Familial erythromelanosis follicularis and chromosomal instability

Basit Öğe Kaydı
dc.authoridDemirkesen, Cüyan/0000-0002-3045-9942
dc.authorwosidTuzun, Yalcin/B-6333-2015
dc.authorwosidDemirkesen, Cüyan/A-6355-2019
dc.contributor.authorTüzün, Y
dc.contributor.authorWolf, R
dc.contributor.authorTüzün, B
dc.contributor.authorÖzdemir, M
dc.contributor.authorDemirkesen, C
dc.contributor.authorDeviren, A
dc.contributor.authorKotogyan, A
dc.date.accessioned2024-06-12T10:56:23Z
dc.date.available2024-06-12T10:56:23Z
dc.date.issued2001
dc.departmentTrakya Üniversitesien_US
dc.description.abstractWe report a 17-year-old male patient with erythromelanosis follicularis faciei et colli (EFFC), oral leucokeratosis and diabetes mellitus without islet cell antibody. His sister also had minimal findings of EFFC and minimal follicular papules on her shoulders and extensor surfaces of the arms. The father had only fine follicular papules, but no erythromelanosis. Skin and mucous membrane lesions of the proband were investigated histopathologically. Interestingly, in peripheral lymphocyte cultures of the family members, chromosomal breakage was not observed spontaneously, but it was seen with nitrogen mustard, although this disease may be of autosomal recessive inheritance. Thus, we suggest that EFFC may be a poly-aetiological disorder (i.e. familial and environmental) and might be considered one of the chromosomal instability syndromes.en_US
dc.identifier.doi10.1046/j.1468-3083.2001.00148.x
dc.identifier.endpage152en_US
dc.identifier.issn0926-9959
dc.identifier.issue2en_US
dc.identifier.pmid11495524en_US
dc.identifier.scopus2-s2.0-0034857943en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage150en_US
dc.identifier.urihttps://doi.org/10.1046/j.1468-3083.2001.00148.x
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19775
dc.identifier.volume15en_US
dc.identifier.wosWOS:000169971000014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherEuropean Acad Dermatology & Venereologyen_US
dc.relation.ispartofJournal Of The European Academy Of Dermatology And Venereologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChromosomal Analysisen_US
dc.subjectDiabetes Mellitusen_US
dc.subjectOral Leucokeratosisen_US
dc.subjectPachyonychia-Congenitaen_US
dc.subjectDyskeratosis-Congenitaen_US
dc.subjectFacieien_US
dc.subjectCollien_US
dc.titleFamilial erythromelanosis follicularis and chromosomal instabilityen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu