Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we show that two zebrafish mutants, dackel (dak) and pinscher (pic), have cartilage defects that strongly resemble those seen in HME patients. We have...

We defined the characteristics of dysplasia and coxa valga in hereditary multiple exostoses (HME) by radiological analysis of 24 hips in 12 patients. The degree and effect of the 'osteochondroma load' around the hip were quantified. We investigated the pathology of the labrum and the incidence of osteoarthritis and of malignant change in these patients. Coxa valga and dysplasia were common with...

A 40 year old man with hereditary multiple exostoses (HME), affecting predominantly his left proximal tibia, distal femur, and proximal femur, underwent resection of an osteochondroma near the trochanter major of his left proximal femur because of malignant transformation of the cartilaginous cap towards secondary peripheral chondrosarcoma. The patient had a history of a papillary thyroid carci...

Histologically, osteochondromas are hamartomas developed from endochondral ossification which are coated with a thin cartilage layer [1]. Epidemiologically, these are the most frequent benign tumor, after nonossifying fibromas and metaphyseal lacunae, representing, in the Unni series [2], about 40 % of all benign tumors, and they are located preferentially at the metaphyseal level of long bones...

HS in 2 month-old tibial growth plates from WT (AB) and Ext1Ext2 mutants (C-D). Note that staining is much stronger in WT(A) than mutant tissue (C). Background staining in control sections is shown in (B) and (D). gp, growth plate; bm, bone marrow. Bar: 200 μm Mechanisms of Exostosis Formation In a Mouse Model of Hereditary Multiple Exostoses +Huegel J; Mundy C; Koyama E; Yamaguchi Y; Esko J; P...