Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
Autor(a) principal: | |
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Data de Publicação: | 2022 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Arquivos de Endocrinologia e Metabolismo (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420 |
Resumo: | SUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year-old asymptomatic woman, with atypical diabetes diagnosed at age 17, has a confirmed HNF1A mutation on exon 2 (c.392G>A, p.R131Q), classified as Pathogenic by the ACMG guidelines. She has reasonable metabolic control using oral anti-diabetic medications and has no chronic diabetic complications. Clinical and histologic diagnoses of both NL and GA were made. We discuss these conditions and their association with MODY. |
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Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODYSUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year-old asymptomatic woman, with atypical diabetes diagnosed at age 17, has a confirmed HNF1A mutation on exon 2 (c.392G>A, p.R131Q), classified as Pathogenic by the ACMG guidelines. She has reasonable metabolic control using oral anti-diabetic medications and has no chronic diabetic complications. Clinical and histologic diagnoses of both NL and GA were made. We discuss these conditions and their association with MODY.Sociedade Brasileira de Endocrinologia e Metabologia2022-06-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420Archives of Endocrinology and Metabolism v.66 n.3 2022reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.20945/2359-3997000000477info:eu-repo/semantics/openAccessBrandes,Gabriela Irene GarciaPeixoto-Barbosa,RenataMeski,Ana Paula GomesGiuffrida,Fernando M. A.Reis,André F.eng2022-08-12T00:00:00Zoai:scielo:S2359-39972022000300420Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2022-08-12T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
title |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
spellingShingle |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY Brandes,Gabriela Irene Garcia |
title_short |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
title_full |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
title_fullStr |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
title_full_unstemmed |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
title_sort |
Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
author |
Brandes,Gabriela Irene Garcia |
author_facet |
Brandes,Gabriela Irene Garcia Peixoto-Barbosa,Renata Meski,Ana Paula Gomes Giuffrida,Fernando M. A. Reis,André F. |
author_role |
author |
author2 |
Peixoto-Barbosa,Renata Meski,Ana Paula Gomes Giuffrida,Fernando M. A. Reis,André F. |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Brandes,Gabriela Irene Garcia Peixoto-Barbosa,Renata Meski,Ana Paula Gomes Giuffrida,Fernando M. A. Reis,André F. |
description |
SUMMARY Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic forms of diabetes mellitus with distinct clinical features. Clinical dermatological phenotypes in MODY patients are very rare in literature. This report describes a patient with HNF1A-MODY presenting with necrobiosis lipoidica (NL) and granuloma annulare (GA). A 39-year-old asymptomatic woman, with atypical diabetes diagnosed at age 17, has a confirmed HNF1A mutation on exon 2 (c.392G>A, p.R131Q), classified as Pathogenic by the ACMG guidelines. She has reasonable metabolic control using oral anti-diabetic medications and has no chronic diabetic complications. Clinical and histologic diagnoses of both NL and GA were made. We discuss these conditions and their association with MODY. |
publishDate |
2022 |
dc.date.none.fl_str_mv |
2022-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.20945/2359-3997000000477 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
dc.source.none.fl_str_mv |
Archives of Endocrinology and Metabolism v.66 n.3 2022 reponame:Arquivos de Endocrinologia e Metabolismo (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos de Endocrinologia e Metabolismo (Online) |
collection |
Arquivos de Endocrinologia e Metabolismo (Online) |
repository.name.fl_str_mv |
Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||aem.editorial.office@endocrino.org.br |
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1752122518976593920 |