Albinism oculocutaneous tyrosinase-negative E70.3

Albinism with autosomal recessive inherited defect in tyrosinase formation with consecutive complete disruption of melanin synthesis (melanosomes only mature incompletely) due to reduced or absent tyrosinase activity. With complete loss of melanin, the number of melanocytes in the skin and other organs is normal. About 80 mutations in the tyrosinase gene/TYR gene have been described. OCA 1 is also known as yellow albinism .

Generalized Vitiligo.

Mostly early development of actinic keratoses (keratosis actinica), pronounced elastosis actinica. Risk of carcinoma development(basal cell carcinoma; carcinoma, spinocellular); malignant melanomas have also been described.

1. Baxter LL, Pavan WJ (2002) The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Mech Dev 116: 209-212
2. Kamaraj B et al(2014) Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int doi: 10.1155/2014/905472.
3. King RA et al (2003) Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet 113: 502-513
4. Kubasch A et al (2017) Oculocutaneous and ocular albinism. Dermatologist 68: 867-875
5. King RA et al (2003) MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). At J Hum Genet 73: 638-645
6. Nakamura E et al (2002) A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). J Dermatol Sci 28: 102-105
7. Oetting WS et al (2003) Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16: 307-311
8. Okulicz JF et al (2003) Oculocutaneous albinism. J Eur Acad Dermatol Venereol 17: 251-256
9. Rundshagen U et al (2003) Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 Hum mutation 23: 106-110
10. Terenziani M et al (2003) Amelanotic melanoma in a child with oculocutaneous albinism. Med Pediatr Oncol 41: 179-180