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Infantile onset panniculitis with uveitis and systemic granulomatosis

MedGen UID:
1670295
•Concept ID:
C4750785
•
Disease or Syndrome
Synonym: infantile onset panniculitis with uveitis and systemic granulomatosis
SNOMED CT: Infantile onset panniculitis with uveitis and systemic granulomatosis (773328002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0016661
Orphanet: ORPHA251304

Definition

A rare granulomatous autoinflammatory disease with characteristics of infantile-onset, widespread, chronic, recurrent, progressive, lobular panniculitis associated with panuveitis, arthritis and severe systemic granulomatous inflammation. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInfantile onset panniculitis with uveitis and systemic granulomatosis

Recent clinical studies

Therapy

Infantile onset panniculitis with uveitis and systemic granulomatosis: a new clinicopathologic entity.
Wouters CH, Martin TM, Stichweh D, Punaro M, Doyle TM, Lewis JA, Quartier P, Rose CD
J Pediatr 2007 Dec;151(6):707-9. doi: 10.1016/j.jpeds.2007.08.005. PMID: 18035159Free PMC Article

Prognosis

Infantile onset panniculitis with uveitis and systemic granulomatosis: a new clinicopathologic entity.
Wouters CH, Martin TM, Stichweh D, Punaro M, Doyle TM, Lewis JA, Quartier P, Rose CD
J Pediatr 2007 Dec;151(6):707-9. doi: 10.1016/j.jpeds.2007.08.005. PMID: 18035159Free PMC Article

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