Ochronosis: Difference between revisions

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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.

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>

'''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==

*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.

**Affected tissues: articular and auricular [[cartilage]], tendons, ligaments [[heart valves]], [[sclera]], cornea.

*Dark urine (after exposure to sunlight).

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==Microscopic==

Features ~~- cartilage~~:

Features:

*Deposits of (acellular) brown pigment (H&E sections) - '''key feature'''.

**May be dark magenta.

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*[http://radiographics.rsna.org/content/31/4/1163/F11.expansion.html Ochronosis - cartilage (rsna.org)].<ref name=pmid21768245/>

*[http://radiographics.rsna.org/content/31/4/1163/F12.expansion.html Ochronosis - soft tissue (rsna.org)].<ref name=pmid21768245/>

*[http://www.clinmedres.org/content/2/4/209/F1.expansion.html Ochronosis - aortic valve (clinmedres.org)].<ref name=pmid15931360>{{Cite journal | last1 = Fisher | first1 = AA. | last2 = Davis | first2 = MW. | title = Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. | journal = Clin Med Res | volume = 2 | issue = 4 | pages = 209-15 | month = Nov | year = 2004 | doi = | PMID = 15931360 }}</ref>

*[http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40 Ochronosis - skin (dermpedia.org)].<ref>URL: [http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40 http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40]. Accessed on: 1 February 2013.</ref>

==See also==

*[[Heart valves]].

*[[Joints]].

==References==

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[[Category:Weird stuff]]

[[Category:Diagnosis]]

@@ Line 1: / Line 1: @@
-'''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.
-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>
+'''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==
 *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.
+**Affected tissues: articular and auricular [[cartilage]], tendons, ligaments [[heart valves]], [[sclera]], cornea.
 *Dark urine (after exposure to sunlight).
@@ Line 13: / Line 20: @@
 ==Microscopic==
-Features - cartilage:
+Features:
 *Deposits of (acellular) brown pigment (H&E sections) - '''key feature'''.
 **May be dark magenta.
@@ Line 20: / Line 27: @@
 *[http://radiographics.rsna.org/content/31/4/1163/F11.expansion.html Ochronosis - cartilage (rsna.org)].<ref name=pmid21768245/>
 *[http://radiographics.rsna.org/content/31/4/1163/F12.expansion.html Ochronosis - soft tissue (rsna.org)].<ref name=pmid21768245/>
+*[http://www.clinmedres.org/content/2/4/209/F1.expansion.html Ochronosis - aortic valve (clinmedres.org)].<ref name=pmid15931360>{{Cite journal  | last1 = Fisher | first1 = AA. | last2 = Davis | first2 = MW. | title = Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. | journal = Clin Med Res | volume = 2 | issue = 4 | pages = 209-15 | month = Nov | year = 2004 | doi =  | PMID = 15931360 }}</ref>
+*[http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40 Ochronosis - skin (dermpedia.org)].<ref>URL: [http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40 http://www.dermpedia.org/conference/wwwdermatopathologyconsultationscom?page=40]. Accessed on: 1 February 2013.</ref>
+==See also==
+*[[Heart valves]].
+*[[Joints]].
 ==References==
@@ Line 25: / Line 38: @@
 [[Category:Weird stuff]]
+[[Category:Diagnosis]]

Ochronosis: Difference between revisions

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