Clinical Characteristics

Key clinical features include:

Dermatologic
•    Diffuse reticulate hyperpigmentation with mottled hypo-/hyperpigmented macules
•    Onset in infancy or early childhood

Immune / infectious
•    Recurrent respiratory infections
•    Reduced NK cell number/function and immune dysregulation

Systemic
•    Failure to thrive
•    Gastrointestinal inflammation resembling inflammatory bowel disease
•    Recurrent urethral strictures

Ectodermal / other
•    Hypohidrosis
•    Characteristic facial features (upswept hair, flared eyebrows)

Ocular
•    Corneal inflammation/scarring
•    Photophobia

Sex differences
•    Males: multisystem disease, potentially severe
•    Females: mild pigmentary abnormalities only