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#
