Primary intraosseous vascular malformation

Definition:

Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively described in sporadic cases. It has recently been reported that loss-of-function mutations in ELMO2 is causative for VMPI in different families.

References:

[1]. Arda Cetinkaya, et al. Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. Am J Hum Genet. 2016 Aug 4;99(2):299-317. [Content Brief]

[2]. Ibrahim Vargel, et al. Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder. Am J Med Genet. 2002 Apr 15;109(1):22-35. [Content Brief]

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