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Dermatologic Manifestations of Albinism Treatment & Management

  • Author: Raymond E Boissy, PhD; Chief Editor: William D James, MD  more...
 
Updated: Jul 21, 2016
 

Medical Care

No treatment is available for hypopigmentation in the skin, the hair, or the eyes. The use of broad-spectrum sunscreens and clothing is recommended to prevent ultraviolet-induced damage to the skin. Visual impairment can be improved by using corrective lenses.

Most therapy for Chediak-Higashi syndrome and Griscelli syndrome is symptomatic in nature. Appropriate antibiotics should be administered to treat infections. Bone marrow transplantation can correct and improve hematologic and immunologic defects in persons with Chediak-Higashi syndrome and Griscelli syndrome, respectively.

No therapy is effective for the nonpigmentary disorders of Hermansky-Pudlak syndrome. If the bleeding diathesis is extreme, platelet and blood transfusions may be considered. If the granulomatous colitis or the pulmonary fibrosis becomes extreme, high-dose steroids may be considered.

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Long-Term Monitoring

Patients with oculocutaneous albinism should be frequently screened for skin cancer.[19, 20]

Patients with Chediak-Higashi syndrome, Hermansky-Pudlak syndrome, and Griscelli syndrome should be routinely monitored for advancement of the nonpigmentary disorders.

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Contributor Information and Disclosures
Author

Raymond E Boissy, PhD Director of Basic Science Research, Professor, Departments of Dermatology and Cell Biology, University of Cincinnati College of Medicine

Raymond E Boissy, PhD is a member of the following medical societies: Sigma Xi

Disclosure: Received none from University of Cincinnati for none.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jean Paul Ortonne, MD Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France

Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

James J Nordlund, MD Professor Emeritus, Department of Dermatology, University of Cincinnati College of Medicine

James J Nordlund, MD is a member of the following medical societies: American Academy of Dermatology, Sigma Xi, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

References
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  2. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep. 18(9):741-9. [Medline].

  3. Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. 1996 Aug. 2(8):330-5. [Medline].

  4. Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999. 13(2):99-115. [Medline].

  5. Pujani M, Agarwal K, Bansal S, Ahmad I, Puri V, Verma D, et al. Chediak-Higashi syndrome - a report of two cases with unusual hyperpigmentation of the face. Turk Patoloji Derg. 2011. 27(3):246-8. [Medline].

  6. Roy A, Kar R, Basu D, Srivani S, Badhe BA. Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. Indian J Pathol Microbiol. 2011 Jul-Sep. 54(3):547-51. [Medline].

  7. Lin YY, Wei AH, He X, Zhou ZY, Lian S, Zhu W. A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. Eur J Dermatol. 2014 Mar-Apr. 24(2):168-73. [Medline].

  8. Hida T, Okura M, Tanaka T, Yamashita T. A case of oculocutaneous albinism type 4: aberrant expression of SLC45A2 transcript with exon skipping. J Dermatol. 2014 Oct 9. [Medline].

  9. Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int. 2014. 2014:905472. [Medline].

  10. Ray K, Chaki M, Sengupta M. Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Prog Retin Eye Res. 2007 Jul. 26(4):323-58. [Medline].

  11. Rooryck C, Morice-Picard F, Elcioglu NH, Lacombe D, Taieb A, Arveiler B. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res. 2008 Oct. 21(5):583-7. [Medline].

  12. Zuhlke C, Criee C, Gemoll T, Schillinger T, Kaesmann-Kellner B. Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population. Pigment Cell Res. 2007 Jun. 20(3):225-7. [Medline].

  13. Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci. 2008 Jul. 51(1):1-9. [Medline].

  14. Forshew T, Khaliq S, Tee L, et al. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clin Genet. 2005 Aug. 68(2):182-4. [Medline].

  15. Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008 Mar. 49(3):868-72. [Medline].

  16. Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol. 2008 Jan. 15(1):22-9. [Medline].

  17. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006 Feb. 19(1):19-42. [Medline].

  18. Menasche G, Fischer A, de Saint Basile G. Griscelli syndrome types 1 and 2. Am J Hum Genet. 2002 Nov. 71(5):1237-8; author reply 1238. [Medline]. [Full Text].

  19. Minakawa S, Kaneko T, Matsuzaki Y, Akasaka E, Mizukami H, Abe Y, et al. Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowen's disease and actinic keratosis. J Dermatol. 2014 Sep. 41(9):863-4. [Medline].

  20. Chatterjee K, Rasool F, Chaudhuri A, Chatterjee G, Sehgal VN, Singh N. Basal cell carcinoma, oculo-cutaneous albinism and actinic keratosis in a native Indian. Indian J Dermatol. 2013 Sep. 58(5):377-9. [Medline]. [Full Text].

  21. Carden SM, Boissy RE, Schoettker PJ, Good WV. Albinism: modern molecular diagnosis. Br J Ophthalmol. 1998 Feb. 82(2):189-95. [Medline].

  22. King RA, Hearing VJ, Creel DJ. Albinism. Scriver CR, Beaudet AL, Sly WS, Valle DL, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995. Vol 3: 4353-92.

 
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Infant with oculocutaneous albinism type 1 presenting with hypomelanotic skin, white hair, and pink irides and pupils resulting from the dysfunction of tyrosinase in the melanocytes of these tissues and the subsequent lack of melanin synthesis. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
Neonate with oculocutaneous albinism type 3 presenting with minimally pigmented skin and light hair coloration resulting from the dysfunction of tyrosinase-related protein-1 in the melanocytes of these tissues and the subsequent reduction in melanin synthesis. The infant's parents are African American. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
Infant with Chediak-Higashi syndrome presenting with hypomelanotic skin and white hair with a metallic sheen. From Carden et al, Br J Ophthal, 1998, 82:189-195, with permission from BMJ Publishing Group.
 
 
 
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