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Updated: Jan 23, 2026

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Published on: April 17, 2013
CINCA Syndrome With New NLRP3 Mutation and Unreported Complication of Thyroid Carcinoma
Farhad Salehzadeh1, Manuchehr Barak1, Saied Hosseiniasl2
1Pediatric Department, Bouali Children's Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Islamic Republic of Iran.
Background:
Chronic infantile neurologic cutaneous and articular syndrome (CINCA) is the most severe phenotype of cryopyrin-associated periodic syndromes (CAPS) and is caused by a missense mutation in NLRP3 gene.
Case Presentation:
We are reporting a 15-year-old male patient with complaints of chronic arthritis and mental involvement. Further investigations showed a heterozygous c.785G>A missense mutation in Exon 3 of NLRP3 gene and coexisting medullary thyroid carcinoma 2 years later.
Conclusions:
This case showed a recently identified gene variant of NLRP3 in a CINCA patient, as a heterozygous c.785G>A missense mutation in Exon 3 of NLRP3 gene and coexisted medullary thyroid carcinoma as an unreported complication of CINCA.
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