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Familial Cold Autoinflammatory Syndrome Type 4
Familial Cold Urticaria Type 4

Presentation

[…] appear and fade repeatedly as the reaction runs its course.1 Patients with urticaria may also have swelling under the skin (angioedema), which results from mast cell and basophil activation deep in the dermis and subcutaneous tissues.1 This symptom may present [thermofisher.com]

Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. [typeset.io]

[…] different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation [pubmed.ncbi.nlm.nih.gov]

Entire Body System

  • Intermittent Fever

    cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. ...read moreread less Abstract: Resume Les maladies auto-inflammatoires monogeniques sont caracterisees par des anomalies genetiques codant des proteines intervenant [typeset.io]

Treatment

Immunotherapy Practice parameters have been developed to help guide the management and treatment of patients with skin allergies. [thermofisher.com]

Treatments may be necessary in case of compression or obstruction, and are not well codified. [typeset.io]

Cryopyrinopathies: Update on pathogenesis and treatment. Nat Clin Pract Rheumatol. 2008;4:481-9. ArósteguiJ, Yagüe J. Enfermedades autoinflamatorias sistémicas hereditarias. [medigraphic.com]

Prognosis

The prognosis of TRAPS is overall good; the main risk is represented by the development of secondary inflammatory amyloidosis. [typeset.io]

Etiology

Au-dela des classiques endocardites marastiques et lupiques, qui representent plus de 75 % des cas, l’endocardite de Loeffler et la maladie de Behcet sont des etiologies a rechercher en premiere intention. [typeset.io]

Epidemiology

Epidemiology of urticaria in Spain. J Invest Allergol Clin Immunol. 2004;14(3):214-220.   Schoepke N, Doumoulakis G, Maurer M. Diagnosis of urticaria. Indian J Derm. 2013;58:211-218.  Duran-Tauleria E, Vignati G, Guedan MJ, et al. [thermofisher.com]

Prevention

The validated treatments to reduce cardiovascular mortality in primary prevention are few. The use of statins in primary prevention is discussed. [typeset.io]

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