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

General

oculocutaneous albinism enzyme deficiency

References

OMIM :accession 203100, 606952