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Published on: October 12, 2017
Cold induced sweating syndrome with urinary system anomaly association
Salim Aljabari1, Emily Howard, Todd Bell
1Department of Pediatrics, Texas Tech University Health Science Center, Amarillo, TX 79106, USA.
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.
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