ABCC6 deficiency causing pseudoxanthoma elasticum

This code identifies pseudoxanthoma elasticum (PXE) specifically caused by a deficiency in the ABCC6 gene. PXE is a rare genetic disorder characterized by the progressive calcification and fragmentation of elastic fibers in connective tissues, primarily affecting the skin, eyes, and cardiovascular system.

Apply this code when documentation explicitly states a diagnosis of pseudoxanthoma elasticum and confirms an underlying ABCC6 gene deficiency. This diagnosis is typically supported by genetic testing results and characteristic clinical findings of PXE.

• Ensure documentation clearly links PXE to an ABCC6 deficiency; do not assume the genetic cause.
• Code any associated manifestations of PXE (e.g., angioid streaks, cardiovascular complications) in addition to this code.
• This code is highly specific; avoid using more general PXE codes when the genetic cause is known.