Coexistence of Ankylosing Spondylitis and Hereditary Multiple Exostoses:Coincidence or Association

Rostamian, Abdolrahman; Mazoochy, Hamed; Movassaghi, Shafieh; Mortazavi, Seyed Mohammad Javad; Sadeghzadeh, Elham; Shahbazi, Fatemeh

doi:10.5812/iranjradiol.4242

Cited by 2 publications

(3 citation statements)

References 8 publications

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“…It is hypothesized that loss of function of EXT1 or EXT2 in subjects with HME can affects pancreatic insulin secretion capacity and development (46). With only four cases of coexistence of HME and ankylosing spondylitis so far, it seems that either association of HME and ankylosing spondylitis could be a rare entity or a coincidence (47). The increase in the number of reported patients who have a coexistence of these two diseases might suggest that this association is stron- ger than a coincidence.…”

Section: Associate Disordersmentioning

confidence: 97%

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern

Beltrami

Ristori

Scoccianti

et al. 2016

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SummaryHereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying. Although MHE may be asymptomatic, a wide spectrum of clinical manifestations is found in paediatric patients with this disorder. Pain is experienced by the majority of patients, even restricted motion of the joint is often encountered. Sometimes exostoses can interfere with normal development of the growth plate, giving rise to limb deformities, low stature and scoliosis. Other many neurovascular and associated disorders can lead to surgery. The most feared complication is the malignant transformation of an existing osteochondroma into a secondary peripheral chondrosarcoma, during adulthood. The therapeutic approach to HME is substantially surgical, whereas the medical one is still at an experimental level. In conclusion, HME is a complex disease where the paediatrician, the geneticist and the orthopaedic surgeon play an interchangeable role in diagnosis, research and therapy. We are waiting for new studies able to explain better the role of HS in signal transduction, because it plays a role in other bone and cartilage diseases (in particular malignant degeneration) as well as in skeletal embryology.

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Section: Associate Disordersmentioning

confidence: 97%

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern

Beltrami

Ristori

Scoccianti

et al. 2016

ccmbm

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“…Other manifestations described in individuals with HME, which could be rare features of the disease, include abnormal scarring and poor wound healing (Hosalkar et al, 2007), ankylosing spondylitis reported in four individuals (Rostamian et al, 2014), and autism and intellectual disability reported in two unrelated individuals (Li et al, 2002). However, none of the reported patients with these features underwent a comprehensive genetic diagnostic evaluation to rule out the coincidental association of a second genetic diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Limited bone involvement differentiates HME from other syndromes. However, few studies have reported the coexistence of HME with other non‐bone‐related features, such as poor wound healing, ankylosing spondylitis, learning disabilities, and autism (Hosalkar et al, 2007; Li et al, 2002; Rostamian et al, 2014). Here, we present two unrelated probands with typical radiological features of HME and pathogenic variants in EXT1 as well as vascular malformation, a clinical feature not previously described in individuals with HME.…”

Section: Introductionmentioning

confidence: 99%

Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands

Albokhari

Bailey

Hwang

et al. 2023

American J of Med Genetics Pt A

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Hereditary multiple exostoses (HME), also known as hereditary multiple osteochondroma (HMO), is an autosomal dominant disorder caused by pathogenic variants in exostosin‐1 or ‐2 (EXT1 or EXT2). It is characterized by the formation of multiple benign growing osteochondromas (exostoses) that most commonly affect the long bones; however, it may also occur throughout the body. Although many of these lesions are clinically asymptomatic, some can lead to chronic pain and skeletal deformities and interfere with adjacent neurovascular structures. Here, we report two unrelated probands that presented with a clinical and molecular diagnosis of HME with venous malformation, a clinical feature not previously reported in individuals with HME.

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Coexistence of Ankylosing Spondylitis and Hereditary Multiple Exostoses:Coincidence or Association

Cited by 2 publications

References 8 publications

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern

Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands

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