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ANKYLOSING SPONDYLITIS SIMULTANEOUS TO HEREDITARY MULTIPLE EXOSTOSES – RELATED ETIOPATHOGENESIS OR MERELY A COINCIDENCE?

2019; Linguagem: Inglês

10.5151/sbr2019-025

2357-7282

CAUÊ JOSÉ PEDROSO PINHEIRO DA SILVA, LUISA MANFREDIN VILA, Andressa Caroline Kuzma, Julia Deitos, VICTOR VINICIUS UNFRIED DA LUZ, Júlia Natsumi Hashimoto, Lorena Vaz Meleiro Lopes, JACKSON DANRLEI BALBINOT, Lucas Thiesen Pientka, Ana Paula Adame, Márcio Augusto Nogueira,

Osteomyelitis and Bone Disorders Research

Only four cases of simultaneous Ankylosing Spondylitis (AS) and Hereditary Multiple Exostoses (HME) have been reported. AS is a chronic inflammatory disorder of the axial skeleton, affecting 7:100.000 people per year, associated with the HLA-B27 antigen. HME is an autosomal dominant disease, linked to the EXT1 and EXT2 genes, in which multiple exostoses grow on bone metaphysis through endochondral ossification. This condition can affect the growth plaque, causing deformity of the limbs, low stature and scoliosis, besides neurovascular complications. Its estimated prevalence is 1:50.000, and it’s more common and more limiting in males.