Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
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 necro...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Brazilian Society of Endocrinology and Metabolism
2022-05-01
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| Series: | Archives of Endocrinology and Metabolism |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420&tlng=en |
| _version_ | 1811321267983220736 |
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| author | Gabriela Irene Garcia Brandes Renata Peixoto-Barbosa Ana Paula Gomes Meski Fernando M. A. Giuffrida André F. Reis |
| author_facet | Gabriela Irene Garcia Brandes Renata Peixoto-Barbosa Ana Paula Gomes Meski Fernando M. A. Giuffrida André F. Reis |
| author_sort | Gabriela Irene Garcia Brandes |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T13:13:50Z |
| format | Article |
| id | doaj.art-3f6ba9e9b7a14dc582d4078786410cbf |
| institution | Directory Open Access Journal |
| issn | 2359-4292 |
| language | English |
| last_indexed | 2024-04-13T13:13:50Z |
| publishDate | 2022-05-01 |
| publisher | Brazilian Society of Endocrinology and Metabolism |
| record_format | Article |
| series | Archives of Endocrinology and Metabolism |
| spelling | doaj.art-3f6ba9e9b7a14dc582d4078786410cbf2022-12-22T02:45:31ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-42922022-05-0166342042410.20945/2359-3997000000477Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODYGabriela Irene Garcia Brandeshttps://orcid.org/0000-0002-7759-7664Renata Peixoto-Barbosahttps://orcid.org/0000-0002-6133-7497Ana Paula Gomes Meskihttps://orcid.org/0000-0002-8232-7378Fernando M. A. Giuffridahttps://orcid.org/0000-0002-5566-8070André F. Reishttps://orcid.org/0000-0002-3274-4587SUMMARY 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420&tlng=en |
| spellingShingle | Gabriela Irene Garcia Brandes Renata Peixoto-Barbosa Ana Paula Gomes Meski Fernando M. A. Giuffrida André F. Reis Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY Archives of Endocrinology and Metabolism |
| title | 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_short | Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY |
| title_sort | granuloma annulare and necrobiosis lipoidica in a patient with hnf1a mody |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420&tlng=en |
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