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

Autor(es)

Gabriela Irene Garcia Brandes ^[1] ; Renata Peixoto-Barbosa ; Ana Paula Gomes Meski ^[3] ; Fernando M. A. Giuffrida ; André F. Reis ^[5]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 66, n. 3, p. 420-424, 2022-05-18.

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. (AU)

• Processo FAPESP: 15/05123-9 - Estratificação de risco de doença cardiovascular em pacientes com Diabetes mellitus monogênico tipo MODY
• Beneficiário: André Fernandes Reis
• Modalidade de apoio: Auxílio à Pesquisa - Regular