oculocutaneous albinism type 1 (tyrosinase negative oculocutaneous albinism)

Pathology

• type 1A, characterized by complete lack of tyrosinase activity due to production of an inactive enzyme
• type 1B characterized by reduced activity of tyrosinase
• temperature-sensitive type

Genetics

• autosomal recessive
• associated with defects in tyrosinase

Clinical manifestations

• absence of pigment in hair, skin & eyes
• type 1A: life-long absence of melanin pigment after birth
• type 1B: white hair at birth that rapidly turns yellow or blond, development of minimal-to-moderate amounts of cutaneous & ocular pigment
• temperature-sensitive type: white axillary & scalp hair & pigmented arm & leg hair

Complications

• increased sensitivity to ultraviolet radiation
• predisposition to skin cancer

More general terms

• oculocutaneous albinism
• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/203100
• OMIM: https://mirror.omim.org/entry/606952