A novel dermato-pulmonary syndrome associated with MDA-5 antibodies: report of 2 cases and review of the literature.
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.
From the Division of Pulmonary and Critical Care Medicine (NFC, SD) and Division of Rheumatology (JP, A-MO, LC-R, AR), Johns Hopkins University School of Medicine, Baltimore, Maryland; and Department of Dermatology (DF), Stanford University School of Medicine, Palo Alto, California.
Neal F
NF
Chaisson
Julie
J
Paik
Ana-Maria
AM
Orbai
Livia
L
Casciola-Rosen
David
D
Fiorentino
Sonye
S
Danoff
Antony
A
Rosen
D001323:Autoantibodies / Q000097:blood* / Q000276:immunology; D002423:Cause of Death; D053487:DEAD-box RNA Helicases / Q000032:analysis / Q000276:immunology*; D003882:Dermatomyositis / Q000150:complications* / Q000175:diagnosis / Q000276:immunology* / Q000401:mortality; D018450:Disease Progression; D005260:Female; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D017563:Lung Diseases, Interstitial / Q000150:complications* / Q000000981:diagnostic imaging / Q000276:immunology* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D015996:Survival Rate; D013577:Syndrome; D014057:Tomography, X-Ray Computed / Q000379:methods
D001323:Autoantibodies; C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1