Connective tissue diseases

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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.


Serology - classic, non-specific:

  • Anti-U1-RNP (ribonucleoprotein) +ve,[1]

Usually has some features of:[2]

Ehlers-Danlos syndrome

Marfan syndrome

Osteogenesis imperfecta

  • Abbreviated OI.


  • Rare.
  • Numerous subtypes - mild-to-severe symptoms/survival.
  • May be misdiagnosed as child abuse.[3]


  • +/-Blue sclerae.[4]
  • Multiple fractures.


  • Classic - tibial bowing (saber shins).[5]



  • Abundant plump osteoblasts (infants only).
  • Paucity of bony matrix.
  • Premature calcification of osteoid.


See also


  1. 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.
  2. URL: Accessed on: 18 February 2012.
  3. 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.
  4. 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. 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.