These genes are located at 7q21.2 (chromosome 7 long arm), 7p13 (chromosome 7 short arm) and 3q25.2-q27 (chromosome 3 long arm) respectively. These lesions are further discussed in the Online Mendelian Inheritance in Man site – the reference numbers are OMIM 116860, OMIM 603284 and OMIM 603285 respectively. Variations
Cerebral cavernomas
Cavernous hemangiomas located in the brain or spinal cord are referred to as cerebral cavernomas or more usually as cerebral cavernous malformations (CCMs), and can be found in the white matter, but often abut the cerebral cortex. When they contact the cortex, they can represent a potential seizure focus for the patient. Unlike other cavernous hemangiomas, there is no tissue within the malformation and its borders are not encapsulated. Therefore, they can change in size and number over time. Liver cavernous hemangioma
Cavernous hemangiomas are erroneously called the most common benign tumors of the liver. Usually one malformation exists, but multiple lesions can occur in the left or right lobe of the liver in 40% of patients. Their sizes can range from a few millimeters to 20 centimetres. Those over 5 cm are often referred to as giant hemangiomas. These lesions are better classified as venous malformations. Eye cavernous hemangioma
In the eye, it is known as orbital cavernous hemangioma and is found in women more frequently than men, most commonly between the ages of 20–40. This neoplasm is usually located within the muscle cone, which is lateral to the optic nerve. It is not usually treated unless the patient is symptomatic.
Additional studies suggest that women and patients under the age of 40 are at higher risk of bleeding, but similar conducted studies did not reach the same conclusion. However, when cavernous hemangiomas are completely excised, there is very little risk of growth or rebleeding. In terms of life expectancy, not enough data has been collected on patients with this malformation in order to provide a representative statistical analysis. Epidemiology
The true incidence of cavernous hemangiomas is difficult to estimate because they are frequently misdiagnosed as other venous malformations. Cavernous hemangiomas of the brain and spinal cord (cerebral cavernous hemangiomas (malformations) (CCM)), can appear at all ages but usually occur in the third to fourth decade of a persons life with no sexual preference. In fact, CCM is present in 0.5% of the population. However, approximately 40% of those with malformations have symptoms. Asymptomatic individuals are usually individuals that developed the malformation sporadically, while symptomatic individuals usually have inherited the genetic mutation. The majority of diagnoses of CCM are in adults; however, 25% of cases of CCM are children. Approximately 5% of adults have liver hemangiomas in the United States, but most are asymptomatic. Liver hemangiomas usually occur between the ages of 30–50 and more commonly in women. Cases of infantile liver cavernomas are extremely rare. Cavernous hemangioma of the eye is more prevalent in women than men and between the ages of 20–40. Research
In the treatment of a brain cavernous hemangioma, neurosurgery is usually the treatment chosen.