Ollier disease and Maffucci syndrome - diagnosis and treatment of biomechanically severe lower limb deformities
Abstract
Ollier's disease (OD) and Maffucci syndrome (MaSy) are most common non-hereditary subtypes of enchondromatosis. The other subtypes (metachondromatosis, genochondromatosis, spondyloenchondrodysplasia, dysspondyloenchondromatosis and cheirospondyloenchondromatosis) are extremely rare and some of them are autosomal dominant or recessive.
For a long time enchondromas have been considered to be developmental disorders caused by the failure of normal endochondral bone formation. According to Nosology and Classification of Genetic Skeletal Disorders - 2010 Revision OD & MaSy belong to the 29th group called "Disorganized development of skeletal comonents group".
Active hedgehog signaling is reported to be important for enchondroma development and PTH1R mutations have been identified in ~10% of Ollier patients. Both case reports - the 1st patient with Ollier's disease and the 2nd one with Maffuci syndrome - demonstrate typical clinical features with biomechanically severe deformities of the lower limbs.
The authors describ treatment options for patients affected by these diseases. Long term comprehensive treatment requires corrective osteotomies and lengthening procedures with the aim to restore biomechanical axis and the length of legs.
The histological investigation of growing tumour at the right femur proved a chondroma with suspicion on incipient malignisation in the patient with OD in the age 21 years and 7 months. In the patient with MaSy an atypical proliferative enchondroma and low grade chondrosarcomas (grade I) at the 2nd and the 4th digit of the left hand were proved in the age 30 years and 2 months.
The case reports advertise on typical clinical findings and radiological features and high risk of malignant transformation of enchondromas into chondrosarcomas (grade I- III) especially in adulthood when oncologic monitoring (X-ray of lungs, MRI scans of affected regions, oncologic and biochemical screening, etc.) and surgical treatment is imperative.