerző 0 true 0 true false 13268833 true PublicationIdentifier 405312 /api/publicationidentifier/405312 DOI: 10.1046/j.1365-2133.2002.04594.x PlainSource 6 /api/publicationsource/6 DOI PublicationSourceType 10001 /api/publicationsourcetype/10001 DOI true true true DOI DOI https://doi.org/@@@ true true 6 true false IDENTICAL 10.1046/j.1365-2133.2002.04594.x https://doi.org/10.1046/j.1365-2133.2002.04594.x false 237704 true PublicationIdentifier 405310 /api/publicationidentifier/405310 WoS: 000176020300022 PlainSource 1 /api/publicationsource/1 WoS PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true false IDENTICAL 000176020300022 https://www.webofscience.com/wos/woscc/full-record/000176020300022 false 237705 true PublicationIdentifier 405311 /api/publicationidentifier/405311 Scopus: 0036235893 PlainSource 3 /api/publicationsource/3 Scopus PublicationSourceType 10003 /api/publicationsourcetype/10003 Indexelő adatbázis false true true Scopus Scopus 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true Keyword 65 /api/keyword/65 Humans true 65 true Keyword 217 /api/keyword/217 MUTATION true 217 true Keyword 343 /api/keyword/343 TISSUE DISTRIBUTION true 343 true Keyword 1121 /api/keyword/1121 SKIN true 1121 true Keyword 1512 /api/keyword/1512 IMMUNOCYTOCHEMISTRY true 1512 true Keyword 1699 /api/keyword/1699 ARTICLE true 1699 true Keyword 2325 /api/keyword/2325 MICROSCOPY true 2325 true Keyword 3122 /api/keyword/3122 human true 3122 true Keyword 4374 /api/keyword/4374 light true 4374 true Keyword 4524 /api/keyword/4524 protein localization true 4524 true Keyword 4600 /api/keyword/4600 priority journal true 4600 true Keyword 4610 /api/keyword/4610 clinical feature true 4610 true Keyword 4654 /api/keyword/4654 MICROVASCULATURE true 4654 true Keyword 5297 /api/keyword/5297 electron microscopy true 5297 true Keyword 5432 /api/keyword/5432 disease severity true 5432 true Keyword 5852 /api/keyword/5852 disease marker true 5852 true Keyword 5864 /api/keyword/5864 case report true 5864 true Keyword 6707 /api/keyword/6707 central nervous system disease true 6707 true Keyword 6921 /api/keyword/6921 nerve ending true 6921 true Keyword 14679 /api/keyword/14679 human tissue true 14679 true Keyword 17325 /api/keyword/17325 amino acid true 17325 true Keyword 19946 /api/keyword/19946 polyneuropathy true 19946 true Keyword 19957 /api/keyword/19957 amyloidosis true 19957 true Keyword 20089 /api/keyword/20089 skin biopsy true 20089 true Keyword 1002329 /api/keyword/1002329 amyloid true 1002329 true Keyword 1017328 /api/keyword/1017328 Arteriole true 1017328 true Keyword 1020052 /api/keyword/1020052 Skin diseases true 1020052 true Keyword 1032292 /api/keyword/1032292 Axilla true 1032292 true Keyword 1047792 /api/keyword/1047792 dermis true 1047792 true Keyword 1065691 /api/keyword/1065691 sebaceous gland true 1065691 true Keyword 1065692 /api/keyword/1065692 lymph vessel true 1065692 true Keyword 1065693 /api/keyword/1065693 cutaneous lymphatic amyloidosis true 1065693 true Keyword 1065694 /api/keyword/1065694 congo red true 1065694 true Keyword 1065695 /api/keyword/1065695 Sweat gland true 1065695 true Keyword 1065696 /api/keyword/1065696 Lymphatic vessel true 1065696 true Keyword 1065697 /api/keyword/1065697 Familial transthyretin amyloidosis true 1065697 true Keyword 1065702 /api/keyword/1065702 prealbumin true 1065702 true SjrRating 6076690 /api/sjrrating/6076690 sjr:D1 (2002) Scopus - Dermatology BRITISH JOURNAL OF DERMATOLOGY 0007-0963 1365-2133 4 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr sjr true true ClassificationExternal 2708 /api/classificationexternal/2708 Scopus - Dermatology true 2708 true D1 DIRECT true 6076690 true Reference 1285013 /api/reference/1285013 1. 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(2002) BRITISH JOURNAL OF DERMATOLOGY 0007-0963 1365-2133 146 4 674-679<div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Harkany T </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Garzuly F </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Csanaky G </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Luiten P G M </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10010173"><a href="/gui2/?type=authors&mode=browse&sel=10010173" target="_blank">Nyakas C (<span class="authorship-author-name">Nyakas Csaba</span> <span class="authorAux-mtmt"> Molekuláris neurobiológia</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Linke R P </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Virágh S </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;1661664" target="_blank">Cutaneous lymphatic amyloid deposits in 'Hungarian-type' familial transthyretin amyloidosis: a case report</a></div> <div> <span class="journal-title">BRITISH JOURNAL OF DERMATOLOGY</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/0007-0963">0007-0963</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1365-2133">1365-2133</a>)</span>: <span class="journal-volume">146</span> <span class="journal-issue">4</span> <span class="page"> pp 674-679 </span> <span class="year">(2002)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1046/j.1365-2133.2002.04594.x" target="_blank" href="https://doi.org/10.1046/j.1365-2133.2002.04594.x"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000176020300022" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000176020300022"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="0036235893" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-0036235893"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="11966704" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11966704&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Dermatology&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 9</span> | Független: 8 | Függő: 1 | Nem jelölt: 0 | WoS jelölt: 8 | Scopus jelölt:&nbsp;7 | WoS/Scopus jelölt:&nbsp;9 | DOI jelölt:&nbsp;8 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;1661664&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 2 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 1661664</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> <span class="oldId">Régi azonosító: 1661664</span> | Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">Scopus</span> </div> <div class="lastModified">Utolsó módosítás: 2025.05.09. 14:13 Ladányi Gusztáv (MTMT API user, admin) </div> <div class="lockedBy">Központi kezelésű 2025.05.09. 14:13 Ladányi Gusztáv (MTMT API user, admin) </div> </div></div>