Cold induced sweating syndrome with urinary system anomaly association.

Abstract

Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained recurrent episodes of high-grade fever. We are presenting the first case of CISS with urinary system anomaly, which might relate to CRLF1/CLCF1 complex role in the embryonal nephrogenesis.

• Authors: Salim Aljabari, Emily Howard, Todd Bell, Tetyana L Vasylyeva
• Journal: Case reports in pediatrics (Case Rep Pediatr) Vol. 2013 Pg. 173890 ( 2013) ISSN: 2090-6803 [Print] United States
• PMID: 24073352 (Publication Type: Journal Article)