Learn About Ochronosis

What is the definition of Ochronosis?
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 associated with alkaptonuria is caused by a genetic change in the HGD gene, which results in the accumulation and deposition of homogentisic acid (HGA) in cartilage. 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. When Ochronosis is due to exposure to substances (called exogenous Ochronosis), the condition is not inherited. 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 may be hard to diagnose.
What are the alternative names for Ochronosis?
  • Ochronosis
Who are the top Ochronosis Local Doctors?
Elite in Ochronosis
Elite in Ochronosis
Liverpool, ENG, GB 

Lakshminarayan Ranganath practices in Liverpool, United Kingdom. Ranganath is rated as an Elite expert by MediFind in the treatment of Ochronosis. Their top areas of expertise are Ochronosis, Alkaptonuria, Inborn Amino Acid Metabolism Disorder, and Paget's Disease of Bone.

Elite in Ochronosis
Elite in Ochronosis
College Road, 
Cork, M, IE 

James Gallagher practices in Cork, Ireland. Mr. Gallagher is rated as an Elite expert by MediFind in the treatment of Ochronosis. His top areas of expertise are Ochronosis, Alkaptonuria, Osteoarthritis, and Metachondromatosis.

 
 
 
 
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Elite in Ochronosis
Elite in Ochronosis
Bratislava, BL, SK 

Andrea Zatkova practices in Bratislava, Slovakia. Ms. Zatkova is rated as an Elite expert by MediFind in the treatment of Ochronosis. Her top areas of expertise are Alkaptonuria, Ochronosis, Inborn Amino Acid Metabolism Disorder, and Legius Syndrome.

What are the latest Ochronosis Clinical Trials?
Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria

Summary: The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center