Ochronosis - Symptoms

Symptoms

  • Skin: The pigment is deposited throughout the skin but only becomes apparent in certain locations where the concentration is great enough to be seen clinically. This usually occurs in areas where connective tissue is thick (joints, tympanic membrane) or close to the surface of the skin (thenar and hypothenar eminences and the sides of the fingers). In exogenous ochronosis, the hyperpigmentation is localized to the area where the inciting agent is applied. Intradermal nevi can appear like blue nevi.
  • Eye: The most obvious change is darkening around the palpebral fissure. The cornea can become hyperpigmented if exposed to phenol vapors.
  • Cartilage: Darkening and hardening of ear cartilage is a prominent feature of ochronosis. Nasal cartilage is also frequently involved. The voice can be affected by hardening of the laryngeal cartilage. Stiffening of the ribs with decreased lung function has also been reported. The intravertebral cartilage is also more prone to herniation.
  • Connective tissue: Hardening of tendons and ligaments can predispose them to rupture. Color changes in the joints can be observed clinically. Arthropathy is common due to chronic inflammation and microruptures.
  • Heart valves: Stenosis can results from the increased rigidity of the connective tissue as well as chronic inflammation.

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