E70.321

HCC Category Mapping

What This Code Means

A genetic condition where the body has reduced melanin production affecting skin, hair, and eyes, with some enzyme activity present allowing minimal pigment formation.

Coding Tips

• •Tyrosinase positive indicates some enzyme function; patients may have more pigmentation than tyrosinase negative type
• •Document the degree of pigmentation and any associated complications

Clinical Significance

Tyrosinase-positive oculocutaneous albinism (Type 2) involves reduced but not absent melanin production, with some residual tyrosinase enzyme activity. Patients typically develop some pigmentation over time, particularly in hair and skin, though still significantly less than normal. Visual impairment is generally less severe than in the tyrosinase-negative form, but patients still require ophthalmologic management and dermatologic surveillance for skin cancer risk.

Documentation Requirements

• ✓Documentation should include confirmation of residual tyrosinase activity through enzyme assay or genetic testing, description of pigmentation present in skin, hair, and eyes, ophthalmologic findings including visual acuity and presence of nystagmus, and comparison with family members if relevant.
• ✓Note any progressive development of pigmentation over time.
• ✓Dermatologic monitoring plan and sun protection measures should be documented.

Commonly Confused Codes