What gastrointestinal (GI) disease is associated with blue lunulae?
- The lunula is the moon-shaped white area present at the proximal nail plate.
- Blue lunulae are seen in Wilson disease (hepatolenticular degeneration), which is caused by an autosomal recessive defect in ATP7B and copper transport.
- Copper accumulates in the liver, brain, cornea, skin, nails, and other tissues. Patients may also demonstrate pretibial hyperpigmentation.
- Kayser-Fleischer rings (brown to green circle of pigment in Descemet membrane of the eye) are pathognomonic of Wilson disease.
