Practice Essentials

Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria, a metabolic disorder. Alkaptonuria is a rare genetic disorder in which there is a deficiency of the enzyme homogentisic acid oxidase, resulting in the accumulation of homogentisic acid and a characteristic blue-black discoloration of the skin and cartilage, called ochronosis. Exogenous ochronosis can occasionally occur from exposure to various substances such as phenol, trinitrophenol, resorcinol, mercury, picric acid, benzene, hydroquinone, and antimalarials.

Diagnostics

Dermoscopy has proved useful in exogenous ochronosis. In addition to melasma findings, dermoscopy reveals amorphous, densely pigmented structures obliterating some follicular openings and multiple thin, short, arciform structures.^{[1, 2]}

Synovial fluid examination of affected joints shows characteristic frequent pigmented fibrillar connective tissue, which are golden-brown with microscopy, while being black on gross examination.^[3]

Arthroscopy can be used in diagnosing cases of ochronotic arthropathy.^[4]

Dark urine in diapers is usually the presenting manifestation. For cases not diagnosed in infancy, black cerumen and axillary pigmentation may be noted before age 10 years. In the third decade, gray-black scleral pigmentation is noted in the configuration of small, dark rings. In the fourth decade, ear cartilage alterations include discoloration with a grayish-blue hue.

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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.