We present the case of a 53-year-old woman with a known history of hereditary multiple exostosis disease referred for further imaging work-up after ultrasound and computed tomography leading to the suspicion of malignant transformation of an osteochondroma (exostosis) located on the posteromedial aspect of the right proximal femur. Imaging examinations suggested an ischiofemoral impingement resulting in a secondary bursitis associated with the development of an internal lipoma arborescens. This rare association explained the complexity of the diagnosis. Magnetic resonance imaging (MRI) played a key role in correctly identifying this benign complication of the osteochondroma and in distinguishing those observations from a secondary exostotic chondrosarcoma. MRI findings were subsequently confirmed at surgery and pathological examination.

Screening and identifying the gene mutation of EXT1, EXT2 and EXT3 associated with multiple exostosis (ME) and the expression in tumor tissues.
Nine patients with multiple exostosis were collected and genomic DNA was extracted. Polymerase chain reaction (PCR) amplification and direct sequencing techniques were used to screen all exons, 5\' and 3\' ends of the EXT1, EXT2 and EXT3 related causative genes. EXT1, EXT2 and EXT3 gene were screened and quantified by RNA-SEQ and RT-qPCR. The concentration of calcitonin gene-related peptide (CGRP) in peripheral blood of tumor patients and normal controls was detected by ELISA.
Between the two patients with ME, the EXT1 gene was found in one patient to have c.79 T>A mutation, which caused the change of p.M27T, the non polar methionine was replaced by the high frequency mutation of polar threonine, and the rest of patients was found the splicing mutation c.1284 + 8 delAT of the heterozygosity of the EXT1 gene. The serum CGRP concentration of ME patients (623 + 49 pg/ml) was significantly higher than that of normal controls (196 + 68 pg/ml), and EXT1 mutation patients were also higher than non mutation patients.

Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

General orthopedic surgeons frequently encounter patients with conditions affecting multiple bones. It is important to recognize common polyostotic diseases. This article describes five polyostotic conditions: Multipe Enchondromatosis (Ollier Disease and Maffucci syndrome), Multiple Hereditary Exostosis (Diaphyseal Aclasis), Fibrous Dysplasia (McCune-Albright syndrome and Mazabraud syndrome), Paget\'s Disease of bone (Osteitis Deformans), and Skeletal Metastases. This is a survey of the clinical, pathologic and radiographic features that assist in diagnosing these conditions. Also, an overview of the laboratory findings, treatment, follow-up, and prognosis is presented. Recognizing these diseases will aid in prompt and accurate diagnosis and appropriate referral and therapy.