Ollier disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors develop close to growth plate cartilage. Prevalence is estimated at around 1 in 100,000.

Presentation

Nominally, the disease consists of multiple enchondroma

Enchondroma

An Enchondroma is a cartilage cyst found in the bone marrow. Typically, enchondroma is discovered on a X-ray scan. Enchondromas have a characteristic appearance on Magnetic Resonance Imaging as well. They have also been reported to cause increased uptake on PET...

s which usually develop in childhood. On radiographs, streaks of low density are seen projecting through the diaphyses into the epiphyses of the long bones, due to ectopic cartilage deposits. With age, the cartilage may calcify in the typical "snowflake" pattern. The affected extremity is shortened (asymmetric dwarfism) and sometimes bowed due to epiphyseal fusion anomalies. Persons with Ollier Disease are prone to breaking bones and normally have swollen, aching limbs. One person in every 100,000 is affected. Ollier Disease is not normally diagnosed until toddler years because it is not very visible.

Associated conditions

Ollier Disease carries a high risk of skeletal, visceral and brain malignancy which occurs in approximately 25% of patients. Regular systemic screening is recommended.

Eponyms

The disorder is named after French surgeon

Surgeon

In medicine, a surgeon is a specialist in surgery. Surgery is a broad category of invasive medical treatment that involves the cutting of a body, whether human or animal, for a specific reason such as the removal of diseased tissue or to repair a tear or breakage...

 Louis Léopold Ollier

Louis Léopold Ollier

Louis Léopold Ollier, full name Louis Xavier Édouard Léopold Ollier was a French surgeon born in Les Vans, department of Ardèche. His father and grandfather were also physicians....

 (1830–1900).

A related disorder called Maffucci syndrome named after Angelo Maffucci

Angelo Maffucci

Angelo Maria Maffucci was an Italian pathologist born in the town of Calitri. In 1872 he received his doctorate at Naples, and later was a professor of pathology in Messina , Catania and Pisa...

 is characterized by enchondromas associated with multiple hemangioma

Hemangioma

A hemangioma of infancy is a benign self-involuting tumor of endothelial cells, the cells that line blood vessels. It usually appears during the first weeks of life and sometimes resolves by age 10. In more severe case hemangioma may have permanency, if not treated by a physician...

s which usually occur in the hands and feet. Maffucci syndrome carries a higher risk for cancer.