Central Annals of Orthopedics & Rheumatology Editorial *Corresponding author Hanan Tanuos, Department of Pediatrics, Rutgers New Jersey Medical School, USA, Email: tanuosha@ Hereditary Multiple Exostosis: njms.rutgers.edu Submitted: 06 October 2013 Accepted: 08 October 2013 A Pediatrician’s Perspective Published: 10 October 2013 Hanan Tanuos1* and Anthony Wassef2 Copyright © 2013 Tanuos 1Department of Pediatrics, Rutgers New Jersey Medical School, USA 2Cornell University, USA OPEN ACCESS EDITORIAL at least two osteochondromas are found with a positive family history and /or a Many orthopedics complaints come to the attention of the available if the exact mutation in the parent is known (9). primary care doctor. While there are common conditions that nd identified mutation (4). Prenatal diagnosis is are seen and managed by the primary care doctor, an astute Hereditary Multiple exostosis can cause boney abnormalities physician will discover the rare conditions. With a good history and physical exam, the physician can diagnose the patient exostosis can also cause malalignment, deformity, and short and refer appropriately. In this article, our focus will be on limbsthat can Shortened pose both limbs a functional have been and reported aesthetic with problem studies (6) showing These the rare disorder of Hereditary Multiple Exostosis (multiple decreased overall adult height in patients with Hereditary osteochondromatosis). and elbow can cause pain and limitation of movement of these joints.Multpile Males Exostosis, were found (6) Boneyto have growth more shoulderin the shoulder, exostosis kneethan 1814. It was later described by Guys in 1825 but it was Jaffe who Hereditary Multiple Exostosis was first described by Boer in with prevalence of about 1:50000 (1). It has been genetically females (11). These patients were also found to more likely carry finally gave it its unique characteristics (1). It is a rare disorder function,the EXT1 bodily mutation pain, (11). vitality It andwas emotional found that esteem patients (12). generally Females have a poor quality of life as related to physical function, social linked to 8q23-q24 (EXT1) and 11p11-p12(EXT2) (2). These isgenes also arean associationknown to be that tumor has been suppressor mapped genes. to chromosome EXT1 encodes 19p regards to emotional function. Children consistently rated bodily 748 amino acids and EXT2 encodes 718 amino acids (3). There painappeared and emotional to have a self lower esteem quality as a of common life compared problem to (12). males in cause an abnormality isolated to the bone tissue when mutated. (EXT3). EXT 1 gene is expressed in many tissues but appears to problems related to Hereditary Multiple Exostosis, one must not ignoreBesides the rare the but pain, serious limitation complications of movement associated and with cosmetic these This condition is inherited as autosomal dominant with both be due to spontaneous mutations. It appears that the clinical boney growths. manifestationsfemales and males of affected.the disease However, are depending up to 10-20% on ofthe cases genetic can mutation (1). Females tend to have an incomplete penetrance leading to a milder presentation. Mutations in these genes lead There is a risk varying between 0.9%-25% of malignant to abnormality in heparin sulfate polymerization with resultant the pelvis and shoulder girdle have the highest rate of malignant change in existing osteochondromas (13). Osteochondromas of changeMandibular estimated coronoid to be approximately process osteochondromas .2%-5% (11). can lead to metaphysicformation of of cartilage long bones capped although benign other tumors bones (4,5). such asTumors the spine, can be sessile or pedunculated. These tumors tend to occur along the in mouth opening (14). formation of a pseudo joint and ankylosis. This causes limitation pelvis and ribs can be affected. The distal femur, proximal tibia Claudication pain can arise when osteochondromas cause haveand fibula, more diseaseand humerus burden are than common other mutationssites for development (6). One study of demonstratedexostosis. It was less found bone that deformity patients withwith EXT1pedunculated mutation tumorstend to the popliteal artery have also been reported in children as well compared to sessile tumors (1). compression of the popliteal artery (15). Pseudo aneurysms of can present as chest pain with development of spontaneous Clinical presentation is variable with some patients presenting hemothoraxas adults requiring (18,19). surgical intervention (16,17). Rib exostosis Spine exostosis can cause spine compression and neurological theearly disorder in life and may other be foundin adulthood. in the newborn 96% of patients period areas part diagnosed of the