Medical Treatment of Vascular Anomalies

DeMaio, Alexa; New, Christina; Bergmann, Shayla

doi:10.1016/j.det.2022.06.013

Cited by 3 publications

(1 citation statement)

References 76 publications

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“…Personalized pharmacological treatment is now considered, which can help prevent recurrence. Rapamycin is currently being investigated for the treatment of various vascular malformations associated with hyperactivation of the phosphoinositide 3‐kinase/protein kinase B/mammalian target of rapamycin pathway (Adams & Ricci, 2019; DeMaio et al, 2022; Paolacci et al, 2020).…”

Section: Discussionmentioning

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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Section: Discussionmentioning

confidence: 99%