Skip to main content

Advertisement

SpringerLink
Log in

Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues

  • Review
  • Published:
Archives of Dermatological Research Aims and scope Submit manuscript

Abstract

Oculocutaneous albinism (OCA) is a group of rare, inherited disorders associated with reduced melanin biosynthesis. Clinical manifestations of the eight known subtypes of OCA include hypopigmented skin, eyes, and hair and ocular manifestations, such as decreased visual acuity and nystagmus. OCA affects people globally but is most prevalent in African countries. Individuals with oculocutaneous albinism lack UV protection and are prone to skin damage and skin cancers. For many African albino individuals, there are significant challenges in seeking treatment for skin cancer and preventing sun damage due to psychosocial factors and poor education. This review summarizes the current understanding of the epidemiology, genetics, and clinical manifestations of OCA. We also discuss the medical and psychosocial challenges that affect individuals with OCA and the current landscape of albinism treatment modalities. The extent of the psychosocial challenges needs to be better understood and additional educational interventions may improve quality of life for people with albinism.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Availability of data and materials

Not applicable.

Code availability

Not applicable.

References

  1. Oculocutaneous albinism | Archives of disease in childhood [Internet]. [cited 2021 Jun 9]. Available from: https://adc.bmj.com/content/80/6/565.long

  2. Wiktop J (1985) Albinism. Surv Ophthalmol Elsevier 30:75–101

    Article  Google Scholar 

  3. Grønskov K, Ek J, Brondum-Nielsen K (2007) Oculocutaneous albinism. Orphanet J Rare Dis 2:43

    Article  PubMed  PubMed Central  Google Scholar 

  4. JR Federico, K Krishnamurthy (2021) Albinism. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; [cited 2021 Jun 16]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK519018/

  5. Hong ES, Zeeb H, Repacholi MH (2006) Albinism in Africa as a public health issue. BMC Public Health 6:212–217

    Article  PubMed  PubMed Central  Google Scholar 

  6. Witkop CJ (1979) Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci 16:327–330

    CAS  PubMed  Google Scholar 

  7. Kromberg JGR, Manga P (2018) Epidemiology of Albinism. Albinism in Africa, 1st edn. Academic Press, Massachusetts, pp 57–79

    Chapter  Google Scholar 

  8. Gong Y, Shao C, Zheng H, ChenGuo BY (1994) Study on genetic epidemiology of albinism. Yi Chuan Xue Bao 21:169–172

    CAS  PubMed  Google Scholar 

  9. Hutton SM, Spritz RA (2008) Comprehensive analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians shows that OCA1 is the most prevalent OCA Type. J Invest Dermatol 128:2442–2450

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Albinism | The online metabolic and molecular bases of inherited disease | OMMBID | McGraw-Hill Medical [Internet]. [cited 2021 Jun 12]. Available from: https://ommbid.mhmedical.com/content.aspx?bookId=2709&sectionId=225895065

  11. Suzuki T, Tomita Y (2008) Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci 51:1–9

    Article  CAS  PubMed  Google Scholar 

  12. Kerr R, Stevens G, Manga P, Salm S, John P, Haw T et al (2000) Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Hum Mutat 15:166–172

    Article  CAS  PubMed  Google Scholar 

  13. Oetting WS, King RA (1999) Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat 13:99–115

    Article  CAS  PubMed  Google Scholar 

  14. Woolf CM, Grant RB (1962) Albinism among the Hopi Indians in Arizona. Am J Hum Genet 14:391–400

    CAS  PubMed  PubMed Central  Google Scholar 

  15. Woolf CM (2005) Albinism (OCA2) in Amerindians. Am J Phys Anthropol 128:118–140

    Article  Google Scholar 

  16. Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J et al (2004) Oculocutaneous Albinism Type 4 is one of the most common types of Albinism in Japan. Am J Hum Genet 74:466–471

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (2004) Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat 23:106–110

    Article  CAS  PubMed  Google Scholar 

  18. Marçon CR, Maia M (2019) Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol 94:503–520

    Article  PubMed  PubMed Central  Google Scholar 

  19. de Vijlder HC, de Vijlder JJM, Neumann HAM (2013) Oculocutaneous albinism and skin cancer risk. J Eur Acad Dermatol Venereol John Wiley and Sons, Ltd. 27:433–434

    Article  Google Scholar 

  20. Orlow SJ, Brilliant MH (1999) ThePink-eyed DilutionLocus controls the Biogenesis of Melanosomes and levels of Melanosomal proteins in the eye. Exp Eye Res 68:147–154

    Article  CAS  PubMed  Google Scholar 

  21. Manga P, Boissy RE, Pifko-Hirst S, Zhou B-K, Orlow SJ (2001) Mislocalization of Melanosomal proteins in Melanocytes from Mice with Oculocutaneous Albinism Type 2. Exp Eye Res 72:695–710

