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Multiple Hereditary Exostoses (Hereditary Multiple Exostoses)

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Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Also Known As:

Hereditary Multiple Exostoses; Exostoses, Multiple; Hereditary Exostoses, Multiple; Multiple Cartilaginous Exostoses; Multiple Exostoses; Multiple Exostosis; Exostoses, Multiple Cartilaginous; Exostoses, Multiple Hereditary; Exostosis, Familial; Exostosis, Hereditary Multiple; Exostosis, Multiple; Exostosis, Multiple Cartilaginous; Hereditary Multiple Exostosis; Aclases, Diaphyseal; Aclasis, Diaphyseal; Cartilaginous Exostoses, Multiple; Cartilaginous Exostosis, Multiple; Chondrodysplasias, Hereditary Deforming; Deforming Chondrodysplasia, Hereditary; Deforming Chondrodysplasias, Hereditary; Diaphyseal Aclases; Familial Exostoses; Familial Exostosis; Hereditary Deforming Chondrodysplasia; Hereditary Deforming Chondrodysplasias; Multiple Cartilaginous Exostosis; Multiple Exostoses, Hereditary; Multiple Exostosis, Hereditary; Multiple Osteochondroma; Multiple Osteochondromas; Osteochondroma, Multiple; Chondrodysplasia, Hereditary Deforming; Diaphyseal Aclasis; Exostoses, Familial; Exostoses, Hereditary Multiple; Osteochondromas, Multiple

Networked: 116 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Congenital Abnormalities (Deformity)
2.	Exostoses
3.	Obesity
4.	Neoplasms (Cancer)
5.	Osteochondroma (Osteocartilaginous Exostosis)

Experts

1.	Wuyts, Wim: 6 articles (01/2015 - 12/2002)
2.	Pacifici, Maurizio: 5 articles (06/2015 - 06/2010)
3.	Kitagawa, Hiroshi: 5 articles (03/2013 - 04/2002)
4.	Koyama, Eiki: 4 articles (06/2015 - 05/2011)
5.	Sugahara, Kazuyuki: 4 articles (03/2013 - 04/2002)
6.	Sgariglia, Federica: 3 articles (06/2015 - 05/2013)
7.	Huegel, Julianne: 3 articles (06/2015 - 05/2013)
8.	Sangiorgi, Luca: 3 articles (01/2015 - 01/2008)
9.	Esko, J D: 3 articles (12/2014 - 09/2000)
10.	Esko, Jeffrey D: 3 articles (01/2014 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Multiple Hereditary Exostoses:

