Albinism oculocutaneous tyrosinase-negativeE70.3
Synonym(s)
Albinism I; OCA1; Oculocutaneous tyrosinase-negative albinism; OMIM 203100; OMIM 609592; Tyrosinase-negative oculocutaneous albinism
DefinitionThis section has been translated automatically.
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 .
ManifestationThis section has been translated automatically.
Congenital. Occurs in people of all ethnicities.
Clinical featuresThis section has been translated automatically.
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.
DiagnosisThis section has been translated automatically.
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 diagnosisThis section has been translated automatically.
Generalized Vitiligo.
Complication(s)This section has been translated automatically.
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.
TherapyThis section has been translated automatically.
S.u. Albinism.
LiteratureThis section has been translated automatically.
- 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
- Kamaraj B et al(2014) Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int doi: 10.1155/2014/905472.
- King RA et al (2003) Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet 113: 502-513
- Kubasch A et al (2017) Oculocutaneous and ocular albinism. Dermatologist 68: 867-875
- King RA et al (2003) MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). At J Hum Genet 73: 638-645
- Nakamura E et al (2002) A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). J Dermatol Sci 28: 102-105
- Oetting WS et al (2003) Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res 16: 307-311
- Okulicz JF et al (2003) Oculocutaneous albinism. J Eur Acad Dermatol Venereol 17: 251-256
- 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
- Terenziani M et al (2003) Amelanotic melanoma in a child with oculocutaneous albinism. Med Pediatr Oncol 41: 179-180