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== | ||
{{Main|Marfan syndrome}} | {{Main|Marfan syndrome}} | ||
==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]] | ||
Latest revision as of 16:39, 24 March 2012
Connective tissue diseases, also connective tissue disorders, are infrequently seen by pathologists.
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-specific:
- Anti-U1-RNP (ribonucleoprotein) +ve,[1]
Usually has some features of:[2]
- Systemic lupus erythematosus.
- Systemic sclerosis.
- Polymyositis.
Ehlers-Danlos syndrome
Main article: Ehlers-Danlos syndrome
Marfan syndrome
Main article: Marfan syndrome
Osteogenesis imperfecta
- Abbreviated OI.
General
- Rare.
- Numerous subtypes - mild-to-severe symptoms/survival.
- May be misdiagnosed as child abuse.[3]
Clinical:
- +/-Blue sclerae.[4]
- Multiple fractures.
General
- Classic - tibial bowing (saber shins).[5]
Microscopic
Features:[5]
- Abundant plump osteoblasts (infants only).
- Paucity of bony matrix.
- Premature calcification of osteoid.
Images:
See also
References
- ↑ Sato, T.; Fujii, T.; Yokoyama, T.; Fujita, Y.; Imura, Y.; Yukawa, N.; Kawabata, D.; Nojima, T. et al. (Dec 2010). "Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease.". Arthritis Rheum 62 (12): 3730-40. doi:10.1002/art.27700. PMID 20722023.
- ↑ URL: 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.
- ↑ Singh Kocher, M.; Dichtel, L. (Nov 2011). "Osteogenesis imperfecta misdiagnosed as child abuse.". J Pediatr Orthop B 20 (6): 440-3. doi:10.1097/BPB.0b013e328347a2e1. PMID 21716141.
- ↑ Smith, R.; Francis, MJ.; Bauze, RJ. (Oct 1975). "Osteogenesis imperfecta. A clinical and biochemical study of a generalized connective tissue disorder.". Q J Med 44 (176): 555-73. PMID 1202551.
- ↑ 5.0 5.1 Milgram, JW.; Flick, MR.; Engh, CA. (Apr 1973). "Osteogenesis imperfecta. A histopathological case report.". J Bone Joint Surg Am 55 (3): 506-15. PMID 4703203.