Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.

ABSTRACT:

Background

Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. The p.T10I LMNA variant is associated with a phenotype of generalized lipodystrophy that has also been called atypical progeroid syndrome.

Case presentation

A previously healthy female presented with bilateral proximal lower extremity muscle weakness at age 4. She was diagnosed with JDM based on her clinical presentation, laboratory tests and magnetic resonance imaging (MRI). She had subcutaneous fat loss which started

SUBMITTER: Sahinoz M 

PROVIDER: S-EPMC5870259 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature