Home > D. Systemic pathology > Genetic and developmental anomalies > Ollier disease

Ollier disease

MIM.166000

Thursday 21 April 2011

Ollier’s disease

Digital cases

- HPC:223 : Enchondroma in Ollier disease.
- JRC:4372 : Juxtacortical chondroma in Ollier disease.

Definition: Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases).

When hemangiomata are associated, the condition is known as Maffucci syndrome.

Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.

Pathology

- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. (22057234)

See also

- enchondromatosis

  • Maffucci syndrome

References

- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Pansuriya TC, van Eijk R, d’Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Nat Genet. 2011 Nov 6. PMID: 22057234