TY - JOUR T1 - Clinical Manifestations and Longterm Followup of a Patient with CINCA/NOMID Syndrome JF - The Journal of Rheumatology JO - J Rheumatol SP - 2196 LP - 2197 DO - 10.3899/jrheum.100290 VL - 37 IS - 10 AU - DARIUS EBRAHIMI-FAKHARI AU - LARA WAHLSTER AU - FRIEDERIKE MACKENSEN AU - NORBERT BLANK Y1 - 2010/10/01 UR - http://www.jrheum.org/content/37/10/2196.abstract N2 - To the Editor:Chronic infantile neurological cutaneous and articular (CINCA) syndrome1 is a rare, genetic autoinflammatory disease that belongs to the spectrum of cryopyrin-associated periodic syndromes (CAPS), along with the familial cold autoinflammatory syndrome and the Muckle-Wells syndrome. CAPS are associated with autosomal-dominant mutations in the NLRP3 gene (formerly CIAS1), which encodes the protein cryopyrin2,3. Within the spectrum of CAPS, the CINCA syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is considered to be the most severe phenotype. A triad of urticarial rashes, neurological manifestations, and arthropathy, accompanied by recurrent fever episodes and systemic inflammation, originally defined CINCA syndrome1,4. Systemic AA-amyloidosis is a serious longterm complication that can lead to renal failure and increased mortality4.We describe a 23-year-old Caucasian woman who had developed urticarial skin lesions, lymphadenopathy, and recurrent febrile episodes within the first week after birth. The persistent nonpruritic and migratory urticaria were most pronounced at the patient’s face, trunk, and lower limbs and would intensify during recurrent attacks of fever (Figure 1D). Acute-phase reactants were constantly elevated [C-reactive protein (CRP) up to 170 mg/l, serum amyloid … Address correspondence to Dr. N. Blank, University of Heidelberg, Internal Medicine 5, Division of Rheumatology, Im Neuenheimer Feld 410, D-69120 Heidelberg, Germany. E-mail: norbert.blank{at}med.uni-heidelberg.de ER -