Management

There is no curative therapy; management is supportive and multidisciplinary:
•    Infection:prompt treatment of respiratory infections.
•    Hypohidrosis:avoidance of conditions that may cause hyperthermia.
•    Gastrointestinal:management of colitis/inflammatory disease. JAK inhibitors have been used successfully in one reported case, and may be tried off-label.
•    Ophthalmology:monitoring for corneal disease and photophobia. Recurrence of scarring has been observed with corneal transplantation.
•    Nutrition:support for failure to thrive.