Ochronosis
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Ochronosis is a disease characterized by the accumulation of homogentisic acid. It is subclassified as endogenous and exogenous.
The endogenous form is genetic and autosomal recessive.[1] Alcaptonuria is a specific genetic defect that causes ochronosis.[2]
Gross
- Tissue with blue-grey discolourization.[3]
- Affected tissues: articular and auricular cartilage, tendons, ligaments heart valves, sclera, cornea.
- Dark urine (after exposure to sunlight).
Images:
Microscopic
Features - cartilage:
- Deposits of (acellular) brown pigment (H&E sections) - key feature.
- May be dark magenta.
Images:
- Ochronosis - cartilage (rsna.org).[3]
- Ochronosis - soft tissue (rsna.org).[3]
- Ochronosis - aortic valve (clinmedres.org).[4]
References
- ↑ Turgay, E.; Canat, D.; Gurel, MS.; Yuksel, T.; Baran, MF.; Demirkesen, C. (Dec 2009). "Endogenous ochronosis.". Clin Exp Dermatol 34 (8): e865-8. doi:10.1111/j.1365-2230.2009.03618.x. PMID 20055850.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 203500
- ↑ 3.0 3.1 3.2 Baeva, M.; Bueno, A.; Dhimes, P.. "AIRP best cases in radiologic-pathologic correlation: ochronosis.". Radiographics 31 (4): 1163-7. doi:10.1148/rg.314105175. PMID 21768245.
- ↑ Fisher, AA.; Davis, MW. (Nov 2004). "Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.". Clin Med Res 2 (4): 209-15. PMID 15931360.