    Article  CAS  PubMed  Google Scholar 

  22. Ni-Komatsu L, Orlow SJ (2006) Heterologous expression of tyrosinase recapitulates the misprocessing and mistrafficking in oculocutaneous albinism type 2: effects of altering intracellular pH and pink-eyed dilution gene expression. Exp Eye Res 82:519–528

    Article  PubMed  Google Scholar 

  23. B-H Bin, J Bhin, SH Yang, M Shin, Y-J Nam, D-H Choi, et al. (2015) Membrane-associated transporter protein (MATP) regulates Melanosomal pH and influences Tyrosinase activity. PLoS One [Internet]. [cited 2021 Jun 14];10. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461305/

  24. Fukamachi S, Shimada A, Shima A (2001) Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nat Genet Nature Publishing Group 28:381–385

    Article  CAS  Google Scholar 

  25. Kausar T, Bhatti MA, Ali M, Shaikh RS, Ahmed ZM (2013) OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet 84:91–93

    Article  CAS  PubMed  Google Scholar 

  26. Wei A-H, Zang D-J, Zhang Z, Liu X-Z, He X, Yang L et al (2013) Exome sequencing identifies SLC24A5 as a candidate gene for Nonsyndromic Oculocutaneous Albinism. J Investig Dermatol 133:1834–1840

    Article  CAS  PubMed  Google Scholar 

  27. Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP et al (2013) Mutations in C10orf11, a Melanocyte-differentiation gene, cause Autosomal-recessive Albinism. Am J Hum Genet 92:415–421

    Article  PubMed  PubMed Central  Google Scholar 

  28. Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S et al (2021) Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med Nature Publishing Group 23:479–487

    CAS  Google Scholar 

  29. Kromberg JG, Jenkins T (1982) Prevalence of albinism in the South African negro. S Afr Med J 61:383–386

    CAS  PubMed  Google Scholar 

  30. Rooryck C, Roudaut C, Robine E, Müsebeck J, Arveiler B (2006) Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Res 19:239–242

    Article  CAS  PubMed  Google Scholar 

  31. Zhang K, Li Z, Lei J, Pang T, Xu B, Jiang W et al (2011) Oculocutaneous Albinism Type 3 (OCA3): analysis of two novel mutations in TYRP1 Gene in two Chinese patients. Cell Biochem Biophys 61:523–529

    Article  CAS  PubMed  Google Scholar 

  32. Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E et al (2014) SLC24A5 mutations are associated with non-syndromic Oculocutaneous Albinism. J Investig Dermatol 134:568–571

    Article  PubMed  Google Scholar 

  33. Montoliu L, Grønskov K, Wei A-H, Martínez-García M, Fernández A, Arveiler B et al (2014) Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res 27:11–18

    Article  CAS  PubMed  Google Scholar 

  34. Waardenburg PJ (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows and noseroot with pigmentary anomalies of the iris and head hair and with congenital deafness; Dystopia canthi medialis et punctorum lacrimalium lateroversa, hyperplasia supercilii medialis et radicis nasi, heterochromia iridum totaliis sive partialis, albinismus circumscriptus (leucismus, polioss) et surditas congenita (surdimutitas). Am J Hum Genet 3:195–253

    CAS  PubMed  PubMed Central  Google Scholar 

  35. Mancini AJ, Chan LS, Paller AS (1998) Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol 38:295–300

    Article  CAS  PubMed  Google Scholar 

  36. Kugelman TP, Lerner AB (1961) Albinism, partial Albinism, and Vitiligo. Yale J Biol Med 33:407–414

    CAS  PubMed  PubMed Central  Google Scholar 

  37. Campbell B, Swift S (1962) Partial Albinism: nine cases in six generations. JAMA 181:1103–1106

    Article  CAS  PubMed  Google Scholar 

  38. Okoro AN (1975) Albinism in Nigeria. A clinical and social study. Br J Dermatol 92:485–492

    Article  CAS  PubMed  Google Scholar 

  39. Kiprono SK, Chaula BM, Beltraminelli H (2014) Histological review of skin cancers in African Albinos: a 10-year retrospective review. BMC Cancer 14:157

    Article  PubMed  PubMed Central  Google Scholar 

  40. Luande J, Henschke CI, Mohammed N (1985) The Tanzanian human albino skin. Natural history. Cancer 55:1823–1828

    Article  CAS  PubMed  Google Scholar 

  41. Lookingbill DP, Lookingbill GL, Leppard B (1995) 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 32:653–658

    Article  CAS  PubMed  Google Scholar 

  42. Emadi SE, Juma Suleh A, Babamahmoodi F, Ahangarkani F, Betty Chelimo V, Mutai B et al (2017) Common malignant cutaneous conditions among albinos in Kenya. Med J Islam Repub Iran 31:3

    PubMed  PubMed Central  Google Scholar 

  43. Marti A, Lasseaux E, Ezzedine K, Léauté-Labrèze C, Boralevi F, Paya C et al (2018) Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment Cell Melanoma Res Wiley-Blackwell 31:318–329

