Abstract
Melanoma differentiation-associated protein 5 (MDA-5) is a novel autoantibody frequently characterized by interstitial lung disease and a distinct cutaneous phenotype with palmar papules, ulceration, and rash. Virtually all patients have underlying dermatomyositis, but many lack the characteristic clinical myopathy associated with it. In the setting of amyopathic disease, the absence of clinically available biomarkers or clear pathologic diagnosis can complicate effective prognostic and therapeutic intervention. Until recently the presence of MDA-5 antibody associated dermato-pulmonary syndrome was described only in Asian populations. We present 2 cases of MDA-5-associated dermato-pulmonary syndrome and provide a comprehensive review of available literature.
Publication types
-
Case Reports
-
Comparative Study
-
Research Support, N.I.H., Extramural
-
Review
MeSH terms
-
Autoantibodies / blood*
-
Autoantibodies / immunology
-
Cause of Death
-
DEAD-box RNA Helicases / analysis
-
DEAD-box RNA Helicases / immunology*
-
Dermatomyositis / complications*
-
Dermatomyositis / diagnosis
-
Dermatomyositis / immunology*
-
Dermatomyositis / mortality
-
Disease Progression
-
Female
-
Humans
-
Interferon-Induced Helicase, IFIH1
-
Lung Diseases, Interstitial / complications*
-
Lung Diseases, Interstitial / diagnostic imaging
-
Lung Diseases, Interstitial / immunology*
-
Lung Diseases, Interstitial / mortality
-
Male
-
Middle Aged
-
Prognosis
-
Risk Assessment
-
Severity of Illness Index
-
Survival Rate
-
Syndrome
-
Tomography, X-Ray Computed / methods
Substances
-
Autoantibodies
-
IFIH1 protein, human
-
DEAD-box RNA Helicases
-
Interferon-Induced Helicase, IFIH1