Ollier disease: Enchondromatosis

An Enchondroma is an island of unossified hyaline cartilage situated within bone (cartilage is the precursor of bone). They are usually multiple, affecting one or several bones. Characteristically, it is an asymmetric disorder, confined to one side of the body. The bones most commonly affected are the long bones, pelvis and bones of the hand. The islands of cartilage appear early in childhood and can develop, but it is very unusual for additional lesions to appear after puberty.

Ollier disease is a very rare disorder which affects both sexes. It presents either as a lump or swelling or deformity of the long bone in early childhood. As the bones are weakened, they may fracture but healing is normal. The severity varies but otherwise the child develops normally. The main complications are the nature of the lump or swelling, the deformity of the affected bone and the shortening of the affected bone. The deformity can be corrected by osteotomy and the shortening can be addressed by leg lengthening in the knowledge that the bones will heal normally. Differential diagnoses of fibrous dysplasia and diaphyseal aclasis need to be considered. It is recognised that malignancy can occur but it is extremely rare. Maffucci syndrome in which there are cutaneous haemangionates associated with the enchondromas does carry a definite risk of malignancy. However, this is a separate and even rarer condition.

Inheritance patterns
None

Prenatal diagnosis
None

Medical text written September 2000 by Mr M Smith. Last updated April 2005 by Mr M Smith, Consultant Orthopaedic Surgeon, Guy's Hospital, London, UK.

A support group for Ollier disease is currently being formed. Families can use Contact a Family's Freephone Helpline for advice, information and, where possible, links to other families. Contact a Family's web-based linking service Making Contact.org can be accessed at http://www.makingcontact.org