Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
| Autor: | Gabriela Irene Garcia Brandes, Renata Peixoto-Barbosa, Ana Paula Gomes Meski, Fernando M. A. Giuffrida, André F. Reis |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Archives of Endocrinology and Metabolism, Vol 66, Iss 3, Pp 420-424 (2022) |
| Druh dokumentu: | article |
| ISSN: | 2359-4292 2359-3997 |
| DOI: | 10.20945/2359-3997000000477 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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