A Young Boy with Multiple Bony Overgrowths
Journal Title: Journal of Enam Meical College - Year 2019, Vol 9, Issue 1
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 defnite treatment is available, but careful screening of these exostoses with timely referral to respective surgeon prevents long term complications and improves quality of life.
Authors and Affiliations
MA Hannan, Md Rakibul Hasan, Sharmin Jahan, Md Shahed Morshed
Keywords
Related Articles
- EP ID EP36329
- DOI https://doi.org/10.3329/jemc.v9i1.39908
- Views 318
- Downloads 0
Infantile Colic: The Mysterious Crying
Infantile colic is a distressing condition in infants, pathogenesis of which is still not clear. Several treatment strategies have been attempted before, but only some of them proven successful. The aim of this paper i...
Association of Streptococcus with Plaque Type of Psoriasis
Background: Guttate psoriasis has a well-known association with streptococcal throat infections, but the effects of these infections in patients with chronic plaque type of psoriasis remains to be evaluated. In Banglades...
Outcome of Childhood Acute Lymphoblastic Leukaemia after Induction Therapy --- Three-Year Experience in a Tertiary Care Hospital in Bangladesh
Background: The incidence of different malignancies is increasing among the world populations. Acute lymphoblastic leukaemia (ALL) is the most common of all the paediatric malignancies. Response to induction therapy is...
Fingerprint: A Unique and Reliable Method for Identification
Fingerprints have been the gold standard for personal identification within the forensic community for more than one hundred years. It is still universal in spite of discovery of DNA fingerprint. The science of fingerp...
Facts about Magnesium Sulfate: Time to Revise the Safety Concern in Obstetric Use
Magnesium sulfate (MgSO4) is the agent most commonly used for treatment of eclampsia and prevention of eclampsia in patients with severe pre-eclampsia. Another commonly practiced offlabel use of this drug is in preventi...