The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide

Scand J Rheumatol. 2005 May-Jun;34(3):246-9. doi: 10.1080/03009740410010236.

Abstract

Chronic, infantile, neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a rare autosomal dominant inherited disease. It is characterized by a persistent rash with onset during the neonatal period, neurological and ocular manifestations, and articular involvement with abnormal ossification. Mutations within the CIAS1 gene are found in up to 60% of CINCA cases, but the exact underlying pathogenetic mechanisms causing this disorder are still unclear. Although the interleukin-1 (IL-1) receptor antagonist anakinra (rHuIL-1Ra) has recently been reported to be effective, no formal recommended treatment protocols exist thus far. Herein, we describe a 17-year-old girl with CINCA for whom numerous medication trials had been unsuccessful. After the introduction of thalidomide, the symptoms of arthropathy improved dramatically even months after the medication was discontinued by the patient. We propose that thalidomide can be beneficial in select patients with CINCA syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Arthritis / diagnosis
  • Arthritis / drug therapy*
  • Arthritis / physiopathology
  • Calcinosis / diagnostic imaging
  • Carrier Proteins / genetics
  • Chronic Disease
  • Exanthema / drug therapy*
  • Female
  • Humans
  • Immunosuppressive Agents / therapeutic use*
  • Inflammation / diagnosis
  • Inflammation / drug therapy*
  • Inflammation / physiopathology
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Radiography
  • Syndrome
  • Thalidomide / therapeutic use*
  • Tibia / diagnostic imaging

Substances

  • Carrier Proteins
  • Immunosuppressive Agents
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Thalidomide