Granuloma annulare and necrobiosis lipoidica in a patient with HNF1A-MODY
Arch. endocrinol. metab. (Online)
; 66(3): 420-424, June 2022. graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1393852
Biblioteca responsável:
BR1.1
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.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Tipo de estudo:
Guia de prática clínica
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2022
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Federal de São Paulo/BR
/
Universidade de São Paulo/BR