Overview
Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by excessive sweating in cold environments, often accompanied by craniofacial and skeletal features. It is associated with mutations in the CRLF1 gene, which can also manifest as Crisponi syndrome, though the clinical distinction between these conditions remains unclear 1.Diagnosis
Clinical Presentation: Profuse sweating triggered by cold exposure, craniofacial features (e.g., thick eyebrows, short nose, full cheeks), and skeletal abnormalities 1.
Genetic Testing: Identification of mutations in the CRLF1 gene is crucial for diagnosis 1.
Differential Diagnosis: Exclude other cold-induced dermatological conditions like cold urticaria or cryoglobulinemia 2.Management
Environmental Control: Avoid exposure to cold temperatures to minimize symptoms 1.
Symptomatic Relief: Use of antiperspirants or supportive measures for sweating management 1.
Monitoring: Regular follow-up to assess for developmental milestones and complications, especially in pediatric cases 1.Special Populations
Pediatrics: Early recognition of feeding difficulties and characteristic facial features is important 1.
Comorbidities: No specific comorbidities detailed in the provided abstracts; however, autonomic nervous system dysfunction should be monitored 1.Key Recommendations
Genetic testing for CRLF1 mutations is essential for confirming the diagnosis of CISS (Evidence: Strong 1).
Environmental modifications to avoid cold exposure are recommended to manage symptoms effectively (Evidence: Moderate 1).
Regular clinical monitoring is advised, particularly in pediatric patients, to address developmental and autonomic nervous system concerns (Evidence: Expert opinion 1).References
1 Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R et al.. Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. American journal of medical genetics. Part A 2010. link
2 Nordlind K, Bondesson L, Johansson SG, Lagerholm B, Lidén S, Robèrt KH. Purpura provoked by cold exposure in a skier. Dermatologica 1983. link