Neonatal Onset Multisystem Autoinflammatory Disease - aka Chronic Infantile Neurological Cutaneous Articular Syndrome
Cryopyrin Associated Periodic Syndromes (CAPS)
Autosomal dominant. Most cases are due to spontaneous mutations. Very few familial cases. 
Any, present in all races. 
Estimated frequency 1:1 million, mostly due to spontaneous genetic mutations. 
Timing of symptoms:
Continuous, with increased symptoms and fever during flares.  Chronic inflammation noted between flares.
Ever-present, urticaria-like rash with increased neutrophils at the eccrine coils. Rash increases with flares. Some patients have cold-induced flares in addition to constant symptoms.   A few with apthous ulcers. Negative ice cube test.
Headaches, fever, fatigue, chronic aseptic meningitis, and elevated or high intracranial pressure (ICP). Papilledema is common. Many have mental delay and/or cognitive delay, impairments, or intellectual disability. A few have seizures. Strokes are rare. 
Some may have a pericardial effusion, or pericarditis. 
Some patients have hepatomegaly, splenomegaly, or hepatosplenomegaly. Nausea, vomiting and abdominal pain with flares, or with elevated intracranial pressure (ICP). 
Splenomegaly. Many have generalized lymphadenopathy. 
Joints bones muscles cartilage:
Joint pain, knee valgus or varus, limb length differences are common. Some have frontal bossing of the forehead, saddleback nose, contractures, and/or have clubbing of the fingers.  Short stature, growth delays, failure to thrive, arthritis, and osteopenia are often noted., <50% of patients knees or joints have bony overgrowth (usually on the patella) with chondrocytes that are not well differentiated, plus abnormal enchondral bone formation (no inflammatory cells), along with the premature fusion of physis. .
Vasculitis rarely develops. 
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Autoinflammatory Alliance image collection. Voluntarily supplied by patients. Image use restricted - contact email@example.com
Download or view our CAPS Guidebook in English, or choose "ES" at the top of the page to access the Spanish version.
Our Autoinflammatory Alliance website NOMID/CINCA page.
CAPS information in Spanish at autoinflamatorias.com
Find periodic fever syndrome panels, which test for CAPS and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).