Blue Rubber Bleb Nevus Syndrome

Multiple cutaneous and noncutaneous (mainly gastrointestinal tract) venous malformations, which can result in discomfort and hemorrhage.

Bean Syndrome.

Unknown, but extremely rare. Men and women are equally affected. Occurs in all races, although caucasians seem to be more frequently affected.

Most cases are sporadic, but autosomal dominant inheritance has been described.

Hemangiomas typically occur on the trunk, upper extremities, perineum, and in the gastrointestinal tract (from mouth to anus), but they can principally occur everywhere in the body (oral cavity hemangiomas may occur in up to 60% of patients). They are associated with nocturnal pain and hyperhydrosis in the affected skin areas.

The rubber-like hemangiomas may be tender but usually are easily compressible and refill promptly after compression. They are highly variable in size (from a few millimeters to many centimeters), color (from red to black), morphology (from flat to elevated to pedunculated nodules), and number (from a few to hundreds). Bleeding from the skin lesions is rare in the absence of trauma; however, anemia (iron deficiency anemia) and death as a result of gastrointestinal bleeding may occur, although most commonly the bleeding is slow, chronic, and occult. Intussusception, volvulus, and bowel infarction have been described. Lesions involving the bones and joints are less common, but can cause profound discomfort and deformity, loss of function, and spontaneous fractures. Central nervous system involvement (seizures, ataxia, dementia), although rare, can be fatal (hemorrhage). Cerebellar medulloblastoma has been associated with this syndrome. Pregnancy seems to have the potential to exacerbate bleeding from gastrointestinal lesions.

Check hemoglobin. Assess extremities for hemangiomas prior to obtaining intravascular access or performing peripheral regional anesthesia and evaluate the airway for presence of hemangiomas that may obstruct the view or bleed during airway management.

Anticipate the need for transfusion. Perform gentle direct laryngoscopy and tracheal intubation, especially in the presence of oral hemangiomas. Avoid esophageal instrumentation (nasogastric or orogastric tubes) in the presence of gastrointestinal hemangiomas.

No known pharmacological implications.

Klippel-Trènaunay Syndrome: Form of vascular malformation with congenital aplasia and/or dysplasia of specific parts of the vascular system in association with bony and soft tissue hypertrophy.

Maffucci Syndrome: Congenital disorder characterized by dyschondroplasia of one or more limbs, multiple enchondromas, and soft tissue hemangiomas.

Venous Lakes: Lesions present as dark blue to violaceous, easily compressible papules caused by ectasia of venules. They predominantly occur on chronically sun-exposed skin (most often located on the ears or lips of elderly patients). The lesions are harmless and have no clinical significance; however, they play an important role in the differential diagnosis of more severe lesions with a potentially similar aspect (melanoma, basalioma, or squamous cell carcinoma), as thrombosis is frequently present in these lesions.