BLUE RUBBER BLEB NEVUS SYNDROME
This may occur as an autosomal dominant trait but is usually sporadic and of unknown etiology. Multiple vascular nipple-like lesions occur, especially on the trunk and upper arms and mucous membranes, and intestinal, hepatic, and pulmonary angiomas may develop (Dobru et al. 2004). Bleeding from these lesions can lead to anemia (Fukhro et al. 2002). Central nervous system (CNS) hemangioma and cerebellar medulloblastoma may also occur (Satya- Murti et al. 1986; Kim 2000). It has been suggested that this syndrome is a variant of familial (autosomal dominant) venous malformations which has been mapped to chromosome 9p by linkage studies in two large kindreds (Gallione et al. 1995), and germline mutations in the endothelial cell-specific receptor tyrosine kinase gene TIE2 (TEK) have been detected in some families; somatic mutations in the same gene can be demonstrated in sporadic cases (Nobuhara et al. 2006; Limaye et al. 2009).