eMedicine Specialties > Dermatology > Diseases of Pigmentation

Albinism: Differential Diagnoses & Workup

Author: Raymond E Boissy, PhD, Director of Basic Science Research, Professor, Departments of Dermatology and Cell Biology, University of Cincinnati College of Medicine
Coauthor(s): James J Nordlund, MD, Professor Emeritus, Department of Dermatology, University of Cincinnati College of Medicine
Contributor Information and Disclosures

Updated: Oct 30, 2009

Differential Diagnoses

Homocystinuria
Menkes Kinky Hair Disease
Phenylketonuria

Other Problems to Be Considered

Histidinemia
Menkes steely hair disease
Tietz syndrome
Prader-Willi syndrome
Angelman syndrome

Workup

Laboratory Studies

  • The hair bulb tyrosinase assay has been used to differentiate between oculocutaneous albinism type 1 and the other forms of albinism. In this assay, scalp hair bulbs are gently plucked from the patient and placed in a 0.1% solution of L-dihydroxyphenylalanine (L-DOPA) for up to 4 hours. If the sample is from a patient with oculocutaneous albinism type 1 with mutations affecting the synthesis or catalytic function of tyrosinase, the hair bulbs remain white. In contrast, samples from all other forms of albinism turn dark during the incubation period.
  • For Chediak-Higashi syndrome, a confirmatory workup consists of analysis of a blood smear and the subsequent identification of neutrophils containing giant cytoplasmic granules.
  • For Hermansky-Pudlak syndrome, a confirmatory workup consists of electron microscopy of platelets and the subsequent identification of the absence of dense bodies (delta granules) and bleeding time determination that demonstrates a prolonged duration.
  • For Griscelli syndrome, confirmatory workup consist of immunological function evaluation plus both CT and MRI for neurological abnormalities.
  • These workups for albinism are not routine clinical tests.

Other Tests

  • In Chediak-Higashi syndrome, findings on electroencephalograms and electromyograms may be abnormal.

More on Albinism

Overview: Albinism
Differential Diagnoses & Workup: Albinism
Treatment & Medication: Albinism
Follow-up: Albinism
Multimedia: Albinism
References
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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. 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].

  6. 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].

  7. 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].

  8. 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].

  9. 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].

  10. 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].

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

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

  13. 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].

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

  15. 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.

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Further Reading

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Keywords

albinism, albino, oculocutaneous albinism, oculocutaneous albinism type 1, oculocutaneous albinism type 2, oculocutaneous albinism type 3, oculocutaneous albinism type 4, OCA, OCA type 1, OCA type 2, OCA type 3, OCA type 4, ocular albinism, OA, Chediak-Higashi syndrome, CHS, Hermansky-Pudlak syndrome, HPS, Griscelli Syndrome, GS, congenital hypopigmentary disease

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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: 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.

Medical Editor

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.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University 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.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
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.

CME Editor

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 None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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