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Difference between revisions of "Connective tissue diseases"
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'''Connective tissue diseases''' are infrequently seen by [[pathologist]]s. | '''Connective tissue diseases''', also '''connective tissue disorders''', are infrequently seen by [[pathologist]]s. | ||
They may be very important in the context of [[forensic pathology]], as they may be an explanation for multiple fractures | They may be very important in the context of [[forensic pathology]], as they may be an explanation for multiple fractures, which may be seen in child abuse. | ||
=Specific entities= | |||
==Mixed connective tissue disease== | |||
*Abbreviated ''MCTD''. | |||
===General=== | |||
*A wastebasket diagnosis in [[rheumatology]]. | |||
Serology - classic, non-[[specificity|specific]]: | |||
*Anti-U1-RNP (ribonucleoprotein) +ve,<ref name=pmid20722023>{{Cite journal | last1 = Sato | first1 = T. | last2 = Fujii | first2 = T. | last3 = Yokoyama | first3 = T. | last4 = Fujita | first4 = Y. | last5 = Imura | first5 = Y. | last6 = Yukawa | first6 = N. | last7 = Kawabata | first7 = D. | last8 = Nojima | first8 = T. | last9 = Ohmura | first9 = K. | title = Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease. | journal = Arthritis Rheum | volume = 62 | issue = 12 | pages = 3730-40 | month = Dec | year = 2010 | doi = 10.1002/art.27700 | PMID = 20722023 }}</ref> | |||
Usually has some features of:<ref>URL: [http://www.merckmanuals.com/home/bone_joint_and_muscle_disorders/autoimmune_disorders_of_connective_tissue/mixed_connective_tissue_disease_mctd.html http://www.merckmanuals.com/home/bone_joint_and_muscle_disorders/autoimmune_disorders_of_connective_tissue/mixed_connective_tissue_disease_mctd.html]. Accessed on: 18 February 2012.</ref> | |||
*[[Systemic lupus erythematosus]]. | |||
*Systemic sclerosis. | |||
*[[Polymyositis]]. | |||
==Ehlers-Danlos syndrome== | |||
{{Main|Ehlers-Danlos syndrome}} | |||
==Marfan syndrome== | ==Marfan syndrome== | ||
| Line 13: | Line 24: | ||
==Osteogenesis imperfecta== | ==Osteogenesis imperfecta== | ||
*Abbreviated ''OI''. | |||
===General=== | ===General=== | ||
*Rare. | *Rare. | ||
*Numerous subtypes. | *Numerous subtypes - mild-to-severe symptoms/survival. | ||
*May be misdiagnosed as child abuse.<ref name=pmid21716141>{{Cite journal | last1 = Singh Kocher | first1 = M. | last2 = Dichtel | first2 = L. | title = Osteogenesis imperfecta misdiagnosed as child abuse. | journal = J Pediatr Orthop B | volume = 20 | issue = 6 | pages = 440-3 | month = Nov | year = 2011 | doi = 10.1097/BPB.0b013e328347a2e1 | PMID = 21716141 }}</ref> | |||
Clinical: | |||
*+/-Blue sclerae.<ref name=pmid1202551>{{Cite journal | last1 = Smith | first1 = R. | last2 = Francis | first2 = MJ. | last3 = Bauze | first3 = RJ. | title = Osteogenesis imperfecta. A clinical and biochemical study of a generalized connective tissue disorder. | journal = Q J Med | volume = 44 | issue = 176 | pages = 555-73 | month = Oct | year = 1975 | doi = | PMID = 1202551 }}</ref> | |||
*Multiple fractures. | |||
===General=== | |||
*Classic - tibial bowing (saber shins).<ref name=pmid4703203>{{Cite journal | last1 = Milgram | first1 = JW. | last2 = Flick | first2 = MR. | last3 = Engh | first3 = CA. | title = Osteogenesis imperfecta. A histopathological case report. | journal = J Bone Joint Surg Am | volume = 55 | issue = 3 | pages = 506-15 | month = Apr | year = 1973 | doi = | PMID = 4703203 |URL = http://www.jbjs.org/article.aspx?volume=55&page=506 }} | |||
</ref> | |||
===Microscopic=== | ===Microscopic=== | ||
Features:<ref name=pmid4703203/> | |||
*Abundant plump osteoblasts (infants only). | |||
*Paucity of bony matrix. | |||
*Premature calcification of osteoid. | |||
Images: | Images: | ||
*[http://path.upmc.edu/cases/case706.html OI - type 2 (upmc.edu)]. | *[http://path.upmc.edu/cases/case706.html OI - type 2 (upmc.edu)]. | ||
==See also== | |||
*[[Basics]]. | |||
==References== | ==References== | ||
{{Reflist|2}} | |||
[[Category:Weird stuff]] | [[Category:Weird stuff]] | ||