Blue Rubber Bleb Nevus

Clinical Features

Blue rubber bleb nevus is a bladderlike variety of hemangioma found particularly on the trunk and upper arms. Nocturnal pain and regional hyperhidrosis are features. Bleeding hemangiomas of the gastrointestinal tract are an important complication. Berlyne and Berlyne (1960) demonstrated transmission through 5 generations. Other cases have been sporadic, perhaps new dominant mutations.

Bean (1958) gave the name to this condition which, furthermore, he was mainly instrumental in delineating.

Rice and Fischer (1962) observed the association of cerebellar medulloblastoma. They illustrated the extraordinary appearance of the skin lesions. Intestinal hemangiomas were found at autopsy.

Fretzin and Potter (1965) described a particularly dramatic case with involvement of the skin and gastrointestinal tract and angiomatous gigantism of the right arm requiring amputation in infancy.

In a single case in a Japanese woman, Sakurane et al. (1967) described cavernous hemangiomas characteristic of blue rubber bleb nevi over the entire surface of the body and in the mucosa of the oropharynx, esophagus, distal ileum and anus. In addition the patient had multiple enchondromatosis. This, then, had many of the features of Maffucci syndrome (614569).

Munkvad (1983) reported a family with 7 affected persons in 3 generations, including father-to-son transmission. The skin lesions are rubberlike nipples, easily compressible and promptly refilling after compression. They vary in color, size, shape and number and may be tender. The affected persons in Munkvad's pedigree had no evidence of visceral abnormality.

Satya-Murti et al. (1986) described a 19-year-old man with extensive central nervous system involvement who had a chronic, slowly progressive, and nonfatal course.

See 600195 for a familial venous malformation syndrome (VMCM) that may be the same as the blue rubber bleb nevus syndrome of Bean (1958) and is caused by mutation in the TEK gene (600221). Gallione et al. (1995) suggested that VMCM is identical to the Bean syndrome. Several members of the family they studied had gastrointestinal bleeding from vascular lesions as did the family originally described by Bean (1958).

Ertem et al. (2001) described a 6-year-old boy with blue rubber bleb nevus syndrome who had multiple venous malformations all over his body. He also suffered from several episodes of melena, chronic anemia, and growth retardation. Endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations of various sizes.

Inheritance

Two families with affected persons in 3 and 5 successive generations, supporting autosomal dominant inheritance, were reported by Walshe et al. (1966).

Nomenclature

Although the lesions of blue rubber bleb nevus syndrome have often been termed 'angiomas' or 'hemangiomas' in the literature, histologically they are venous malformations. Mulliken and Young (1988) proposed a biologic classification system which divides vascular anomalies into hemangiomas, which are neoplastic lesions with endothelial hyperplasia, and vascular malformations, which are congenital lesions with normal epithelial turnover.