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

• Autor(a) principal: Brandes,Gabriela Irene Garcia
• Data de Publicação: 2022
• Outros Autores: Peixoto-Barbosa,Renata, Meski,Ana Paula Gomes, Giuffrida,Fernando M. A., Reis,André F.
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972022000300420

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.