Difference between revisions of "Ochronosis"
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'''Ochronosis''' is a disease characterized by the accumulation of homogentisic acid. It is subclassified as ''endogenous'' and ''exogenous''. | '''Ochronosis''' is a disease characterized by the accumulation of homogentisic acid. It is subclassified as ''endogenous'' and ''exogenous''. | ||
The | The endogenous form is genetic and autosomal recessive.<ref name=pmid20055850>{{Cite journal | last1 = Turgay | first1 = E. | last2 = Canat | first2 = D. | last3 = Gurel | first3 = MS. | last4 = Yuksel | first4 = T. | last5 = Baran | first5 = MF. | last6 = Demirkesen | first6 = C. | title = Endogenous ochronosis. | journal = Clin Exp Dermatol | volume = 34 | issue = 8 | pages = e865-8 | month = Dec | year = 2009 | doi = 10.1111/j.1365-2230.2009.03618.x | PMID = 20055850 }}</ref> '''Alcaptonuria''' is a specific genetic defect that causes ochronosis.<ref>{{OMIM|203500}}</ref> | ||
</ref> | |||
==Gross== | ==Gross== | ||
* | *Tissue with blue-grey discolourization.<ref name=pmid21768245>{{Cite journal | last1 = Baeva | first1 = M. | last2 = Bueno | first2 = A. | last3 = Dhimes | first3 = P. | title = AIRP best cases in radiologic-pathologic correlation: ochronosis. | journal = Radiographics | volume = 31 | issue = 4 | pages = 1163-7 | month = | year = | doi = 10.1148/rg.314105175 | PMID = 21768245 }}</ref> | ||
**Affected tissues: articular and auricular [[cartilage]], tendons, ligaments [[heart valves]], sclera, cornea. | |||
*Dark urine (after exposure to sunlight). | |||
==References== | ==References== | ||
Revision as of 13:26, 1 February 2013
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).
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
- ↑ 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.