Cold-Induced Sweating Syndrome (CISS) is a rare inherited disorder with a range of clinical findings. Its appearance during infancy is referred to as Crisponi Syndrome.
Chromosome: (a) 11q13.1 or (b) 19p13.11
Gene:
(a) CLCF1 (cardiotropin-like cytokine factor 1)
(b) CRLF1 (cytokine receptor-like factor 1)
Inheritance: autosomal recessive
A key finding is profuse sweating:
(1) when ambient temperature is below 18-22°C (64-71°F)
(2) when nervous
(3) when eating sweets
(4) when drinking something cold
Fever to 42°C without infection can occur in infants and can lead to seizures or sudden death.
Dysmorphic facial features:
(1) chubby cheeks with round face
(2) low-set ears
(3) depressed nasal bridge and anteverted nares
(4) long philtrum
(5) high-arched palate
(6) micrognathia
(7) lower facial weakness
Other findings:
(1) flexion deformity of the elbows
(2) camptodactyly with fisted hands, overriding fingers and transverse palmar creases
(3) misshapen feet and overriding toes
(4) excessive startling
(5) opisthotonos-like posturing following unexpected stimuli
(6) poor suck reflex
(7) severely impaired swallowing
(8) scaly, erythematous rash
(9) progressive thoracolumbar kyphoscoliosis
(10) laryngospasm
(11) drooling with aspiration of saliva
(12) minimal sweating in hot environments with tendency to overheat
