neonatal-onset multisystem inflammatory disease (NOMID); chronic infantile neurologic cutaneous articular syndrome
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Epidemiology
- rare
- onset during neonatal period
Pathology
- systemic amyloidosis (25%)
Genetics
- autosomal dominant
- mutation in CIAS1 gene 66%
Clinical manifestations
- progressive disorder
- urticarial rash develops in the first 6 weeks of life
- other disorders follow
- epiphyseal overgrowth, predominantly of the knees
- joint contractures
- central nervous system abnormalities
- recurrent fever & inflammation
- hepatosplenomegaly
- short stature
- pleuritis is rare
Laboratory
- leukocytosis
- elevated ESR & CRP
- increased serum amyloid A
Complications
- 20% fatality before adulthood
Management
- anakinra 1-2 mg/kg/day
- interleukin 1-beta inhibitor[4]
More general terms
Additional terms
References
- ↑ Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006 Aug 10;355(6):581-92. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16899778
- ↑ UniProt http://www.uniprot.org/uniprot/Q96P20.html
- ↑ OMIM https://mirror.omim.org/entry/607115
- ↑ 4.0 4.1 Medical Knowledge Self Assessment Program (MKSAP) 16. 18. American College of Physicians, Philadelphia 2012, 2018