FaCD Online Syndrome Fact Sheet

Last updated: 02 Jul 2008

Name: Oculocutaneous Albinism

Mode of Inheritance: AR

Genes

OCA1, mapped to 11q14-q21
OCA2, mapped to 15q11.2-q12
TYRP1, mapped to 9p23

Tumor features

melanoma, cutaneous
skin cancer, basal cell
skin cancer, squamous cell

Tumor features (possible)

intraoral malignant melanoma
melanoma of the colon
melanoma of the lung
melanoma of the nasopharynx
melanoma, uveal (choroidal, ciliary body, iris)/ocular

Non-tumor features

nystagmus
oculocutaneous albinism
strabismus
visual loss

Comment

Three subtypes exist: tyrosinase-negative (OCA1) and tyrosinase-positive oculocutaneous albinism (OCA2 and 3).[1;2].

Squamous cell skin cancer and to a lesser extend basal cell cancer and malignant melanomas of the skin are the most frequent oncological complication of this type of albinism, occurring especially in patients living in the equatorial regions of the world[3-6]. Melanoma of the eye[7,11,12], oropharynx/nasopharynx[8,13], colon[9] and lung[10] have been reported as well.

Links

International Albinism Center at the University of Minnesota 18 1 08
The Albinism World Alliance (AWA) 24 1 08

References

[1] Witkop CJ, Jr. Albinism. Adv Hum Genet 1971; 2:61-142.
[2] Oetting WS, King RA. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13[2], 99-115. 1999.
[3] Luande J, Henschke CI, Mohammed N. The Tanzanian human albino skin. Natural history. Cancer 1985; 55(8):1823-1828.
[4] Yakubu A, Mabogunje OA. Skin cancer in African albinos. Acta Oncol 1993; 32(6):621-622.
[5] Kromberg JG, Castle D, Zwane EM, Jenkins T. Albinism and skin cancer in Southern Africa. Clin Genet 1989; 36(1):43-52.
[6] Lookingbill DP, Lookingbill GL, Leppard B. Actinic damage and skin cancer in albinos in northern Tanzania: findings in 164 patients enrolled in an outreach skin care program. J Am Acad Dermatol 1995; 32(4):653-658.
[7] Casswell AG, McCartney AC, Hungerford JL. Choroidal malignant melanoma in an albino. Br J Ophthalmol 1989; 73(10):840-845.
[8] Garrington GE, Scofield HH, Cornyn J, Lacy GR, Jr. Intraoral malignant melanoma in a human albino. Oral Surg Oral Med Oral Pathol 1967; 24(2):224-230.
[9] McNicol FJ, Jones LS. Primary malignant melanoma of the colon in an oculocutaneous albino. The surgeon 2005; 3(5):358-9.
[10] Ozdemir N, Cangir AK, Kutlay H, Yavuzer ST. Primary malignant melanoma of the lung in oculocutaneous albino patient. European journal of cardio-thoracic surgery 2001; 20(4):864-7.
[11] Kheterpal S, Shields JA, Shields CL, De Potter P, Ehya H, Eng KY. Choroidal melanoma in an African-American albino. American journal of ophthalmology 1996; 122(6):901-3.
[12] Harasymowycz P, Boucher MC, Corriveau C, Gauthier D, Allaire G. Choroidal amelanotic melanoma in a patient with oculocutaneous albinism. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2005; 40(6):754-8.
[13] Malaguarnera M, Romano M, Pistone G. Metastatic melanoma of the nasal cavity in a patient with oculocutaneous albinism. Clinical oncolog 1998; 10(6):404-6.