Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY

AUTOR(ES)

Brandes, Gabriela Irene Garcia; Peixoto-Barbosa, Renata; Meski, Ana Paula Gomes; Giuffrida, Fernando M. A.; Reis, André F.

FONTE

Archives of Endocrinology and Metabolism

DATA DE PUBLICAÇÃO

2022

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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