1.	Carbon MonoxideIBA 07/01/1999 - "In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. " 09/26/1963 - "[STUDIES ON FAMILIAL CO-OCCURRENCE OF MULTIPLE CARTILAGINOUS EXOSTOSES]." 01/01/2008 - "The existence of exostosis and shortening of metacarpal bones has been described in the literature as part of the hereditary multiple exostosis syndrome but no case has been reported with the co-existence of sesamoid ossicles in the same patient. " 06/15/2010 - "HS (heparan sulfate) is synthesized by HS co-polymerases encoded by the EXT1 and EXT2 genes (exostosin 1 and 2), which are known as causative genes for hereditary multiple exostoses, a dominantly inherited genetic disorder characterized by multiple cartilaginous tumours. " 10/24/2003 - "Heparan, the common unsulfated precursor of heparan sulfate (HS) and heparin, is synthesized on the glycosaminoglycan-protein linkage region tetrasaccharide GlcUA-Gal-Gal-Xyl attached to the respective core proteins presumably by HS co-polymerases encoded by EXT1 and EXT2, the genetic defects of which result in hereditary multiple exostoses in humans. "
2.	Heparitin Sulfate (Heparan Sulfate)IBA 02/01/2014 - "Mutations of EXT1 or EXT2 result in insufficient heparan sulfate biosynthesis, which facilitates chondrocyte proliferation, boosts abnormal bone growth of neighboring regions, causes multiple exostoses, and ultimately leads to possible malignant transformation. " 09/01/2013 - "Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses." 05/01/2013 - "Because perichondrium becomes deranged and interrupted by cartilaginous outgrowths in Hereditary Multiple Exostoses (HME), a pediatric disorder caused by EXT mutations and consequent heparan sulfate (HS) deficiency, we asked whether EXT genes and HS normally have roles in establishing its phenotype and function. " 05/01/2013 - "Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses." 03/29/2013 - "Mutant alleles of EXT1 or EXT2, two members of the EXT gene family, are causative agents in hereditary multiple exostoses, and their gene products function together as a polymerase in the biosynthesis of heparan sulfate. "
3.	EnzymesIBA 09/01/2013 - "The disease we discuss here is hereditary multiple exostoses (HME), a disorder caused by mutations in HS synthesizing enzymes EXT1 and EXT2, leading to HS deficiency. " 04/01/2014 - "In human, mutations in the HS synthetizing enzymes Ext1 and Ext2 induce the Multiple Osteochondroma syndrome, a skeletal disorder characterized by short stature and the formation of benign cartilage-capped tumors. " 02/01/2014 - "In human, mutations in the HS synthetizing enzymes Ext1 and Ext2 induce the Multiple Osteochondroma syndrome, a skeletal disorder characterized by short stature and the formation of benign cartilage-capped tumors. " 06/01/2015 - "Hereditary multiple exostoses patients carry heterozygous mutations in the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2, but studies suggest that EXT haploinsufficiency and ensuing partial HS deficiency are insufficient for exostosis formation. "
4.	Messenger RNA (mRNA)IBA 11/01/2010 - "A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas." 12/01/2007 - "Recently, several groups have carried out whole-genome association studies in European and European-origin populations and found novel type 2 diabetes-susceptibility genes, fat mass and obesity associated (FTO), solute carrier family 30 (zinc transporter), member 8 (SLC30A8), haematopoietically expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), which had not been in the list of functional candidates. "
5.	Insulin (Novolin)FDA Link 01/01/2014 - "We hypothesized that loss of function of EXT1 or EXT2 in subjects with hereditary multiple exostoses (HME) affects pancreatic insulin secretion capacity and development. " 12/01/2007 - "Recently, several groups have carried out whole-genome association studies in European and European-origin populations and found novel type 2 diabetes-susceptibility genes, fat mass and obesity associated (FTO), solute carrier family 30 (zinc transporter), member 8 (SLC30A8), haematopoietically expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), which had not been in the list of functional candidates. "
6.	CalciumIBA 06/30/1920 - "STUDIES ON CALCIUM AND MAGNESIUM METABOLISM IN DISEASE : II. CALCIUM AND MAGNESIUM METABOLISM IN MULTIPLE CARTILAGINOUS EXOSTOSIS." 02/01/1961 - "Hereditary multiple exostoses, pseudo-pseudohypoparathyroidism and other genetic defects of bone, calcium and phosphorus metabolism."
7.	Cyclin-Dependent Kinase Inhibitor p15IBA 12/01/2007 - "Recently, several groups have carried out whole-genome association studies in European and European-origin populations and found novel type 2 diabetes-susceptibility genes, fat mass and obesity associated (FTO), solute carrier family 30 (zinc transporter), member 8 (SLC30A8), haematopoietically expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), which had not been in the list of functional candidates. "
8.	MagnesiumIBA 06/30/1920 - "STUDIES ON CALCIUM AND MAGNESIUM METABOLISM IN DISEASE : II. CALCIUM AND MAGNESIUM METABOLISM IN MULTIPLE CARTILAGINOUS EXOSTOSIS."
9.	Carrier Proteins (Binding Protein)IBA 12/01/2007 - "Recently, several groups have carried out whole-genome association studies in European and European-origin populations and found novel type 2 diabetes-susceptibility genes, fat mass and obesity associated (FTO), solute carrier family 30 (zinc transporter), member 8 (SLC30A8), haematopoietically expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), which had not been in the list of functional candidates. "
10.	zinc-binding protein (zinc binding protein)IBA 12/01/2007 - "Recently, several groups have carried out whole-genome association studies in European and European-origin populations and found novel type 2 diabetes-susceptibility genes, fat mass and obesity associated (FTO), solute carrier family 30 (zinc transporter), member 8 (SLC30A8), haematopoietically expressed homeobox (HHEX), exostoses (multiple) 2 (EXT2), CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B) and insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), which had not been in the list of functional candidates. "

