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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.

SUBMITTER: Aljabari S 

PROVIDER: S-EPMC3773458 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Cold induced sweating syndrome with urinary system anomaly association.

Aljabari Salim S   Howard Emily E   Bell Todd T   Vasylyeva Tetyana L TL  

Case reports in pediatrics 20130829


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, whic  ...[more]

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