Cold induced sweating syndrome with urinary system anomaly association.
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.
Department of Pediatrics, Texas Tech University Health Science Center, Amarillo, TX 79106, USA.
Salim
S
Aljabari
Emily
E
Howard
Todd
T
Bell
Tetyana L
TL
Vasylyeva