Shortened left lower limb and bluish subcutaneous nodules on the distal extremities and oropharynx.
Loading Stack -
0 images remaining
Bilateral metaphyseal/epiphyseal enchondromas and multiple subcutaneous tumors, some with calcifications, especially on the left, suggestive of large hemangiomas. The findings are consistent with Maffucci syndrome.
This 15-year-old male patient is followed up in our hospital since his birth, where an asymmetry between length of the legs was noticed. Early radiological studies showed multiple radiolucent lesions in the distal ends of the tibias and fibulas, consistent with enchondromas. The first diagnosis considered was Ollier disease. Subsequently, a lower right tibial osteotomy was performed in order to establish symmetry between the size of the legs.
When the patient turned 6 years old, bluish subcutaneous nodules were seen, mainly on the left foot and oropharynx, some that also causing bleeding - which were diagnosed as haemangiomas.
This combination of findings - enchondromatosis and soft tissue hemangiomas - is almost pathognomonic of Maffucci syndrome.
25 public playlists include this case
- Msk cases
- Tony's quiz May 2015
- Casos Dr Helio
- Interesting Cases
- Manzoor-Rad Mixed
- Manzoor-Rad MSK
- MSK - Non-Trauma - Dysplasia - Skeletal - Non-Dwarfing
- 2B Mixed Bag 1
- long cases
- patho osseuse
- patho osseuse
- Paeds - MSK bone lesion
- WDHB - MSK
- WDHB - Paediatrics
- MSK - dysplasias, marrow & metabolic
- 18.104.22.168. Siva
- MSK as per path
- Enchondroma vs. Chondrosarcoma
- Viva 12