Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)

Suvimol Chirathivat Hill*, Madjimbaye Namde, Andrew Dwyer, Andrew K Poznanski, Scott Canna, Raphaela Goldbach-Mansky

*Corresponding author for this work

Research output: Contribution to journalArticle

82 Citations (Scopus)

Abstract

Background: Neonatal onset multisystem inflammatory disease (NOMID), an autoinflammatory disease, is characterized by fever, chronic urticarial rash, CNS manifestations, and arthropathy. Approximately 50% of patients with NOMID have de novo missense mutations in CIAS1, which is associated with modulation of the IL-1b and apoptotic pathways. Approximately 60% of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood. Objective: To more fully describe the findings of NOMID arthropathy on MRI and radiography and to provide a better understanding of the origin of the bony lesions. Materials and methods: We imaged 20 patients with NOMID to further investigate NOMID-associated bony lesions. Results: Bony abnormalities were seen in the knees of 11/20 patients. The knee findings included enlarged, deformed femora and patellae in all and tibiae in the majority, without evidence of synovitis. Some patients had other joint involvement. Most had short stature and valgus or varus knee deformities. No association was noted between bony abnormalities and CIAS1 mutations. The abnormalities appeared to be the result of a mass-producing process. The resulting heterogeneously calcified masses appeared to originate in the physis and deformed the adjacent metaphysis and epiphysis. Conclusion: These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis.

Original languageEnglish (US)
Pages (from-to)145-152
Number of pages8
JournalPediatric Radiology
Volume37
Issue number2
DOIs
StatePublished - Feb 1 2007

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Cryopyrin-Associated Periodic Syndromes
Joint Diseases
Knee
Mutation
Epiphyses
Synovitis
Patella
Bone Development
Missense Mutation
Chondrocytes
Exanthema
Tibia
Radiography
Femur
Fever
Joints
Apoptosis
Inflammation

Keywords

  • Arthropathy
  • CIAS1
  • Knee
  • NOMID/CINCA
  • Neonate

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

Cite this

Hill, Suvimol Chirathivat ; Namde, Madjimbaye ; Dwyer, Andrew ; Poznanski, Andrew K ; Canna, Scott ; Goldbach-Mansky, Raphaela. / Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). In: Pediatric Radiology. 2007 ; Vol. 37, No. 2. pp. 145-152.
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abstract = "Background: Neonatal onset multisystem inflammatory disease (NOMID), an autoinflammatory disease, is characterized by fever, chronic urticarial rash, CNS manifestations, and arthropathy. Approximately 50{\%} of patients with NOMID have de novo missense mutations in CIAS1, which is associated with modulation of the IL-1b and apoptotic pathways. Approximately 60{\%} of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood. Objective: To more fully describe the findings of NOMID arthropathy on MRI and radiography and to provide a better understanding of the origin of the bony lesions. Materials and methods: We imaged 20 patients with NOMID to further investigate NOMID-associated bony lesions. Results: Bony abnormalities were seen in the knees of 11/20 patients. The knee findings included enlarged, deformed femora and patellae in all and tibiae in the majority, without evidence of synovitis. Some patients had other joint involvement. Most had short stature and valgus or varus knee deformities. No association was noted between bony abnormalities and CIAS1 mutations. The abnormalities appeared to be the result of a mass-producing process. The resulting heterogeneously calcified masses appeared to originate in the physis and deformed the adjacent metaphysis and epiphysis. Conclusion: These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis.",
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Hill, SC, Namde, M, Dwyer, A, Poznanski, AK, Canna, S & Goldbach-Mansky, R 2007, 'Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)', Pediatric Radiology, vol. 37, no. 2, pp. 145-152. https://doi.org/10.1007/s00247-006-0358-0

Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). / Hill, Suvimol Chirathivat; Namde, Madjimbaye; Dwyer, Andrew; Poznanski, Andrew K; Canna, Scott; Goldbach-Mansky, Raphaela.

In: Pediatric Radiology, Vol. 37, No. 2, 01.02.2007, p. 145-152.

Research output: Contribution to journalArticle

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T1 - Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)

AU - Hill, Suvimol Chirathivat

AU - Namde, Madjimbaye

AU - Dwyer, Andrew

AU - Poznanski, Andrew K

AU - Canna, Scott

AU - Goldbach-Mansky, Raphaela

PY - 2007/2/1

Y1 - 2007/2/1

N2 - Background: Neonatal onset multisystem inflammatory disease (NOMID), an autoinflammatory disease, is characterized by fever, chronic urticarial rash, CNS manifestations, and arthropathy. Approximately 50% of patients with NOMID have de novo missense mutations in CIAS1, which is associated with modulation of the IL-1b and apoptotic pathways. Approximately 60% of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood. Objective: To more fully describe the findings of NOMID arthropathy on MRI and radiography and to provide a better understanding of the origin of the bony lesions. Materials and methods: We imaged 20 patients with NOMID to further investigate NOMID-associated bony lesions. Results: Bony abnormalities were seen in the knees of 11/20 patients. The knee findings included enlarged, deformed femora and patellae in all and tibiae in the majority, without evidence of synovitis. Some patients had other joint involvement. Most had short stature and valgus or varus knee deformities. No association was noted between bony abnormalities and CIAS1 mutations. The abnormalities appeared to be the result of a mass-producing process. The resulting heterogeneously calcified masses appeared to originate in the physis and deformed the adjacent metaphysis and epiphysis. Conclusion: These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis.

AB - Background: Neonatal onset multisystem inflammatory disease (NOMID), an autoinflammatory disease, is characterized by fever, chronic urticarial rash, CNS manifestations, and arthropathy. Approximately 50% of patients with NOMID have de novo missense mutations in CIAS1, which is associated with modulation of the IL-1b and apoptotic pathways. Approximately 60% of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood. Objective: To more fully describe the findings of NOMID arthropathy on MRI and radiography and to provide a better understanding of the origin of the bony lesions. Materials and methods: We imaged 20 patients with NOMID to further investigate NOMID-associated bony lesions. Results: Bony abnormalities were seen in the knees of 11/20 patients. The knee findings included enlarged, deformed femora and patellae in all and tibiae in the majority, without evidence of synovitis. Some patients had other joint involvement. Most had short stature and valgus or varus knee deformities. No association was noted between bony abnormalities and CIAS1 mutations. The abnormalities appeared to be the result of a mass-producing process. The resulting heterogeneously calcified masses appeared to originate in the physis and deformed the adjacent metaphysis and epiphysis. Conclusion: These findings suggest that the arthropathy of NOMID is the result of abnormal endochondral bone growth. Further investigation is needed to determine whether this deformity is triggered by inflammation early in development or by CIAS1 mutations causing abnormal chondrocyte apoptosis.

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KW - NOMID/CINCA

KW - Neonate

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