Difference between revisions of "Ochronosis"
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'''Ochronosis''' is a disease characterized by the accumulation of homogentisic acid | '''Ochronosis''' is a disease characterized by the accumulation of homogentisic acid. | ||
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 | '''Alcaptonuria''' is a specific genetic defect that causes ochronosis.<ref>{{OMIM|203500}}</ref> | ||
==General== | |||
It is subclassified as: | |||
*Endogenous (genetic). | |||
*Exogenous. | |||
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> | |||
==Gross== | ==Gross== | ||
Revision as of 13:59, 1 February 2013
Ochronosis is a disease characterized by the accumulation of homogentisic acid.
Alcaptonuria is a specific genetic defect that causes ochronosis.[1]
General
It is subclassified as:
- Endogenous (genetic).
- Exogenous.
The endogenous form is genetic and autosomal recessive.[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:
- 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]
- Ochronosis - skin (dermpedia.org).[5]
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 203500
- ↑ 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.
- ↑ 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.
- ↑ URL: http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40. Accessed on: 1 February 2013.