Causes of Ochronosis
It is characterized by the accumulation of homogentisic acid in connective tissues.
-
A genetic disorder characterized by a lack of homogentisate 1,2-dioxygenase, resulting in the accumulation of homogentisic acid.
-
Ochronosis can also be caused by exogenous factors such as prolonged use of topical agents such as hydroquinone.
Symptoms of Ochronosis
The following symptoms may develop gradually:
-
Especially on sun-exposed skin, darkened skin is characterized by blue-black pigmentation.
-
The spine, hips, and knees are particularly prone to joint pain and stiffness.
-
Bluish-black discoloration of ear cartilage and sclera.
-
When exposed to air, urine darkens.
Diagnosis of Ochronosis
Diagnosis involves:
-
Reviewing symptoms and possible exposure to causative agents during the medical history and physical examination.
-
Detection of elevated levels of homogentisic acid in urine by urine analysis.
-
X-rays are used to identify joint calcification and degeneration.
-
A biopsy showing characteristic pigmentation in the skin or cartilage.
Treatment of Ochronosis
The goal of treatment is to manage symptoms and prevent complications:
-
Analgesics and anti-inflammatory medications are used to manage pain.
-
Exercises that maintain joint mobility and reduce stiffness are part of physical therapy.
-
Modifications to the diet: Low-protein diet to reduce homogentisic acid production.
-
In the case of severe joint damage, joint replacement surgery is recommended.
-
A discontinuation of causative agents: Avoiding topical agents such as hydroquinone.
Prevention of Ochronosis
Among the prevention strategies are:
-
Individuals with a family history of alkaptonuria should seek genetic counseling.
-
The use of certain medications, such as hydroquinone and other potential skin-lightening agents, should be avoided for a prolonged period of time.
-
Medical check-ups: Early detection and treatment of symptoms.
-
Keeping a healthy lifestyle: Supporting joint health and minimizing additional stress on joints.
Overview of ochronosis, including its causes, symptoms, diagnosis, treatment options, and prevention methods.
