Ochronosis
Ochronosis is a rare metabolic disorder characterized by the accumulation of a pigment called homogentisic acid in connective tissues. This condition often leads to a bluish-black discoloration of the skin, cartilage, and other tissues, particularly in areas such as the ears and eyes. Ochronosis is commonly associated with Alkaptonuria, a genetic disorder caused by a deficiency in the enzyme that breaks down homogentisic acid.
The symptoms of Ochronosis can also include joint pain and stiffness, as the pigment buildup can affect cartilage and lead to arthritis. Diagnosis typically involves urine tests that detect elevated levels of homogentisic acid. While there is no cure, management focuses on alleviating symptoms and preventing complications.