Therapies and Procedures

1.	Osteotomy 09/01/2007 - "In our patients with multiple cartilaginous exostoses, corrective osteotomy and/or lengthening of forearm bones was not beneficial. " 01/01/1990 - "A technique of supramalleolar osteotomy that is cosmetically better than a closing wedge osteotomy for correction of this condition is described in two patients with hereditary multiple exostoses. " 09/01/2014 - "Eccentric rotational acetabular osteotomy for osteoarthritis of the hip due to hereditary multiple exostosis: report of two cases." 12/01/2009 - "Although technically demanding, ulnar osteotomy and gradual lengthening by an external fixator provided promising results in the treatment of forearm deformities in children with multiple osteochondroma." 12/01/2009 - "Correction of forearm deformities in children with multiple osteochondroma, by corrective radial osteotomy and ulnar lengthening by distraction osteogenesis."
2.	External Fixators 12/01/2009 - "Although technically demanding, ulnar osteotomy and gradual lengthening by an external fixator provided promising results in the treatment of forearm deformities in children with multiple osteochondroma." 01/01/2014 - "We retrospectively reviewed the cases of four patients who had deformities of the forearm with radial head dislocation associated with multiple hereditary exostoses, and evaluated the radiologic and clinical results of excision of the osteochondromas from the distal ulna and gradual ulnar lengthening with an Ilizarov external fixator. "
3.	Ilizarov Technique 03/01/2013 - "The aim of this study is to evaluate the results of gradual ulnar correction and lengthening using the modified Ilizarov technique for the treatment of forearm deformities in patients with multiple cartilaginous exostoses. " 03/01/2013 - "Modified Ilizarov technique for the treatment of forearm deformities in multiple cartilaginous exostoses: case series and literature review." 01/01/1994 - "[Use of the Ilizarov method in treatment of forearm deformity due to multiple exostoses]."
4.	Distraction Osteogenesis 06/01/2011 - "Twelve children (3 boys, 9 girls; mean age 9.8 y) with multiple cartilaginous exostosis-induced ulnar shortening treated with fixator-controlled ulnar callotasis were evaluated retrospectively based on clinical and radiographic examinations preoperatively, after fixator removal, and at a follow-up investigation. " 09/01/2011 - "We are reporting the results of single-stage treatment for patients with forearm deformity and radial head luxation due to hereditary multiple exostosis using distraction osteogenesis. " 06/01/2011 - "Reconstruction of forearm deformity by distraction osteogenesis in children with relative shortening of the ulna due to multiple cartilaginous exostosis." 12/01/2009 - "Correction of forearm deformities in children with multiple osteochondroma, by corrective radial osteotomy and ulnar lengthening by distraction osteogenesis." 11/01/1993 - "The combination of radial osteotomy, excision of osteochondromas, and gradual ulnar lengthening by distraction osteogenesis improves forearm appearance and function in most patients with multiple hereditary exostoses."
5.	Decompression 08/01/1993 - "A rare case of cervical cord compression secondary to laminar exostosis (in an adolescent girl with diaphyseal aclasis) is described, which was treated by decompression, posterior stabilization by a Hartshill rectangle, and posterolateral facet fusion. " 08/01/1993 - "A new management approach to decompression, posterior stabilization, and fusion for cervical laminar exostosis with cord compression in a case of diaphyseal aclasis. " 07/01/2003 - "An 8-year-old girl with hereditary multiple exostosis was referred for possible thoracotomy and anterior decompression of a T4 osteochondroma thought to be causing an atypical "scoliosis." Further examination, review of the radiographs, and computed tomography scan showed a large L4 osteochondroma encroaching on the neural elements. " 04/01/2002 - "A patient with hereditary multiple exostoses and myelopathy caused by an exostosis originating from the posterior aspect of the T5 vertebral body was treated with a staged anterior decompression/corpectomy and posterior spinal fusion. "