Concomitant neurogenic and vascular thoracic outlet syndrome due to multiple exostoses

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

An update on the imaging of diaphyseal aclasis

et al. 2021

View full text Add to dashboard Cite

Thoracic Outlet Syndrome: A Comprehensive Review of Pathophysiology, Diagnosis, and Treatment

et al. 2019

View full text Add to dashboard Cite

Thoracic outlet syndrome, a group of diverse disorders, is a collection of symptoms in the shoulder and upper extremity area that results in pain, numbness, and tingling. Identification of thoracic outlet syndrome is complex and a thorough clinical examination in addition to appropriate clinical testing can aide in diagnosis. Practitioners must consider the pathology of thoracic outlet syndrome in their differential diagnosis for shoulder and upper extremity pain symptoms so that patients are directed appropriately to timely therapeutic interventions. Patients with a definitive etiology who have failed conservative management are ideal candidates for surgical correction. This manuscript will discuss thoracic outlet syndrome, occurrence, physical presentation, clinical implications, diagnosis, and management.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

hi@scite.ai

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Concomitant neurogenic and vascular thoracic outlet syndrome due to multiple exostoses

Cited by 5 publications

References 6 publications

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

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

An update on the imaging of diaphyseal aclasis

Thoracic Outlet Syndrome: A Comprehensive Review of Pathophysiology, Diagnosis, and Treatment

Contact Info

Product

Resources

About