MSK - Week 6 (+review session)
Diseases, Disorders, Things that Go
Wrong
osteochondroma is AKA exostosis
osteochondroma definition benign cartilage-capped tumor, attached to the underlying skeleton
by a bony stalk (extension of the cartilaginous plate)
osteochondroma epidemiology 10-30 yrs
osteochondroma presentation - "incidental" finding or pain in long bone metaphysis
- 1-20 cm in size
- typically stop growing with normal growth plates: lesions may rarely progress to
chondrosarcoma
osteochondroma pathology - cartilaginous cap
- disorganized growth plate with ossification towards the base
osteochondroma site metaphysis near the growth plate of long tubular bones, especially near
knee
multiple hereditary exostosis syndrome (MHES) multiple benign cartilage-capped tumors
Mafucci syndrome multiple enchondromas + hemangiomas
Ollier disease multiple enchondromas only
Chondroma (Enchondroma) definition benign tumors of hyaline cartilage
Chondroma (Enchondroma) epidemiology age: 20-50 yrs
Chondroma (Enchondroma) signs/symptoms- often asymptomatic
, - radiology shows central calcification, thin cortex
Chondroma pathologybenign cartilage and reactive bone
Chondroma (Enchondroma) genetics germline loss of function mutations in EXT1 or EXT2
genes (abnormal chondrocyte development)
Enchondroma Benign tumor consisting of cartilage in medullary cavity
Juxtacortical chondroma chondroma on bone surface
chondroblastoma definition benign, chondroid-producing neoplasm composed of chondroblasts
chondroblastoma signs/symptoms - lytic lesion in long bone epiphysis, well-defined margins
- mature cartilage
- insidious onset of bone pain, local swelling, joint stiffness, effusion, limp
- skull bone tumors -> seizures and progressive hearing loss
chondroblastoma site long bone epiphysis
chondroblastoma pathology "chicken wire" matrix = mature or immature chondroid cells and
poorly formed matrix
chondromyxoid fibroma definition benign cartilaginous tumor of young adults, arising in
proximal or distal parts of long bones
chondromyxoid fibroma signs/symptoms - pain/swelling/tenderness/stiffness
- radiology:
- geographic bone destruction
- sclerotic rim
- lobated/scalloped margins
- internal trabeculations
chondromyxoid fibroma sites proximal or distal parts of long bones
chondromyxoid fibroma pathology chondrocytes in various stages of maturation
chondrosarcoma definition malignant tumors that produce cartilage
chondrosarcoma epidemiology age >40s
males>females
chondrosarcoma signs/symptoms - pain, swelling, pain
- pathological fracture
- palpable lump or local mass effect
- nodular, glistening gross appearance of bone
- p53 loss
Diseases, Disorders, Things that Go
Wrong
osteochondroma is AKA exostosis
osteochondroma definition benign cartilage-capped tumor, attached to the underlying skeleton
by a bony stalk (extension of the cartilaginous plate)
osteochondroma epidemiology 10-30 yrs
osteochondroma presentation - "incidental" finding or pain in long bone metaphysis
- 1-20 cm in size
- typically stop growing with normal growth plates: lesions may rarely progress to
chondrosarcoma
osteochondroma pathology - cartilaginous cap
- disorganized growth plate with ossification towards the base
osteochondroma site metaphysis near the growth plate of long tubular bones, especially near
knee
multiple hereditary exostosis syndrome (MHES) multiple benign cartilage-capped tumors
Mafucci syndrome multiple enchondromas + hemangiomas
Ollier disease multiple enchondromas only
Chondroma (Enchondroma) definition benign tumors of hyaline cartilage
Chondroma (Enchondroma) epidemiology age: 20-50 yrs
Chondroma (Enchondroma) signs/symptoms- often asymptomatic
, - radiology shows central calcification, thin cortex
Chondroma pathologybenign cartilage and reactive bone
Chondroma (Enchondroma) genetics germline loss of function mutations in EXT1 or EXT2
genes (abnormal chondrocyte development)
Enchondroma Benign tumor consisting of cartilage in medullary cavity
Juxtacortical chondroma chondroma on bone surface
chondroblastoma definition benign, chondroid-producing neoplasm composed of chondroblasts
chondroblastoma signs/symptoms - lytic lesion in long bone epiphysis, well-defined margins
- mature cartilage
- insidious onset of bone pain, local swelling, joint stiffness, effusion, limp
- skull bone tumors -> seizures and progressive hearing loss
chondroblastoma site long bone epiphysis
chondroblastoma pathology "chicken wire" matrix = mature or immature chondroid cells and
poorly formed matrix
chondromyxoid fibroma definition benign cartilaginous tumor of young adults, arising in
proximal or distal parts of long bones
chondromyxoid fibroma signs/symptoms - pain/swelling/tenderness/stiffness
- radiology:
- geographic bone destruction
- sclerotic rim
- lobated/scalloped margins
- internal trabeculations
chondromyxoid fibroma sites proximal or distal parts of long bones
chondromyxoid fibroma pathology chondrocytes in various stages of maturation
chondrosarcoma definition malignant tumors that produce cartilage
chondrosarcoma epidemiology age >40s
males>females
chondrosarcoma signs/symptoms - pain, swelling, pain
- pathological fracture
- palpable lump or local mass effect
- nodular, glistening gross appearance of bone
- p53 loss
