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.^[45]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.^[46]

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Media Gallery

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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Author

Paul N Skiba University of North Carolina at Chapel Hill School of Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Christopher Sayed, MD Clinical Assistant Professor of Dermatology, Clinician Educator, Director of Medical Student Education, Director of Hidradenitis Suppurativa Clinic, University of North Carolina at Chapel Hill School of Medicine

Christopher Sayed, MD is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, Medical Dermatology Society, North Carolina Dermatology Association, Society for Investigative Dermatology, Society for Pediatric Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie, Inc.

Craig N Burkhart, MD, MSBS Assistant Professor, Department of Dermatology, University of North Carolina at Chapel Hill School of Medicine

Craig N Burkhart, MD, MSBS 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, American Medical Association, Royal Society of Medicine, Society for Investigative Dermatology, Women's Dermatologic Society

Disclosure: Nothing to disclose.

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.