Albinism oculocutaneous tyrosinase-negative E70.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 21.06.2022

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Albinism I; OCA1; Oculocutaneous tyrosinase-negative albinism; OMIM 203100; OMIM 609592; Tyrosinase-negative oculocutaneous albinism

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Albinism with autosomal recessive inherited defect of tyrosinase formation with consecutive complete disorder of melanin synthesis (melanosomes mature only incompletely) due to reduced or absent tyrosinase activity; about 80 mutations in the tyrosinase gene (TYR) have been described). OCA 1 is also known as yellow albinism .

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Congenital. Occurs in people of all ethnicities.

Clinical features
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White hair, pink, light skin, no lentigines or melanocytic nevi. Grey to blue, transparent iris, ocular fundus completely depigmented, pronounced nystagmus, photophobia, greatly reduced visual acuity. No associated systemic symptoms.

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Tyrosinase detection in the skin negative; incubation of hair roots in tyrosine does not result in pigmentation; electron microscopy shows mainly stage I melanosomes, few stage II melanosomes.

Differential diagnosis
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Generalized Vitiligo.

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

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S.u. Albinism.

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  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


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Last updated on: 21.06.2022