Albinism oculocutaneous tyrosinase-negative E70.3

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

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

Definition
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/en/dermatology/tyrosinase-132394" title="TyrosinaseAlbinismwith autosomal recessive inherited defect of tyrosinase formation with consecutive complete disruption of melanin synthesis (melanosomes only mature incompletely) due to reduced or missing tyrosinase activity; about 80 mutations in the tyrosinase gene (TYR) have been described). OCA 1 is also known as yellow albinism .

Manifestation
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Congenital. Occurs in people of all ethnicities.

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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.

Diagnosis
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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.

Complication(s)
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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.

Therapy
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S.u. Albinism.

Literature
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  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

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Last updated on: 29.10.2020