    Article  CAS  Google Scholar 

  44. D’Orazio J, Jarrett S, Amaro-Ortiz A, Scott T (2013) UV radiation and the skin. Int J Mol Sci 14:12222–12248

    Article  PubMed  PubMed Central  Google Scholar 

  45. Kromberg JGR, Castle D, Zwane EM, Jenkins T (1989) Albinism and skin cancer in Southern Africa. Clin Genet 36:43–52

    Article  CAS  PubMed  Google Scholar 

  46. Yakubu A, Mabogunje OA (1993) Skin cancer in African Albinos. Acta Oncologica Taylor and Francis 32:621–622

    Article  CAS  Google Scholar 

  47. Mabula JB, Chalya PL, Mchembe MD, Jaka H, Giiti G, Rambau P et al (2012) Skin cancers among Albinos at a University teaching hospital in Northwestern Tanzania: a retrospective review of 64 cases. BMC Dermatol 12:5

    Article  PubMed  PubMed Central  Google Scholar 

  48. Asuquo ME, Otei OO, Omotoso J, Bassey EE (2010) Skin cancer in albinos at the University of Calabar Teaching Hospital, Calabar, Nigeria. Dermat Online J [Internet]. [cited 2021 Aug 9];16. Available from: http://escholarship.org/uc/item/7xj545jx

  49. Asgari MM, Moffet HH, Ray GT, Quesenberry CP (2015) Trends in basal cell Carcinoma incidence and identification of high-risk subgroups, 1998–2012. JAMA Dermatol 151:976–981

    Article  PubMed  Google Scholar 

  50. Rubin AI, Chen EH, Ratner D (2009) Basal-cell Carcinoma [Internet]. http://dx.doi.org.proxy-hs.researchport.umd.edu/https://doi.org/10.1056/NEJMra044151. Massachusetts Medical Society; [cited 2021 Aug 11]. Available from: http://www.nejm.org/doi/https://doi.org/10.1056/NEJMra044151

  51. Karia PS, Han J, Schmults CD (2013) Cutaneous squamous cell carcinoma: estimated incidence of disease, nodal metastasis, and deaths from disease in the United States, 2012. J Am Acad Dermatol 68:957–966

    Article  PubMed  Google Scholar 

  52. Ferlay J, Shin H-R, Bray F, Forman D, Mathers C, Parkin DM (2010) Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int J Cancer 127:2893–2917

    Article  CAS  PubMed  Google Scholar 

  53. Diepgen TL, Mahler V (2002) The epidemiology of skin cancer. Br J Dermatol 146:1–6

    Article  PubMed  Google Scholar 

  54. Thomas RF, Scotto J (1983) Estimating increases in skin cancer morbidity due to increases in ultraviolet radiation exposure. Cancer Invest Taylor and Francis 1:119–126

    Article  Google Scholar 

  55. SR McBride, BJ Leppard (2002) Attitudes and beliefs of an Albino population toward sun avoidance: advice and services provided by an outreach Albino Clinic in Tanzania. Arch Dermatol [Internet]. [cited 2021 Jun 22];138. Available from: http://archderm.jamanetwork.com/article.aspx?https://doi.org/10.1001/archderm.138.5.629

  56. Taylor J, Bradbury-Jones C, Lund P (2019) Witchcraft-related abuse and murder of children with Albinism in Sub-Saharan Africa: a conceptual review. Child Abuse Rev 28:13–26

    Article  Google Scholar 

  57. Lund PM (2005) Oculocutaneous albinism in southern Africa: population structure, health and genetic care. Ann Hum Biol Taylor and Francis Ltd 32:168–173

    Article  CAS  Google Scholar 

  58. Alexander GA, Henschke UK (1981) Advanced skin cancer in Tanzanian Albinos: preliminary observations. J Natl Med Assoc 73:1047–1054

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

Funding

No external funding was used in the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Department of Dermatology, University of Maryland School of Medicine, Baltimore, MD, USA

    Emily Z. Ma, Albert E. Zhou & Karl M. Hoegler

  2. Brooklyn Campus of the VA NY Harbor Healthcare System, FACMS, 800 Poly Place, Brooklyn, NY, USA

    Amor Khachemoune

  3. Department of Dermatology, SUNY Downstate, 450 Clarkson Ave, Brooklyn, NY, USA

    Amor Khachemoune

Authors
  1. Emily Z. Ma
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Albert E. Zhou
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Karl M. Hoegler
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Amor Khachemoune
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

KMH and AK conceived the idea for the manuscript. EZM, AEZ and KMH analyzed the literature and drafted the manuscript. All authors edited the manuscript.

Corresponding author

Correspondence to Amor Khachemoune.

Ethics declarations

Conflict of interest

EZM, AEZ, KMH, and AK declare that they have no conflicts of interest that might be relevant to the contents of this manuscript.

Consent to participate

Not applicable.

Consent for publication

Not applicable.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Ma, E.Z., Zhou, A.E., Hoegler, K.M. et al. Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues. Arch Dermatol Res 315, 107–116 (2023). https://doi.org/10.1007/s00403-022-02335-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00403-022-02335-1

Keywords

Search

Navigation