National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ochronosis


Subtypes:
Ochronosis is the bluish-black or grey-blue discoloration of the skin, especially the ear cartilage, the ocular (eye) tissue, and other body locations. It can occurs in individuals with alkaptonuria, an inherited metabolic disorder; or because of exposure to various substances.  Ochronosis typically occurs in adults, but has been reported in children. Ochronosis associated with alkaptonuria is caused by a mutation in the HGD gene, which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage.[1] The affected tissue becomes weak and brittle with time, leading to chronic inflammation, joint pain, and osteoarthritis. Alkaptonuria is inherited in an autosomal recessive manner. Alkaptonuria can be diagnosed based on the symptoms, laboratory testing, and genetic testing. There is no specific treatment for ochronosis associated with alkaptonuria and treatment is based on the symptoms.[1] 

When ochronosis is due to exposure to substances (called exogenous ochronosis), the condition is not inherited.[2][3] Exogenous ochronosis is associated with malarial drugs, skin-lightening creams and over-exposure to the sun. Other than the skin findings, there are no other health affects. Exogenous ochronosis is difficult to diagnose.  There is no specific treatment for this condition. Several different treatment options are available including prescription skin creams, vitamins, and laser treatments.[2] 
Last updated: 4/29/2019

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Ochronosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

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  1. Alkaptonuria. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/alkaptonuria/.
  2. Vashi N. Kundu R. Acquired hyperpigmentation disorders. UpToDate. Sept 28, 2017; https://www.uptodate.com/contents/acquired-hyperpigmentation-disorders.
  3. Bhattar PA, Zawar VP, Godse KV, Patil SP, Nakarni NJ, Gautam MM. Exogenous Ochronosis. Indian J Derm. Nov-Dec 2015; 60(6):537-43. https://www.ncbi.nlm.nih.gov/pubmed/26677264.