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Ochronosis Medication

  • Author: Craig G Burkhart, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Aug 19, 2015
 
 

Medication Summary

At the present state of knowledge, no medical therapy for ochronosis and alkaptonuria is available.

Nitisinone, a potent inhibitor of an enzyme in the tyrosine catabolic pathway, has been studied in this condition. The FDA has approved this drug for the treatment of tyrosinemia type 1. It significantly lowers the urinary excretion of homogentisic acid by inhibiting 4-hydrophenylpyruvate dioxygenase and, theoretically, would reduce homogentisic acid accumulation. In recent studies, biochemical parameters improved and the safety level was high, but clinical parameters were not affected.[27] Use of this drug should be investigated in younger individuals to perhaps help prevent the development of debilitating arthritis.

Additionally, a pilot study has looked at the use of antioxidants to counteract the production of melaninlike pigmentation and oxidative stress related to homogentisic acid and its metabolites.[28]

 
 
Contributor Information and Disclosures
Author

Craig G Burkhart, MD, MPH Clinical Professor, Department of Medicine, Medical College of Ohio; Clinical Assistant Professor, Department of Medicine, Ohio University College of Osteopathic Medicine

Craig G Burkhart, MD, MPH is a member of the following medical societies: Association of Military Dermatologists, American College of Aesthetic and Cosmetic Physicians; American Society of Aesthetic/Cosmetic Physicians, Michigan Dermatological Society, Academy of Medicine of Toledo and Lucas County, Ohio Dermatological Association, American Academy of Dermatology, Ohio State Medical Association, 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 School of Medicine

Craig N Burkhart, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, American Medical Association

Disclosure: Nothing to disclose.

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.

Warren R Heymann, MD Head, Division of Dermatology, Professor, Department of Internal Medicine, Rutgers New Jersey Medical School

Warren R Heymann, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Catharine Lisa Kauffman, MD, FACP Georgetown Dermatology and Georgetown Dermpath

Catharine Lisa Kauffman, MD, FACP is a member of the following medical societies: American Academy of Dermatology, Royal Society of Medicine, Women's Dermatologic Society, American Medical Association, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

References
  1. Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W. Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Br J Ophthalmol. 1999 Jun. 83(6):680-3. [Medline].

  2. Zatkova A. An update on molecular genetics of Alkaptonuria. Journal of Inherited Metabolic Disease. December 2011. 34:1127-1136. [Medline].

  3. Natural history of alkaptonuria revisited: Analyses based on scoring systems. Ranganath LR, Cox TE. Journal of Inherited Metabolic Diseases. December 2011. 34:1141-1151. [Medline].

  4. Zhao BH, Chen BC, Shao de C, Zhang Q. Osteoarthritis? Ochronotic arthritis! A case study and review of the literature. Knee Surg Sports Traumatol Arthrosc. 2009 Jul. 17(7):778-81. [Medline].

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

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

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

  8. Vilboux T, Kayser M, Introne W, et al. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat. 2009 Dec. 30(12):1611-9. [Medline]. [Full Text].

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

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

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

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

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

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

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

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

  17. 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. 2004 May-Jun. 23(3):189-92. [Medline].

  18. Bhangle S, Panush RS, Berman E, Schumacher HR. Clinical images: Synovial fluid clues to ochronosis. Arthitis & Rheumatism. Feb 2012. 64:473-473. [Medline].

  19. 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. 2008 Jan. 47(1):19-23. [Medline].

  20. Mishra SN, Dhurdat RS, Deshpande DJ, Nayak CS. Diagnostic utility of dermatoscopy in hydroquinone induced ochronosis. International Journal of Dermatology. April, 2013. 52:413-417. [Medline].

  21. 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. 2006 Apr. 33(4):287-90. [Medline].

  22. Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C. Endogenous ochronosis. Clin Exp Dermatol. 2009 Dec. 34(8):e865-8. [Medline].

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

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

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

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

  27. Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, et al. A 3-year randomized therapeutic trial of nitisinone in alkaptonuria. Molecular Genetics and Metabolism. 2011. 103:307-314. [Medline].

  28. Braconi D, Laschi M, Amato L, Bernardini G, Millucci L, Marcolongo R, et al. Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis. Rheumatology. 2010. 49:1975-1983. [Medline].

  29. Faria B, Vidinha J. Impact of chronic kidney disease on the natural history of alkaptonuria. Nephrology Dialysis Transplantation Plus. August 2012. 5:352-355.

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Ochronosis revealing a perioral bluish black macular eruption after hydroquinone use.
Periorbital discoloration due to excessive use of topical bleaching preparations containing hydroquinone.
Upon microscopic examination, amber-colored, oval structures are detected in the mid-to-upper dermal tissues (hematoxylin and eosin, original magnification X40).
Upon higher magnification (of Image 3), ochronosis reveals homogenization and swelling of collagen bundles (hematoxylin and eosin, original magnification X100).
 
 
 
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