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

Daniah Albokhari; Christopher R. Bailey; Francis Hwang; Clifford R. Weiss; Jonathan Forsberg; Nara Sobreira

doi:10.1002/ajmg.a.63158

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

Daniah Albokhari, Christopher R. Bailey, Francis Hwang, Clifford R. Weiss, Jonathan Forsberg, Nara Sobreira

School of Medicine

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English (US)
Pages (from-to)	1570-1575
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	191
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.a.63158
State	Published - Jun 2023

Keywords

EXT1
hereditary multiple exostoses
vascular malformation

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1002/ajmg.a.63158

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abstract = "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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AU - Hwang, Francis

AU - Weiss, Clifford R.

AU - Forsberg, Jonathan

AU - Sobreira, Nara

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

Abstract

Keywords

ASJC Scopus subject areas

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