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

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.

• Authors: Daniah Albokhari, Christopher R Bailey, Francis Hwang, Clifford R Weiss, Jonathan Forsberg, Nara Sobreira
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 191 Issue 6 Pg. 1570-1575 (06 2023) ISSN: 1552-4833 [Electronic] United States
• PMID: 36869625 (Publication Type: Case Reports)
• Copyright: © 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

Chemical References

• N-Acetylglucosaminyltransferases

Topics

• Humans
• Exostoses, Multiple Hereditary (diagnosis, genetics)
• N-Acetylglucosaminyltransferases (genetics)
• Mutation