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What is Ochronosis?

Tricia Christensen
By
Updated Mar 03, 2024
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Ochronosis may be often seen with the term alkaptonuria. The two words may be used together and are sometimes considered interchangeable, or the former is described as the predominant symptoms or manifestations of alkaptonuria. In alkaptonuria, a rare genetically inherited disorder, the body cannot process the amino acid tyrosine and this leads to a variety of symptoms that gradually worsen and cannot be cured. The symptoms are called ochronosis, but the symptoms may occur from other causes too. This simply means that the relationship between the two conditions is not exclusive.

As mentioned, ochronosis can result from tyrosine build up, but it may also occur when people can’t break down phenylalanines. In rare instances, this group of symptoms may result from an exogenous or outside factor. Use of certain medications like hydroquinone has been shown to induce the condition, but this reaction is extremely rare.

The expression of ochronosis is usually associated with symptoms like darkening of certain parts of the cartilage, skin, and eyes. There may be dark blue pigment present in the eyes, between the pupil and outside corner. One obvious symptom might occur when urine turns blue in babies which will be visible in their diapers. The ears may have a blue coloration too, as can the nose.

The blue color isn’t uncomfortable. Of more concern is that cartilage tends to get thicker over time and this may lead to arthritic conditions and the eventual need of joint replacement. In some people heart valves can become affected too, requiring valve replacement, and/or people have painful problems with urinary tract.

Though life expectancy may not be altered for people with ochronosis, living can get progressively more uncomfortable as symptoms manifest and worsen. Unfortunately with conditions like alkaptonuria, there really isn’t a treatment. It’s possible that exogenous ochronosis could be helped by discontinuation of medication, and its presence on the skin is sometimes removable with laser treatment.

In the absence of cure for endogenous (from inside the body) types, there is certainly treatment. People who have ochronosis benefit from support from a doctor who can treat worsening arthritis and who may make sure that the heart and urinary tract are kept in good health and monitored so they stay that way. In early stages, people might not need much in the way of treatment except for the occasional dose of medications like ibuprofen to relieve minor joint pain. Vitamin C therapy may be useful too, and if the disease is caught early, many doctors advocate that people follow a low protein diet.

TheHealthBoard is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Tricia Christensen
By Tricia Christensen , Writer
With a Literature degree from Sonoma State University and years of experience as a TheHealthBoard contributor, Tricia Christensen is based in Northern California and brings a wealth of knowledge and passion to her writing. Her wide-ranging interests include reading, writing, medicine, art, film, history, politics, ethics, and religion, all of which she incorporates into her informative articles. Tricia is currently working on her first novel.

Discussion Comments

By anon989606 — On Mar 13, 2015

My advice is don't use any cream without first consulting your doctor

By bluedolphin — On Aug 04, 2012

Alkaptonuria is a scary disease. I was really young then, but I do remember my grandmother who had all the ochronosis symptoms. Especially towards the end of her life, her hands, eyes and ears had become really blue.

At least now, laser treatment is available for people who suffer from this. But in those years, there was basically no treatment whatsoever. And people just had to watch their symptoms get worse. My grandmother didn't let it get to her, but I'm sure she would have had she been younger.

I hope in the future, more treatments can be found for alkaptonuria and orchronosis. I would especially like to see this happen for kids who suffer from these symptoms.

By turquoise — On Aug 03, 2012

@fBoyle-- I have!

I also made the terrible mistake of using bleaching cream with hydroquinone in it. I had some dark spots and blemishes on my face that I wanted to get rid of and I thought that this cream would resolve it for good.

After about three months of regularly using this cream, I started to notice that parts of my skin was becoming a bluish-grayish color. As soon as I realized this, I stopped using the cream. It has been close to a year and I still have some ochronosis discoloration on my face!

While trying to improve my skin appearance, I made things so much worse. Please don't use creams with hydroquinone in it! There is no guarantee that you won't get ochronosis and it might be permanent. It's just not worth it!

By fBoyle — On Aug 03, 2012

I just started using a new skin cream and I saw that one of the main ingredients is hydroquinone. My friend suggested this cream to me. She's Asian and she says that skin lightening creams are really popular in Asia. It apparently can make skin several shades lighter with regular use.

I'm not very dark, but I do admire lighter skin tones which is why I'm using this cream. I just found out about the risk of ochronosis but that's really rare right?

Has anyone here actually developed ochronosis because of hydroquinone?

Tricia Christensen

Tricia Christensen

Writer

With a Literature degree from Sonoma State University and years of experience as a TheHealthBoard contributor, Tricia...
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