X-linked reticulate pigmentary disorder (XLPDR) is an ultra-rare X-linked genetic condition caused by a pathogenic variant in POLA1, encoding the catalytic subunit of DNA polymerase-α.
The disease affects primarily males, while female carriers typically exhibit only pigmentary changes along Blaschko lines.
Core features include:
• Diffuse reticulate hyperpigmentation beginning in early childhood
• Recurrent pulmonary infections and bronchiectasis
• Hypohidrosis
• Corneal inflammation/scarring and photophobia
• Failure to thrive and variable systemic involvement
Prevalence is extremely low, with only a small number of families or sporadic cases reported worldwide.
POLA1 XLPDR