Cinca syndrome Q87.8

Author: Prof. Dr. med. Peter Altmeyer

Our authors

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

IOMID Syndrome; NOMID syndrome

Definition
This section has been translated automatically.

Chronic infantile neurological-cutaneous articular syndrome (= CINCA syndrome). Rare, possibly already manifest at birth, extremely chronic, recurrent multisystemic disease.

Etiopathogenesis
This section has been translated automatically.

Genetically heterogeneous mutations of the CIAS1 gene, which is mapped on gene locus 1q44, are discussed. The mutation leads to disorders of the protein cryopyrin, a regulator of inflammatory reactions (see Inflammasome, see NLRP3).

Clinical features
This section has been translated automatically.

Rapidly changing maculo-papular or urticarial exanthema, arthropathy, neurological disorders due to chronic aseptic menitis, lymphadenopathy and hepatosplenomegaly (see below fever syndromes, hereditary, periodic).

Laboratory
This section has been translated automatically.

Extremely elevated inflammatory parameters (BSG, CRP, leukocytosis), anemia, polyclonal stimulation of IgM and IgG, and increased circulating IgM and IgG immune complexes.

Histology
This section has been translated automatically.

Nonspecific picture with superficial, perivasal and interstitial lymphomonocytic infiltrates, often deposition of IgM andC3 at the basement membrane.

Differential diagnosis
This section has been translated automatically.

Still syndrome; periodic fever syndromes of other genesis.

Therapy
This section has been translated automatically.

Non-steroidal anti-inflammatory drugs and corticoids.

In case of sufficient response adjustment to the recombinant IL-1 receptor antagonist Anakinra (Kineret®) at a dosage of 100mg/day s.c.

Case report(s)
This section has been translated automatically.

History: Already since pre-school age the meanwhile 49 years old patient suffers from recurrent exanthema of the trunk and the lower extremities which occurred in intervals of 1-3 months. Under NSAR passagere improvement. Significant clinical effects could be achieved with medium prednisolone doses.ER is considerably restricted in his ability to read, so that he can hardly pursue his profession as an employee of a computer company.

Uveitis was diagnosed at the age of 30. Furthermore, he has arterial hypertension, which has to be treated with a beta-blocker.

For 10 years the patient has been taking ibuprofen regularly, almost daily.

Reason for the visitation: renewed fever (>39°C), exhaustion and severe feeling of illness, acute painful swelling of both ankle joints, also of the metacarpophalangeal joints. Simultaneous urticarial exanthema with small spots on the trunk and extremities.

Laboratory: BSG: 50/110, CRP 65 mg/l, neutrophil leukocytosis, lymphopenia, erythrocyturia, discrete serum amyloid A elevation. Discrete ANA, ENA, C3,C4, RF. c-ANCA. p-ANCA.

Human genetic diagnosis: Detection of a mutation in exon 3 of the NLP3 (CIAS 1) gene.

Therapy: IL-1 receptor antagonist (anakinra) at a dose of 100mg/day s.c. Including surprisingly fast improvement of symptoms.

Note: Subsequently, analogous symptoms were also found in the patient's family.

Literature
This section has been translated automatically.

  1. Aksentijevich I et al (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 46: 3340-3348
  2. Granel B et al (2003) CIAS1 Mutation in a Patient with Overlap between Muckle-Wells and Chronic Infantile Neurological Cutaneous and Articular Syndromes. Dermatology 206: 257-259
  3. Lee AG et al (1999) Optic disc edema in neonatal onset multisystem inflammatory disease (NOMID). J Neuroophthalmol 19: 180-181
  4. Prieur A et al (1987) A chronic infantile neurological, cutaneous and articular (CINCA) syndrome. Scand J Rheumatol Suppl 66: 57-68

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020