Human pathology

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CINCA syndrome

MIM.607115 1q44

cryopyrin-associated periodic syndrome, CAPS, CINCA, chronic neurologic cutaneous and articular syndrome, neonatal-onset multisystem inflammatory disease, NOMID

CINCA syndrome, also known as ?neonatal onset multisystem inflammatory disease,? or NOMID, is a rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.

Synopsis

- neonatal onset of cutaneous symptoms
- chronic meningitis
- joint inflammation
- recurrent fever
- persistent and migratory skin rash
- skin perivascular polymorphonuclear infiltrates (starting at birth)
- progressive neurologic impairment
- chronic meningitis caused by polymorphonuclear cell infiltration
- progressive visual defect
- perceptive deafness frequently occur with increasing age
- recurrent joint flares with or without severe radiologically evident modifications involving the growth cartilage or bone epiphysis
- distinctive facies

  • characteristic frontal bossing
  • protruding eyes
  • shortening of distal limbs
  • growth retardation

- autosomal dominant inheritance pattern

  • intrafamilial occurrence or sporadic cases, is suggestive

- overgrowth of the patella and distal femur

  • prominence of the knees

Etiology

- CINCA syndrome can be caused by mutation in the CIAS1 gene coding for cryopyrin (MIM.606416).

See also

- hereditary autoinflammatory diseases