Abstract
Hereditary multiple exostoses is a rare autosomal dominant pediatric disorder with an incidence of about 1:50000 characterized by multiple cartilage-capped bony protuberances, called osteochondromas or exostoses, projecting from the metaphyses of long bones. It is caused by loss of function mutations in exostosin-1 and exostosin-2 genes that encode glycosyltransferase enzymes involved in the synthesis of heparan sulfate which has fundamental role in extracellular matrix formation during bone development. It commonly presents with compressive symptoms due to bony overgrowth involving all bones except calvarium and rarely transformed into malignancy. No definite treatment is available, but careful screening of these exostoses with timely referral to respective surgeon prevents long term complications and improves quality of life.
 J Enam Med Col 2019; 9(1): 60-63
Highlights
Hereditary multiple exostoses (HME), known as osteochondromatosis, is a rare autosomal dominant pediatric disorder with an incidence of about 1:500001 affecting predominantly metaphysis of the long bones or the surface of flat bones. It is mainly caused by loss of function mutations in exostosin-1 (EXT1) and exostosin-2 (EXT2) genes located on chromosomes 8 and 11 respectively[2], that encode glycosyltransferase enzymes involved in the synthesis of heparan sulfate (HS)
We report a case of a 17-year-old boy who presented in endocrine outpatient department (OPD) with short stature and multiple hard protuberances from the long bones of extremities
No specific treatment is available for HME and treatment depends upon presentation of disease
Summary
MA Hannan[1], Md Rakibul Hasan[2], Sharmin Jahan[3], Md Shahed Morshed[4] Received: October 20, 2018 Accepted: December 20, 2018 doi: https://doi.org/10.3329/jemc.v9i1.39908
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