Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in .

Dysspondyloenchondromatosis (DSC) is a rare form of generalized enchondromatosis and characterized by short stature with unequal limb length, multiple enchondromas in metaphyseal and diaphyseal parts of the long tubular bones, and progressive kyphoscoliosis. Although the gene mutation was found to be responsible for DSC, a case of DSC with no pathogenic mutation in the gene has also been reported, suggesting that the condition is genetically heterogeneous. Here, we report 2 novel heterozygous mutations in in 2 patients with DSC. They had prenatal onset short stature with unequal limb length and generalized enchondroma-like lesions in metaphyseal and diaphyseal parts of the long tubular bones, and osteopenia. The first patient was diagnosed at 3 months of age and followed for 10.5 years. Severe lumbosacral scoliosis and recurrent fractures were observed. The second patient was diagnosed at the age of 4 years. Mild deterioration in scoliosis was observed during the 3-year-long follow-up period. However, skeletal radiography of both patients showed the improvement of enchondromatous lesions. In conclusion, we verified that the gene mutations are responsible for the DSC phenotype. We observed severe osteopenia and fractures which were not reported previously.