Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review.

ABSTRACT:

Introduction

The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS).

Clinical description and etiology

The syndrome is due to autosomal dominant gain of function mutations in NLRP3, which encodes a key component of the innate immunity that regulates the activation and secretion of interleukin (IL)-1β. From the first days of life, patients display an urticarial rash in association with chronic inflammation with a typical facies featured by f

SUBMITTER: Finetti M 

PROVIDER: S-EPMC5142346 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature