eMedicine Specialties > Dermatology > Metabolic Diseases

Ochronosis: Treatment & Medication

Author: Craig G Burkhart, MD, MPH, Clinical Professor, Department of Medicine, Section of Dermatology, Medical College of Ohio at Toledo; Clinical Assistant Professor, Department of Dermatology, Ohio University School of Medicine
Coauthor(s): Craig N Burkhart, MD, MSBS, Assistant Professor, Department of Dermatology, University of North Carolina at Chapel Hill
Contributor Information and Disclosures

Updated: Dec 30, 2008

Treatment

Medical Care

Although no present medical treatment is available for alkaptonuria, genetic advances offer hope that corrective measures are forthcoming. Some have advocated diets low in tyrosine and phenylalanine, thereby reducing the toxic byproduct HGA. Additionally, a diet high in vitamin C might prevent oxidation of homogentisic acid. The clinical effects of dietary changes has been minimal.

One possible hope is that nitisinone proves effective.13 The US Food and Drug Administration has approved this drug for the treatment of tyrosinemia type 1. It significantly lowers the urinary excretion of HGA by inhibiting 4-hydrophenylpyruvate dioxygenase and, thoracally, would reduce HGA accumulation. Testing presently is assessing safety and long-term results.

Ochronotic arthropathy is treated with physiotherapy, analgesia, rest, and prosthetic joint replacement when necessary.

Surgical Care

With exogenous cutaneous ochronosis induced by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful.14,15 Reports have described effective therapy with the Q-switched alexandrite 755-nm laser.16

Consultations

  • Consultations with a rheumatologist for the arthropathies that develop should be considered.
  • An expert in medical genetics may be of assistance in screening families for this autosomal recessive metabolic disorder.
  • A cardiac assessment and follow-up care are needed upon entering the fourth decade of life.

Activity

Activities are restricted in adult life because of arthritic complaints.

Medication

At the present state of knowledge, no medical therapy for ochronosis and alkaptonuria is available. The US Food and Drug Administration has approved this drug for the treatment of tyrosinemia type 1. It significantly lowers the urinary excretion of HGA by inhibiting 4-hydrophenylpyruvate dioxygenase and, thoracally, would reduce HGA accumulation. Testing presently is assessing safety and long-term results.

More on Ochronosis

Overview: Ochronosis
Differential Diagnoses & Workup: Ochronosis
Treatment & Medication: Ochronosis
Follow-up: Ochronosis
Multimedia: Ochronosis
References
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References

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  2. Gurkanlar D, Daneyemez M, Solmaz I, Temiz C. Ochronosis and lumbar disc herniation. Acta Neurochir (Wien). Aug 2006;148(8):891-4; discussion 894. [Medline].

  3. Butany JW, Naseemuddin A, Moshkowitz Y, Nair V. Ochronosis and aortic valve stenosis. J Card Surg. Mar-Apr 2006;21(2):182-4. [Medline].

  4. Yoshikai M, Murayama J, Yamada N. Aortic valve regurgitation in alkaptonuria. J Heart Valve Dis. Sep 2004;13(5):863-5. [Medline].

  5. Bruce S, Tschen JA, Chow D. Exogenous ochronosis resulting from quinine injections. J Am Acad Dermatol. Aug 1986;15(2 Pt 2):357-61. [Medline].

  6. Bongiorno MR, Arico M. Exogenous ochronosis and striae atrophicae following the use of bleaching creams. Int J Dermatol. Feb 2005;44(2):112-5. [Medline].

  7. Findlay GH, Morrison JG, Simson IW. Exogenous ochronosis and pigmented colloid milium from hydroquinone bleaching creams. Br J Dermatol. Dec 1975;93(6):613-22. [Medline].

  8. Hoshaw RA, Zimmerman KG, Menter A. Ochronosislike pigmentation from hydroquinone bleaching creams in American blacks. Arch Dermatol. Jan 1985;121(1):105-8. [Medline].

  9. Zawar VP, Mhaskar ST. Exogenous ochronosis following hydroquinone for melasma. J Cosmet Dermatol. Dec 2004;3(4):234-6. [Medline].

  10. Cortes Hernandez J, Ruiz-Oliva Ruiz F, Alonso Colmenares JI, Alvarez Ruiz S, Caton Santaren B, Alcorta Armentia MP. [Ochronotic arthropathy: the value of bone scintigraphy in alkaptonuria]. Rev Esp Med Nucl. May-Jun 2004;23(3):189-92. [Medline].

  11. Charlin R, Barcaui CB, Kac BK, Soares DB, Rabello-Fonseca R, Azulay-Abulafia L. Hydroquinone-induced exogenous ochronosis: a report of four cases and usefulness of dermoscopy. Int J Dermatol. Jan 2008;47(1):19-23. [Medline].

  12. Gonul M, Cakmak SK, Kilic A, Gul U, Heper AO. Pigmented coalescing papules on the dorsa of the hands: pigmented colloid milium associated with exogenous ochronosis. J Dermatol. Apr 2006;33(4):287-90. [Medline].

  13. Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, et al. Use of nitisinone in patients with alkaptonuria. Metabolism. Jun 2005;54(6):719-28. [Medline].

  14. Diven DG, Smith EB, Pupo RA, Lee M. Hydroquinone-induced localized exogenous ochronosis treated with dermabrasion and CO2 laser. J Dermatol Surg Oncol. Nov 1990;16(11):1018-22. [Medline].

  15. Lang PG Jr. Probable coexisting exogenous ochronosis and mercurial pigmentation managed by dermabrasion. J Am Acad Dermatol. Nov 1988;19(5 Pt 2):942-6. [Medline].

  16. Bellew SG, Alster TS. Treatment of exogenous ochronosis with a Q-switched alexandrite (755 nm) laser. Dermatol Surg. Apr 2004;30(4 Pt 1):555-8. [Medline].

  17. Balaban B, Taskaynatan M, Yasar E, Tan K, Kalyon T. Ochronotic spondyloarthropathy: spinal involvement resembling ankylosing spondylitis. Clin Rheumatol. Jul 2006;25(4):598-601. [Medline].

  18. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, et al. The molecular basis of alkaptonuria. Nat Genet. Sep 1996;14(1):19-24. [Medline].

  19. Garcia SF, Egbert B, Swetter SM. Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures. Cutis. Jun 1999;63(6):337-8. [Medline].

  20. Hardwick N, Van Gelder LW, Van der Merwe CA, Van der Merwe MP. Exogenous ochronosis: an epidemiological study. Br J Dermatol. Feb 1989;120(2):229-38. [Medline].

  21. Huerta Brogeras M, Sanchez-Viera M. Exogenous ochronosis. J Drugs Dermatol. Jan 2006;5(1):80-1. [Medline].

  22. Jordaan HF, Van Niekerk DJ. Transepidermal elimination in exogenous ochronosis. A report of two cases. Am J Dermatopathol. Aug 1991;13(4):418-24. [Medline].

  23. Keller JM, Macaulay W, Nercessian OA, Jaffe IA. New developments in ochronosis: review of the literature. Rheumatol Int. Mar 2005;25(2):81-5. [Medline].

  24. Kocyigit H, Gurgan A, Terzioglu R, Gurgan U. Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rheumatol. 1998;17(5):403-6. [Medline].

  25. Lawrence N, Bligard CA, Reed R, Perret WJ. Exogenous ochronosis in the United States. J Am Acad Dermatol. May 1988;18(5 Pt 2):1207-11. [Medline].

  26. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, et al. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum. Feb 2004;33(4):239-48. [Medline].

  27. Martin RF, Sanchez JL, Gonzalez A, Lugo-Somolinos A, Ruiz H. Exogenous ochronosis. P R Health Sci J. Apr 1992;11(1):23-6. [Medline].

  28. O'Brien WM. Biochemical, pathologic and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy. Am J Med. 1963;34:813-9.

  29. Perrone A, Impara L, Bruni A, Primicerio P, Marini M. Radiographic and MRI findings in ochronosis. Radiol Med. Oct 2005;110(4):349-58. [Medline].

  30. Suzuki Y, Oda K, Yoshikawa Y, Maeda Y, Suzuki T. A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. J Hum Genet. 1999;44(2):79-84. [Medline].

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Further Reading

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Keywords

alkaptonuria, bluish black discoloration of tissue, exogenous ochronosis, exposure to hydroquinone, homogentisic acid oxidase, homogentisic acid, HGA

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Contributor Information and Disclosures

Author

Craig G Burkhart, MD, MPH, Clinical Professor, Department of Medicine, Section of Dermatology, Medical College of Ohio at Toledo; Clinical Assistant Professor, Department of Dermatology, Ohio University School of Medicine
Craig G Burkhart, MD, MPH is a member of the following medical societies: American Academy of Dermatology, Ohio State Medical Association, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Coauthor(s)

Craig N Burkhart, MD, MSBS, Assistant Professor, Department of Dermatology, University of North Carolina at Chapel Hill
Craig N Burkhart, MD, MSBS is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, and American Medical Association
Disclosure: Nothing to disclose.

Medical Editor

C Lisa Kauffman, MD, FACP, Professor, Chief, Division of Dermatology, Departments of Medicine and Pathology, Georgetown University Medical Center
C Lisa Kauffman, MD, FACP is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Royal Society of Medicine, Society for Investigative Dermatology, and Women's Dermatologic Society
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

Warren R Heymann, MD, Head, Division of Dermatology, Professor, Department of Internal Medicine, University of Medicine and Dentistry of New Jersey
Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

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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