ReviewClinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern.
Review in Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 72 citations in OpenAlex.
- Chronic Pain as an Early Diagnostic Clue in Hereditary Multiple Exostoses: Two Pediatric Cases Highlighting Diagnostic Delay.Clinical case reports · 2026Article
- Resection of C3 osteochondroma in a 20-year-old male with the combination of virtual reality and 3D printing for preoperative planning: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Contralateral-Structure-Preserving Endoscopic Resection of Cervical Osteochondroma: A Technical Note.Journal of clinical medicine · 2026Article
- Hereditary Multiple Exostoses Presenting with Urinary Tract Obstruction Secondary to Imaging-Suspected Malignant Transformation: A Case Report.International medical case reports journal · 2026Article
- Differentiation of Pediatric Osteochondroma From Trevor's Disease and Successful Surgical Management: A Case Report.Case reports in orthopedics · 2026Article
- Current concepts in the management of proximal femoral osteochondromas: a narrative review.Journal of orthopaedic surgery and research · 2025Review
- Ulnar lengthening in the treatment of forearm deformity caused by hereditary multiple exostoses in children.World journal of orthopedics · 2025Review
- Solitary Osteochondroma in Uncommon Sites- A Rare Case Report.Journal of orthopaedic case reports · 2025Article
- Article
- Hsa_Circ_0008035 drives immune evasion of gastric cancer via promoting EXT1-mediated nuclear translocation of PKM2.Translational oncology · 2024Article
- Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis.Diseases (Basel, Switzerland) · 2024Article
- AEG-1 as a Novel Therapeutic Target in Colon Cancer: A Study from Silencing AEG-1 in BALB/c Mice to Large Data Analysis.Current gene therapy · 2024Article
- Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.Turkish archives of pediatrics · 2023Article
- Review
- Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family.Medicina (Kaunas, Lithuania) · 2022Article
- Review
- Premalignant Conditions of Bone.Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews · 2022Article
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.Journal of medical genetics · 2022Article
- Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.Molecular medicine reports · 2022Article
- Rapidly acquired valgus deformity of the knee after osteochondroma resection in multiple hereditary exostoses pediatric patients: A report of two cases.Radiology case reports · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying. Although MHE may be asymptomatic, a wide spectrum of clinical manifestations is found in paediatric patients with this disorder. Pain is experienced by the majority of patients, even restricted motion of the joint is often encountered. Sometimes exostoses can interfere with normal development of the growth plate, giving rise to limb deformities, low stature and scoliosis. Other many neurovascular and associated disorders can lead to surgery. The most feared complication is the malignant transformation of an existing osteochondroma into a secondary peripheral chondrosarcoma, during adulthood. The therapeutic approach to HME is substantially surgical, whereas the medical one is still at an experimental level. In conclusion, HME is a complex disease where the paediatrician, the geneticist and the orthopaedic surgeon play an interchangeable role in diagnosis, research and therapy. We are waiting for new studies able to explain better the role of HS in signal transduction, because it plays a role in other bone and cartilage diseases (in particular malignant degeneration) as well as in skeletal embryology.
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