Connective tissue diseases

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Connective tissue diseases 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


Specific entities

Ehlers-Danlos syndrome

Marfan syndrome

Osteogenesis imperfecta

  • Abbreviated OI.

General

  • Rare.
  • Numerous subtypes.
  • May be misdiagnosed as child abuse.[1]

General

  • Classic - tibial bowing (saber shins).[2]

Microscopic

Features:[2]

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

Images:

See also

References

  1. 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.
  2. 2.0 2.1 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.