New macular dystrophy associated with loose anagen hair syndrome Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos

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dc.contributor.authorSato M.T.
dc.contributor.authorMarzagao R.
dc.contributor.authorGraff C.
dc.contributor.authorArana J.
dc.contributor.authorMoreira A.T.R.
dc.contributor.authorPagnan N.A.B.
dc.contributor.authorDe Souza Fonseca Ribeiro E.M.
dc.contributor.authorMoreira Jr. C.A.
dc.date.accessioned2024-03-13T01:46:43Z
dc.date.available2024-03-13T01:46:43Z
dc.date.issued2002
dc.description.abstractPurpose: To describe the ophthalmological, dermatological, light microscopy (LM) and scanning electron microscopy (SEM) findings of a new macular dystrophy associated with the loose anagen hair syndrome (LAHS). Methods: A family of seven patients, four of them affected, was examined. The patients underwent a complete ophthalmological examination, color test (Ishihara and Farnsworth D-15), ecography, angiography, laboratory and dermatological tests, sweat test, light microscopy and scanning electron microscopy of the hair. Results: In two affected sisters we found on eye fundoscopy pigmentary dispersions in the posterior pole of the retina, with macular staphyloma. In two brothers, the same pigmentary dispersions in the posterior pole was found, with more pigmentation and a yellow coloring in the macular area and without staphyloma. The light microscopy and scanning electron microscopy evaluation of the affected individuals confirmed loose anagen hair syndrome. In a not affected woman and man all examinations were normal, except the light microscopy and scanning electron microscopy that showed some similarities with the affected individuals. As for the way of inheritance, the pedigree is compatible with autosomal recessive inheritance with partial expression of the heterozygote. Conclusions: There is only one report in the international literature of loose anagen hair syndrome association with ocular coloboma. In this study we describe the findings of a new macular dystrophy associated with the loose anagen hair syndrome, a dystrophy whose fundoscopy findings are different between men and women. Since it is the first report in the literature, the described findings strongly suggest that this association can be part of a new nosological entity.
dc.description.firstpage249
dc.description.issuenumber2
dc.description.lastpage256
dc.description.volume65
dc.identifier.doi10.1590/s0004-27492002000200017
dc.identifier.issn0004-2749
dc.identifier.urihttps://dspace.mackenzie.br/handle/10899/38023
dc.relation.ispartofArquivos Brasileiros de Oftalmologia
dc.rightsAcesso Aberto
dc.subject.otherlanguageAlopecia
dc.subject.otherlanguageElectron scanning microscopy
dc.subject.otherlanguageHair/pathology
dc.subject.otherlanguageHereditary corneal dystrophies
dc.subject.otherlanguageHypotrichosis/congenital
dc.subject.otherlanguageLoose anagen hair syndrome
dc.titleNew macular dystrophy associated with loose anagen hair syndrome Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos
dc.typeArtigo
local.scopus.citations4
local.scopus.eid2-s2.0-12344278259
local.scopus.updated2024-05-01
local.scopus.urlhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=12344278259&origin=inward
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