X-linked reticulate pigmentary disorder

A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abno

A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3.

Signs and symptoms

• Failure to thrive in infancy
• Photophobia
• Recurrent pneumonia
• Reticular hyperpigmentation
• Frontal upsweep of hair
• Broad eyebrow
• Bronchiectasis
• Hypohidrosis
• Colitis
• Chronic diarrhea

Also known as: Partington disease; X-linked reticulate pigmentary disorder with systemic manifestations