PhenomeGene — Human Disease Gene Website SeriesPOLA1 XLPDR

Families

X-linked reticulate pigmentary disorder is a very rare inherited condition that mainly affects boys. It causes changes in skin color and can also affect the immune system and other organs.

Children often develop:
•    A patterned darkening of the skin
•    Repeated lung infections
•    Trouble gaining weight
•    Reducing sweating and problems handling warm weather
•    Eye problems such as sensitivity to light

Girls who carry the condition usually only have mild skin changes.