Affected children have difficulty controlling fevers and mild illness may produce extremely high fevers, because of absent temperature regulation by sweating . Affected adults are unable to tolerate a warm environment and require special measures to maintain a normal body temperature . Mucus membrane involvement results in chronic nasal infections with foul-smelling discharge and increased respiratory infections. Hair may be absent or very scanty. The skin is thin with light pigmentation.
Teeth develop abnormally and many teeth are missing.
There is no specific treatment for this disorder. Cosmetic and functional improvements can be made through the use of wigs in the absence of scalp hair and dentures to replace missing and defective teeth. Synthetic tears may be necessary to replace normal tearing and prevent drying of the eyes. The nose may have to be irrigated frequently to remove purulent debris and prevent infection. Temperature control is a constant problem.