EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis

The Journal of Pathology
J V M G BovéeP C W Hogendoorn

Abstract

Dysplasia epiphysealis hemimelica (DEH) and metachondromatosis (MC) are considered in the differential diagnosis of solitary and hereditary osteochondromas. Both are rare disorders with DEH demonstrating cartilaginous overgrowth of an epiphysis and MC exhibiting synchronous enchondromas and osteochondromas. Ten cases of DEH and two of MC were compared with osteochondromas at the histological and molecular level. Histologically, clumping of chondrocytes within a fibrillary chondroid matrix is characteristic of DEH, while osteochondromas and MC display the characteristic growth plate architecture. Using cDNA microarray analysis we demonstrate that DEH and MC cluster separately from osteochondromas and growth plates. The EXT genes, involved in the hereditary multiple osteochondromas syndrome, and downregulated in osteochondroma, were normally expressed in DEH and MC as shown by quantitative reverse transcriptase-polymerase chain reaction (qPCR). EXT is involved in heparan sulphate biosynthesis, important for Indian Hedgehog/ParaThyroid Hormone Like Hormone (IHH/PTHLH) growth plate signalling pathways. IHH/PTHLH signalling molecules were expressed in DEH and MC as shown by both qPCR and immunohistochemistry, suggesting that this pa...Continue Reading

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Citations

Feb 15, 2008·Orphanet Journal of Rare Diseases·Judith V M G Bovée
Jan 20, 2016·European Journal of Radiology·Robert M KweeJan Fritz
Oct 9, 2012·Clinical Radiology·P A TylerA Saifuddin
Jan 17, 2014·Journal of Children's Orthopaedics·Thomas J FisherPeter J Cundy
Oct 16, 2016·Skeletal Radiology·Ruken Yuksekkaya CelıkyayDogan Koseoglu
Jun 16, 2009·Clinical Orthopaedics and Related Research·Mario PerlManfred Nelitz
Aug 25, 2009·Advances in Anatomic Pathology·Salvatore RomeoAngelo Paolo Dei Tos
Jun 3, 2010·The Journal of Bone and Joint Surgery. American Volume·Andreas F MavrogenisPanayiotis J Papagelopoulos
Apr 30, 2019·Case Reports in Radiology·Vincenzo GiordanoHilton Augusto Koch
Sep 1, 2020·JBJS Case Connector·Saurabh VashishtSudhir Kumar Garg
Aug 23, 2017·Journal of Children's Orthopaedics·J StevensH M Staal
Jan 9, 2015·The Journal of Bone and Joint Surgery. American Volume·Annemarie L GoudJohn Ham
Apr 27, 2021·Case Reports in Orthopedics·Shinsuke SatoTakumi Matsumoto

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