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.