[Exacerbation of skin lesions during fever in a patient with chronic infantile neurologic cutaneous articular (CINCA) 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.
Servicio de Dermatología, Hospital Ramón y Cajal, Universidad de Alcalá de Henares, Madrid, Spain. asonsoles@hotmail.com
S
S
Aboín-González
I
I
Aldanondo-Fernández de la Mora
C R
CR
García-Acebes
R
R
Carrillo-Gijón
A
A
Harto-Castaño
P
P
Jaén-Olasolo
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001168:Arthritis / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics* / Q000502:physiology; D002908:Chronic Disease; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005334:Fever / Q000209:etiology*; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D008297:Male; D008582:Meningitis, Aseptic / Q000209:etiology; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D012008:Recurrence; D016463:Sweet Syndrome / Q000175:diagnosis; D013577:Syndrome
D000305:Adrenal Cortex Hormones; D000894:Anti-Inflammatory Agents, Non-Steroidal; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human