Oculocutaneous albinism type 2

Acta Dermatovenerologica Alpina, Pannonica et Adriatica

Volumn 12, Issue 1, 2003, Pages 32-36

  Centurión, Santiago A ^a   Schwartz, Robert A ^a  

^a RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

Oculocutaneous albinism; Pigmentary disorder

Indexed keywords

MELANIN; MONOPHENOL MONOOXYGENASE; SUNSCREEN;

ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DNA SEQUENCE; ETHNIC DIFFERENCE; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HISTOPATHOLOGY; HUMAN; HYPOPIGMENTATION; MELANOGENESIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OCULOCUTANEOUS ALBINISM; PATHOPHYSIOLOGY; PATIENT EDUCATION; PHENOTYPE; PHOTOALLERGY; POLYMERASE CHAIN REACTION; SKIN CANCER; SKIN PROTECTION;

EID: 0037353771     PISSN: 13184458     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (44)

1. Sethi R, Schwartz PA, Janniger CK. Oculocutaneous albinism. Cutis. 1996;57: 397-401.
2. Oetting WS. Albinism. Curr Opin Pediatr. 1999;11: 565-71.
3. Stampien T, Thomas I, Schwartz RA. Cutaneous pigmentation as a sign of systemic disease. In: Levine N, editor. Pigmentation and pigmentary disorders. Boca Raton. CRC Press, 1993: 365-94.
4. King RA, Townsend D, Oetting WS. Inherited hypopigmentary disorders. In: Levine N, editor. Pigmentation and pigmentary disorders. Boca Raton. CRC Press, 1993: 297-336.
5. Dourmishev A. Disorders of the skin pigmentation. Sofia, Bulgaria. Medicina i Fizkultura Publishing House, 1986; 49-55.
6. Levine N. Pigmentary abnormalities. In: Schachner LA, Hansen RC, editors. Pediatric dermatology. New York. Churchill Livingstone, 1988; 554-8.
7. Spritz, RA. Molecular genetics of oculocutaneous albinism. Semin Dermatol. 1993; 12: 1647-72.
8. Oetting WS, King RA. Molecular basis of oculocutaneous albinism. J Invest Dermatol. 1994; 103: 131S-6S.
9. King RA, Summers CG. Albinism. Dermatol Clin. 1988; 6: 217-27.
10. Orlow, SJ. Congenital disorders of hypopigmentation. Semin Dermatol. 1995; 14: 27-32.
11. Puri N, Gardner JM, Brilliant MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol. 2000; 115: 607-13.
12. Matsunaga J, Dakeishi-Hara M, Tanita M, et al. A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japenese patient with a pigmented phenotype. Dermatology. 1999; 199: 124-9.
13. King RA, Lewis RA, Townsend D, et al. Brown Oculocutaneous albinism: Clinical, ophthalmological, and biochemical characterization. Ophthalmology. 1985; 92: 1046-55.
14. Tomita Y, The molecular genetics of albinism and piebaldism. Arch Dermatol. 1994; 130: 355-8.
15. Oetting WS, King RA. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Hum Mut. 1993; 2: 1-6.
16. Orlow, SJ. Congenital disorders of hypopigmentation. Semin Dermatol. 1995; 14: 27-32.
17. Witkop, CJ Jr. Albinism. In: Harris H, Hirschhorn K, editors. Advances in human genetics. Vol 2. New York. Plenum, 1971: 61-142.
18. Biswas S, Lloyd IC. Oculocutaneous albinism. Arch Dis Child. 1999; 80: 565-9.
19. Kromberg JG, Castle DJ, Zwane EM, et al. Red or rufous albinism in Southern Africa. Ophthal Pediatr. 1990; 11: 229-235.
20. Walsh RJ. A distinctive pigment of the skin in New Guinea indigenes. Ann Hum Genet. 1971; 34: 379-88.
21. Mosher DB, Fitzpatrick TB, Hori Y: Disorders of pigmentation. In: Fitzpatrick TB, Eisen AZ, Wolff K, editors. Dermatology in general internal medicine. New York. McGraw Hill, 1993: 903-21.
22. Bar G. Albinism in Malwai. Malawi Med J. 1993; 9: 10-12.
23. Witkop CJ. Albinism. Clin Dermatol. 1989; 7: 80-91
24. 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: 653-8.
25. Kromberg JG, Castle D, Zwane EM, Jenkins T. Albinism and skin cancer in Southern Africa. Clin Genet. 1989; 36: 43-52.
26. Stoll DB, Ruschak P, Kauh Y, et al. Lentigo maligna in a woman with oculocutaneous albinism. Arch Dermatol. 1981; 117: 360-1.
27. Wood C, Graham D, Willsen J, Strefilng A. Albinism in amelanotic melanoma. Arch Dermatol. 1982; 118: 283-4.
28. Pehamberger H, Honigsmann H, Wolff K. Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism. J Am Acad Dermatol. 1984; 11: 731-5.
29. Levine EA, Ronan SG, Shirali SS, Das Gupta TK. Malignant melanoma in a child with oculocutaneous albinism. J Surg Oncol. 1992; 51: 138-42.
30. Barak Y, Nir E. Chédiak-Higashi Syndrome. Am J Pediatr Hematol Oncol. 1987; 9: 42-55.
31. Dephino RA, Kaplan KL. The Hermansky-Pudlak Syndrome: Report of three cases and review of pathophysiology and management considerations. Medicine. 1985; 64: 192-202.
32. Hermansky PF, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood. 1959; 14: 162.
33. Witkop CJ, Nunez Babcock M, Rao GH, et al. Albinism and Hermansky-Pudlak in Puerto Rico. Bol Assoc Med P R. 1990; 82: 333-9.
34. Schinella RA, Greco MA, Cobert BL, et al. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Int Med. 1980; 92: 20-3.
35. Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyes dilution locus and for human type II oculocutaneous albinism. Nature. 1993; 361: 72-6.
36. Puri N, Gardner JM, Brilliant MH. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes. J Invest Dermatol. 2000; 115: 607-13.
37. Eady RA, Gunner DB, Garner A, Rodeck CH. Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. J Invest Dermatol. 1983; 80: 210-12.
38. Shimizu H, Niizeki H, Suzumori K, et al. Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. J Invest Dermatol. 1994; 103: 104-6.
39. Levy ML, Magee W. Postnatal testing for unusual genodermatoses. Dermatol Clin. 1994; 12: 93-7.
40. Matsunaga J, Dakeishi-Hara M, Miyamura Y, et al. Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. Dermatology. 1998; 196: 189-93.
41. Lever WF, Schaumburg-Lever G. Histopathology of the Skin. 7th ed. Philadelphia. JB Lippincott, 1990: 489.
42. Kugelman TP, Van Scott EJ. Tyrosine activity in melanocytes of human albinos. J Invest Dermatol. 1961; 37: 73-6.
43. Fonda G. Characteristics and low-vision correction in albinos. Arch Ophthalmol. 1962; 68: 754.
44. Wilson R: Support group for persons with albinism. Dermatol Nursing. 1992; 4: 484.