Dermatologic Manifestations of Albinism 

  • Author: Raymond E Boissy, PhD; Chief Editor: William D James, MD   more...
 
Updated: Jan 13, 2012
 

Background

The classification of congenital hypopigmentary diseases that result from a defect in the production of pigment (melanin) due to dysfunction of pigment cells (melanocytes) in the skin, the eyes, and/or the ears consists of the following: oculocutaneous albinism types 1, 2, 3, and 4; ocular albinism; Chediak-Higashi syndrome; Hermansky-Pudlak syndrome; and Griscelli syndrome.[1, 2, 3, 4]

Chediak-Higashi syndrome and Hermansky-Pudlak syndrome also manifest with extrapigmentary defects consisting of leukocyte, platelet, pneumocyte, and reticular cell dysfunction. Griscelli syndrome can also manifest with immunodeficiency and neurologic defects.

Infant with oculocutaneous albinism type 1 presentInfant 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 presenNeonate 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 wiInfant 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.
Next

Pathophysiology

These diseases present with a generalized complete or partial loss in pigmentation of the skin and the hair. Mutations in genes that regulate the multistep process of melanin synthesis, distribution of pigment by the melanocyte, and/or melanosome biogenesis are the basis for these diseases.

Previous
Next

Epidemiology

Frequency

International

The approximate incidences of these diseases are as follows:

  • Oculocutaneous albinism type 1 - One case per 40,000 population
  • Oculocutaneous albinism type 2 - One case per 36,000 population, except in Africans and African Americans, in whom the incidence is 1 case per 10,000 population
  • Oculocutaneous albinism type 3 - Unknown
  • Oculocutaneous albinism type 4 - Rare, except in Japan, where 24% of individuals with oculocutaneous albinism have this form
  • Ocular albinism - One case per 50,000 population
  • Chediak-Higashi syndrome - Extremely rare
  • Hermansky-Pudlak syndrome - Rare, except in Puerto Rico, where frequency is 1 case per 1800 population
  • Griscelli syndrome - Extremely rare

Mortality/Morbidity

  • Oculocutaneous albinism types 1, 2, 3, and 4 and ocular albinism are not associated with mortality and/or morbidity outside of cutaneous sensitivity to solar irradiation and the associated visual defects described below (see Physical).
  • Children with Chediak-Higashi syndrome manifest easy bruising, mucosal bleeding, epistaxis and petechiae, recurrent infections primarily involving the respiratory system, and neutropenia. Approximately 85% of individuals with Chediak-Higashi syndrome enter an accelerated phase, including fever; anemia; neutropenia; and, occasionally, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and jaundice. Neurologic problems are variable in Chediak-Higashi syndrome and include a peripheral and cranial neuropathy, autonomic dysfunction, weakness and sensory deficits, loss of deep tendon reflexes, clumsiness with a wide-based gait, seizures, and decreased motor nerve conduction velocities. Death usually occurs in the first decade from infection, bleeding, or development of the accelerated phase.
  • Individuals with Hermansky-Pudlak syndrome manifest a bleeding diathesis resulting from a platelet storage pool deficiency. They also develop a ceroid storage disease in which a ceroid-lipofuscin material accumulates in various organ systems, resulting in pulmonary fibrosis, granulomatous colitis, gingivitis, kidney failure, and cardiomyopathy. Pulmonary fibrosis usually proves fatal in the fourth or fifth decade of life.
  • Most individuals with Griscelli syndrome develop chronic infections resulting from severe immunodeficiency that can be fatal within the first decade of life.

Race

All races appear to be equally affected by the associated mutations. However, oculocutaneous albinism type 2 is reportedly more common among Africans and African Americans (1 case per 10,000 population) than in whites (1 case per 36,000 population).

Sex

The incidence of these albino diseases is equal for men and women.

Age

All of these diseases present in neonates. Chediak-Higashi syndrome consists of an accelerated phase that occurs years to decades after birth.

Previous
 
 
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: University of Cincinnati None None

Coauthor(s)

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, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

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 and American Dermatological Association

Disclosure: Nothing to disclose.

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, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

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 and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE  Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

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 and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References
  1. Chiang PW, Spector E, Tsai AC. Oculocutaneous albinism spectrum. Am J Med Genet A. Jul 2009;149A(7):1590-1. [Medline].

  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. Sep 2009;18(9):741-9. [Medline].

  3. Oetting WS, Brilliant MH, King RA. The clinical spectrum of albinism in humans. Mol Med Today. Aug 1996;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. Jul-Sep 2011;54(3):547-51. [Medline].

  7. 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. Jul 2007;26(4):323-58. [Medline].

  8. 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. Oct 2008;21(5):583-7. [Medline].

  9. 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. Jun 2007;20(3):225-7. [Medline].

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

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

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

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

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

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

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

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

Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.