Osteochondroma of the Distal Clavicle: A Rare Cause of Impingement and Biceps Tear of the Shoulder

Hereditary multiple exostosis (HME) is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Although the lesions are benign in nature, exostoses are often associated with characteristic progressive skeletal deformity and displaying clinical symptoms such as mechanical irritation or impingement. We present the successful arthroscopic resection in a 24-year-old HME male with impingement syndrome and long head tendon tear of the biceps caused by osteochondroma arising from the distal clavicle.

Minimally Invasive Total Hip Arthroplasty in a Patient with Hereditary Multiple Exostoses: A Case Report

@#Hip geometry abnormalities found in patients with hereditary multiple exostoses (HME) could promote premature hip joint degeneration which needs treatment. We report the case of a 45-year old male with right hip arthrosis who underwent two-incision minimally invasive (MIS-2) total hip arthroplasty (THA), with satisfactory outcome. This technique could be an alternative approach for performing THA in patients with hereditary multiple exostoses.

Research progress in hereditary multiple exostoses / 临床儿科杂志

Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the lfat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME.

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria / Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses

Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1 / EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de cartílago, localizadas en yuxtaposición a epífisis de huesos largos, aunque, en los casos graves, pueden presentar una amplia distribución. El inicio es variable desde los 2-3 años hasta los 13-15 y presenta una incidencia estimada que va de 1/18 000 a 1/50 000 casos en los países europeos. Se presenta el caso de un doble alelo mutante en el gen EXT1 no informado previamente en una adolescente y su familia con exostosis múltiple hereditaria.

Hereditary forms of multiple exostoses, now called EXT1/EXT2-CDG within Congenital Disorders of Glycosylation, are the most common benign bone tumors in humans and clinical description consists of the formation of several cartilage-capped bone tumors, usually benign and localized in the juxta-epiphyseal region of long bones, although wide body dissemination in severe cases is not uncommon. Onset of the Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditariaDouble mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostosesdisease is variable ranging from 2-3 years up to 13-15 years with an estimated incidence ranging from 1/18 000 to 1/50 000 cases in European countries. We present a double mutant alleles in the EXT1 gene not previously reported in a teenager and her family with hereditary multiple exostoses

Cervical Myelopathy Caused by Disc Herniation at the Segment of Existing Osteochondroma in a Patient with Hereditary Multiple Exostoses

Hereditary multiple exostoses (HME) is a benign hereditary disorder characterized by multiple osteochondromas. Osteochondroma appears occasionally in the spinal column as a part of HME. A 37-year-old man presented with a history of HME and cervical compressive myelopathy caused by intraspinal osteochondroma arising from the lamina of the C5 and disc herniation at the C5-6. He was treated by open-door laminoplasty at the C5 and C6 with excision of the tumor. The neurological symptoms were immediately relieved after surgery. Magnetic resonance images demonstrated a sufficient decompression of the spinal cord with a spontaneous regression of the herniated disc at one year after surgery. There was no recurrence of the tumor and no appearance of kyphosis and segmental instability of the cervical spine on postoperative imaging studies for three years after surgery. The patient could be successfully treated by laminoplasty with excision of the tumor and without removal of the herniated disc.

Osteochondroma of the Rib Mimicking a Mediastinal Mass: Unexpected Menifestation in Hereditary Multiple Exostoses / 영남의대학술지

Osteochondroma is a common bone tumor but a rare tumor in the rib. It is often asymptomatic and observed incidentally. This is a case report of a 49-year-old woman with an osteochondroma mimicking a mediastinal mass in hereditary multiple exostoses. The chest X-ray and computed tomography (CT) scans revealed the bony density feature of the mass. Surgical excision confirmed that the lesion was an osteochondroma.

The Alignment and Deformity of the Upper Extremity in Hereditary Multiple Exostoses / 대한골관절종양학회지

PURPOSE: This study was aimed to analyze the incidence and the anatomical distributions of HME (Hereditary Multiple Exostoses) on upper limbs and its related change in alignment of the upper limbs in HME patients. MATERIALS AND METHODS: Thirty eight patients who had been diagnosed HME between 2001 and 2009, were categorized into two groups; (1) group A (1-2 involvements); (2) group B (> or =3 involvements). We checked the carrying angle, VAS (Visual Analogue Scale), limitations in daily activities, cosmetic satisfaction according to the number of exostoses invasion. RESULTS: Among the 38 patients, 23 patients (43 cases) had exostoses in the upper limbs. The locations of exostoses in the upper limbs were proximal humerus in 33 cases (30%), distal ulna in 31 cases (28.2%), and distal radius in 24 cases (21.8%). The carrying angle of group A and B was 10.7degrees, 13.8degrees, VAS was 1.3, 3.5, and the limitations in daily activities was 7.3, 6.6 of 8 points. The cosmetic satisfactory cases were 13 and 10 cases, respectively. CONCLUSION: The deformity in upper limbs was observed in 65% of the HME patients. As the number of invasion increases, carrying angle and VAS were increased but limitations in daily activities and cosmetic satisfaction were decreased.

Deformities of the Lower Extremities in Hereditary Multiple Exostoses / 대한정형외과학회잡지

PURPOSE: This study was done to analyze the alignment and deformity of the lower extremity in hereditary multiple exostoses patients. MATERIALS AND METHODS: We enrolled 32 patients who were diagnosed as having hereditary multiple exostoses (HME) between January 2001 and December 2007. Based on age at diagnosis, we categorized them into 4 groups, A (0-5 years: 6 patients), B (6-10 years: 7 patients), C (11-15 years: 7 patients) and D (>16 years: 12 patients). We measured mechanical axis deviation, This included femorotibial mechanical angle (a), inferolateral angle (b), femoral mechanical proximal anatomical angle (c), femoral mechanical distal anatomical angle (d), distal tibia inferolateral angle (e) and femoral neck-shaft angle (f). We analyzed for differences among the groups of different ages. RESULTS: The average femorotibial mechanical angles (a) of Groups A/B/C/D were respectively, 178.5degrees/180.3degrees/182.5degrees/183.5degrees (p<0.05). Distal tibia inferolateral angles (e) were respectively, 91.9degrees/93.5degrees/94.2degrees/102.9degrees (p<0.05). The mechanical axis deviation of groups A, B, C, and D, respectively, were 1.7 mm, 6.0 mm, 9.6 mm, and 13.4 mm (p<0.05) on the right side, and 2.9 mm, 7.6 mm, 12.2 mm, and 15.2 mm (p<0.05) on the left side. CONCLUSION: Patients with HME have a tendency towards having valgus deformities of the knee and ankle joints, which tend to increase with age.

A Report of Hereditary Multiple Exostoses in A Family / 实用放射学杂志

Objective To approach the involved position and regulation as well as the clinical characteristics of hereditary multiple exostoses(HME).Methods One HME pedigrees including men and women 7 cases respectively confirmed clinically and pathologically was analysed.Results The most common location of exostoses was metaphysis of long bones.No exostoses was found in craniofacial bone.Conclusion There is no sex difference in the incidence of HME and the location of exostoses is mostly at metaphysis of long bones in this family.