E70.320

HCC Category Mapping

What This Code Means

A genetic condition where the body cannot produce melanin, affecting skin, hair, and eyes, with a specific enzyme deficiency that prevents any pigment formation.

Coding Tips

• •Tyrosinase negative indicates complete absence of the enzyme; document skin and eye findings
• •Code associated complications such as skin cancer risk, vision problems, or photophobia separately

Clinical Significance

Tyrosinase-negative oculocutaneous albinism (Type 1A) is the most severe form of oculocutaneous albinism, caused by complete absence of tyrosinase enzyme activity. Patients have white hair, very pale skin, and blue-gray irises with no melanin production throughout life. They face the highest risk of skin cancer among albinism types and have significant visual impairment from foveal hypoplasia, nystagmus, and severe photophobia.

Documentation Requirements

• ✓Documentation must confirm the complete absence of tyrosinase activity through enzyme assay or genetic testing showing homozygous null mutations in the TYR gene.
• ✓Clinical findings should include complete absence of visible pigmentation in skin, hair, and eyes, ophthalmologic examination with iris transillumination and foveal hypoplasia, and visual acuity assessment.
• ✓Skin cancer surveillance protocol and sun protection measures should be documented.

Commonly Confused Codes