Exacerbation of Skin Lesions During Fever in a Patient With Chronic Infantile Neurologic Cutaneous Articular Syndrome

Chronic infantile neurologic cutaneous articular (CINCA) syndrome is a serious chronic systemic inflammatory disease that presents at a young age and that is characterized by skin, joint, and central nervous system disease. Skin symptoms are the first to appear, in the form of a longstanding nonpruritic urticarial rash, with exacerbations coinciding with episodes of fever, arthritis, and enlarged lymph nodes. The findings of biopsy of skin lesions are extremely variable but characterized by perivascular neutrophilic infiltrate. With the discovery of mutations in the CIAS1 gene, which encodes a protein known as cryopyrin, this entity has been classified as one of the cryopyrin-associated autoinflammatory diseases, along with familial cold urticaria and Muckle-Wells syndrome. This discovery has also made available new therapeutic options. We present the case of a boy diagnosed with CINCA syndrome who presented with an outbreak of painful skin lesions and fever. These lesions were thought to be an exacerbation of underlying lesions during an episode of fever.

ResumenEl síndrome CINCA (Chronic Infantile Neurologic Cutaneous Articular Syndrome) es una grave enfermedad inflamatoria sistémica crónica, de instauración temprana, que se caracteriza por afectación cutánea, articular y del sistema nervioso central (SNC). La clínica cutánea en forma de exantema urticariforme no pruriginoso es la primera en aparecer, siendo más o menos permanente con exacerbaciones que coinciden con brotes de fiebre, artritis y adenopatías. La biopsia de las lesiones cutáneas es muy variable, aunque destaca un infiltrado neutrofílico perivascular. El descubrimiento de mutaciones en el gen CIAS1, que codifica una proteína llamada criopirina, ha permitido añadir esta entidad al espectro de las enfermedades autoinflamatorias asociadas a criopirinas, junto con la urticaria familiar por frío y el síndrome de Muckle-Wells, implicando además nuevas opciones terapéuticas. Presentamos el caso de un varón diagnosticado de síndrome CINCA que presentó un brote de lesiones cutáneas dolorosas y fiebre, interpretándose éstas como una exacerbación de sus lesiones habituales durante un episodio febril.