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

Autor:	Brandes GIG; Departamento de Dermatologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil., Peixoto-Barbosa R; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, BA, Brasil., Meski APG; Departamento de Dermatologia, Hospital das Clínicas, Universidade de São Paulo (USP), São Paulo, SP, Brasil., Giuffrida FMA; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil, fernando.giuffrida@me.com.; Departamento de Ciências da Vida, Universidade do Estado da Bahia (UNEB), Salvador, BA, Brasil.; Fernando M. A. Giuffrida is joint senior author., Reis AF; Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.; André F. Reis is joint senior author.
Jazyk:	angličtina
Zdroj:	Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2022 May 13; Vol. 66 (3), pp. 420-424. Date of Electronic Publication: 2022 May 12.
DOI:	10.20945/2359-3997000000477
Abstrakt:	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.
Databáze:	MEDLINE
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