Clinical and radiological evaluations are conducted in order to detect the presence of bone neoplasms or lesions typically found in<unk> . Histological evaluations are mainly used to examine or detect malignancies. Abnormal bone growth such as shortening or thickening and deformity may be observed in patients of<unk> . These bone lesions are visible at birth using radiography but are usually not screened or examined for until clinical manifestations present during early childhood. However, some patients may exhibit no signs of any symptoms. One study found thirteen to be the mean age of diagnosis in patients with<unk> . In a roentgenogram, there would normally be the presence of several homogeneous lesions of an oval or elongated shape with bone edges that are slightly thickened. With age, these lesions may calcify and appear as diffusely minute spots or stippled. Fan-like septations or streaks would be indicative of the presence of several enchondromas. Early detection and consistent and repeated monitoring is important in order to prevent and treat any potential bone neoplasms. Magnetic resonance imaging (MRI), ultrasound, and scintigraphy are generally not practical for diagnostic purposes. X-rays are not as effective in the monitoring or evaluation of enchondromas due to frequent localized changes also sometimes due to the large number of enchondromas. MRI can sometimes however be used to monitor and evaluate symptomatic lesions in the case of potential malignant transformations. Similar disorders such as Maffucci syndrome and hereditary multiple exostoses (HME) require differentiation during diagnosis. Maffucci syndrome can be distinguished clinically by the presence of hemangiomas and lymphangiomas and genetically through R132C IDH1 hotspot mutations. HME features osteochondromas which are near the surface the bone whereas enchondromas featured in<unk>  and Maffucci are more towards the center of the bone. Also, neural compressions are more commonly found in HME than in<unk> .
Ollier disease
Degos disease
Fox–Fordyce disease
Bayoud disease
Pott disease
Salla disease
Kyrle disease
Texier's disease