Ochronosis

Common Name(s)

Ochronosis

Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations. It often occurs in individuals with alkaptonuria, a metabolic disorder; it can also occasionally occur from exposure to various substances. Alkaptonuria is caused by a mutation in the HGD gene, which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage, causing the characteristic coloring of ochronosis. The affected tissue becomes weak and brittle with time, leading to chronic inflammation, degeneration, and osteoarthritis. Alkaptonuria is inherited in an autosomal recessive manner. When ochronosis is due to exposure to substances (called exogenous ochronosis), the condition is not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ochronosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ochronosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ochronosis" returned 22 free, full-text research articles on human participants. First 3 results:

Dermoscopic criteria for differentiating exogenous ochronosis from melasma.
 

Author(s): Niti Khunger, Rajat Kandhari

Journal: Indian J Dermatol Venereol Leprol. ;79(6):819-21.

 

Last Updated: 1 Nov 2013

Go To URL
Exogenous ochronosis.
 

Author(s): Avina Jain, Sathish B Pai, Shrutakirthi D Shenoi

Journal: Indian J Dermatol Venereol Leprol. ;79(4):522-3.

 

Last Updated: 13 Jun 2013

Go To URL
Images in clinical medicine. Ochronosis.
 

Author(s): Andrea Ryan, Louise O'Toole

Journal: N. Engl. J. Med.. 2012 Nov;367(18):e26.

 

Last Updated: 1 Nov 2012

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ochronosis" returned 5 free, full-text review articles on human participants. First 3 results:

On the ocular findings in ochronosis: a systematic review of literature.
 

Author(s): Moritz Lindner, Thomas Bertelmann

Journal:

 

Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of 1-9/1,000,000. ...

Last Updated: 6 Feb 2014

Go To URL
Exogenous ochronosis: case report and literature review.
 

Author(s): Viviane Maria Rocha Martins, Antônio Renê Diógenes de Sousa, Natália de Carvalho Portela, Celina Aguiar Frota Tigre, Lucidi Maria Saraiva Gonçalves, Rômulo José de Lucena Castro Filho

Journal: An Bras Dermatol. ;87(4):633-6.

 

Exogenous ochronosis is a rare, cosmetically disfiguring condition, resulting from the longterm use of topical hydroquinone in treatment of melasma. It manifests as gray-brown or blue-black macules in hydroquinone-exposed regions. The exact incidence of ochronosis is unknown. High ...

Last Updated: 15 Aug 2012

Go To URL
Ochronosis: a report of three cases and review of the literature.
 

Author(s): S V Babanagare, S D Deshmukh, M S Khadilkar, A A Patil

Journal: Indian J Pathol Microbiol. ;54(3):626-8.

 

Last Updated: 21 Sep 2011

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Alkaptonuria
 

Status: Recruiting

Condition Summary: Alkaptonuria

 

Last Updated: 11 Nov 2014

Go to URL
Suitability of Nitisinone in Alkaptonuria 2
 

Status: Not yet recruiting

Condition Summary: Alkaptonuria

 

Last Updated: 5 Aug 2013

Go to URL