Multiple Enchondromatosis OMIM

Description: ENCHONDROMATOSIS, MULTIPLE Alternative titles; symbols OSTEOCHONDROMATOSIS DYSCHONDROPLASIA MAFFUCCI SYNDROME, INCLUDED OLLIER DISEASE, INCLUDED enchondromatosis was found by Hopyan et al. (2002) to be caused by mutation in the PTH/PTHRP type I receptor (PTHR1; 168468.0007). However, Rozeman et al. (2004), in an extensive study of enchondromas and chondrosarcomas from 31 enchondromatosis patients from 3 different European countries, found no abnormality of expression of PTHR1 protein by immunochemistry, found no instance of the arg150-to-cys mutation, and found no other causative mutation in the PTHR1 gene. CLINICAL FEATURES Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Spondyloenchondromatosis, also known as spondyloenchondrodysplasia (271550), appears to be a distinct entity, inherited as an autosomal recessive. The combination of enchondromatosis and multiple exostoses characterizes metchondromatosis (156250).