| Full text | |
| Author(s): |
Gabriela Irene Garcia Brandes
[1]
;
Renata Peixoto-Barbosa
;
Ana Paula Gomes Meski
[3]
;
Fernando M. A. Giuffrida
;
André F. Reis
[5]
Total Authors: 5
|
| Affiliation: | [1] Universidade Federal de São Paulo. Departamento de Dermatologia - Brasil
[3] Universidade de São Paulo. Hospital das Clínicas. Departamento de Dermatologia - Brasil
[5] Universidade Federal de São Paulo. Disciplina de Endocrinologia - Brasil
Total Affiliations: 5
|
| Document type: | Journal article |
| Source: | ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 66, n. 3, p. 420-424, 2022-05-18. |
| Abstract | |
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. (AU) | |
| FAPESP's process: | 15/05123-9 - Cardiovascular risk stratification in diabetic patients with MODY |
| Grantee: | André Fernandes Reis |
| Support Opportunities: | Regular Research Grants |