A case is reported of a 31-year-old Japanese woman who exhibited numerous cavernous hemangiomas characteristic of blue rubber bleb nevus over almost the entire body surface. Erectile or polypoid hemangiomas were also found on the visible oropharyngeal and anal mucosa, and radiological findings strongly suggested that similar tumors were distributed in the mucosa of the esophagus and were grouped on that of the distal ileum. Chronic iron-deficiency type of anemia was also detected. In addition, she exhibited multiple enchondromas in the bones of fingers and toes.
To the best of our knowledge, this is considered to be the first confirmed case of blue rubber bleb nevus in association with Maffucci's syndrome, also called Bean-Maffucci syndrome.
SAKURANE HF, SUGAI T, SAITO T. The Association of Blue Rubber Bleb Nevus and Maffucci's Syndrome. Arch Dermatol. 1967;95(1):28-36. doi:10.1001/archderm.1967.01600310034006