differentialat the latest diagnosis in their secondfor a newborn decade ofwith life an (7). enlarged The first digit sign (8). of More common presentations are boney prominences noted by ofsequele. their patients Cervical had spine spine exostosis involvement can occur with in 7%compression. of patients Some with the patient or parent that are imaged. Diagnosis is made when Hereditary Multiple Exostosis. (20). In one study, as much as 27% were asymptomatic at the time of imaging (21). These patients Cite this article: Tanuos H, Wassef A (2013) Hereditary Multiple Exostosis: A Pediatrician’s Perspective. Ann Orthop Rheumatol 1(1): 1002. Tanuos (2013) Email: [email protected] Central patients who are not 7. Jä may require an MRI to evaluate the extent of compression of Relat Res. 2002; : 49-59. previously diagnosed with Hereditary Multiple Exostosis who al. Clinical outcome and genotype in patients with hereditary multiple developedthe spine (21). cervical There myelopathy. are reported Diagnosis cases of was made when the ger M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, et patient developed progressive gait abnormalities and imaging 8. exostoses.Weinzweig. J OrthopWhat Conditions Res. 2007; Should25: 1541-1551. be Considered in a child born surgery (22). Management of patients with Hereditary Multiple Exostosiswas done can(22). be Thechallenging. neurological In children defects thought were nothas torevised be taken by with gross enlargement of a digit. Plastic Surgery Secrets Plus, 2nd 9. regarding the growing skeleton. Surgical correction of deformity ed.;chapter 118-Congenital Anomalies and limb lengthening procedures done on an immature skeleton Zhu HY, Hu YL, Yang Y, Wu X, Zhu RF, Zhu XY, et al. Mutation analysis should be done with attention to the risk of reoccurrence and and prenatal diagnosis of EXT1 gene mutations in Chinese patients long term complications. Many patients tend to have multiple with multiple osteochondromas. Chin Med J (Engl). 2011; 124: 3054- 10. surgeries to alleviate pain, improve range of motion and to 3057. relieve nerve compression. Focus should be placed on decreasing Clement ND, Duckworth AD, Baker AD, Porter DE. Skeletal growth pain and maintaining function. patterns in hereditary multiple exostoses: a natural history. J Pediatr 11. Orthop B. 2012; 21: 150-154. multiple exostoses: probability of surgery and malignant change. J management. Using over the counter remedies and opiates has Clement ND, Ng CE, Porter DE. Shoulder exostoses in hereditary There is no identified management protocol for pain been the common modalities of pain control. A study has been 12. Shoulder Elbow Surg. 2011; 20: 290-294. done to evaluate the use of biphosphonates to provide pain relief in those patients in which pain control has been poor and Goud AL, de Lange J, Scholtes VA, Bulstra SK, Ham SJ. Pain, physical and social functioning, and quality of life in individuals with multiple hereditary exostoses in The Netherlands: a national cohort study. J a synthetic medication that hinders osteoclastic activity and BoneDarilek Joint S, Wicklund Surg Am. C,2012; Novy 94: D, 1013-1020. Scott A, Gambello M, Johnston D, et al. thereforeinterfering bone with resorption. regular daily It is activities used in other(8). Biphosphonates conditions such are as metabolic bones disease, osteoporosis, resistant hypercalcemia, 13. Hereditary multiple exostosis and pain. J Pediatr Orthop. 2005; 25: and metastatic bone disease (8). It does not have an indication 14. 369-376. pain and over the counter medication use with biphosphonate Ruiz LP, Lara JC. Craniomaxillofacial features in hereditary multiple for use in benign bone tumors. This study reported decrease 15. exostosis. J Craniofac Surg. 2012; 23: e336-338. infusions (8). Side effects and complications are being monitored. Etiological point mutations in the hereditary multiple exostoses gene Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G. EXT1: a functional analysis of heparan sulfate polymerase activity. Am Primary care physicians are commonly called upon to 16. J Hum Genet. 2001; 69: 55-66. yetidentify potentially uncommon debilitating conditions. chronic They conditionsare the first can medical aid in person early of the popliteal artery in a child with multiple hereditary exostosis: a Rangdal SS, Behera P, Bachhal V, Raj N, Sudesh P. Pseudoaneurysm diagnosisthat a patient and seesmanagement when a problem of patients. arises. Identifying Being aware the geneticof rare abnormality early can provide time for genetic counseling prior rare case report and literature review. J Pediatr Orthop B. 2013; 22: to future pregnancies. 17. 353-356. pseudoaneurysm rupture secondary to distal femoral osteochondroma ReC FEREN ES Vanhegan IS, Shehzad