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Although the causes of craniopharyngioma is unknown, it can occur in both children and adults, with a peak in incidence at 9 to 14 years of age. There are approximately 120 cases diagnosed each year in the United States in patients under the age of 19 years old. In fact, more than 50% of all patients with craniopharyngioma are under the age of 18 years. There is no clear association of the tumor with a particular gender or race. It is not really known what causes craniopharyngiomas, but they do not appear to "run in families" or to be directly inherited from the parents.
Many people of East Asian descent are prone to developing angle closure glaucoma due to shallower anterior chamber depths, with the majority of cases of glaucoma in this population consisting of some form of angle closure. Higher rates of glaucoma have also been reported for Inuit populations, compared to white populations, in Canada and Greenland.
No clear evidence indicates vitamin deficiencies cause glaucoma in humans. It follows, then, that oral vitamin supplementation is not a recommended treatment for glaucoma. Caffeine increases intraocular pressure in those with glaucoma, but does not appear to affect normal individuals.
In the United States, the incidence of primary congenital glaucoma is about one in 10,000 live births. Worldwide, the incidence ranges from a low of 1:22,000 in Northern Ireland to a high of 1:2,500 in Saudi Arabia and 1:1,250 in Romania. In about two-thirds of cases, it is bilateral. The distribution between males and females varies with geography. In North America and Europe it is more common in boys, whereas in Japan it is more common in girls.
- Congenital glaucoma
- Incidence: one in every 10000-15000 live births.
- Bilateral in up to 80% of cases.
- Most cases are sporadic (90%). However, in the remaining 10% there appears to be a strong familial component.
Hemangioblastomas can cause polycythemia due to ectopic production of erythropoietin as a paraneoplastic syndrome.
An iris cyst, or uveal cyst, is a small hollow structure either attached to the iris of the eye or floating free in the anterior chamber. An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. It is most commonly seen as secondary to inflammation in the eye, especially with canine glaucoma. They are most commonly seen in dogs. Golden Retrievers, Labrador Retrievers, and Boston Terriers are the most commonly affected breeds. Iris cysts also occur in cats and horses. The cysts are usually free floating in dogs, attached to the pupillary margin in cats, and present in the interior of the iris (especially blue irises) in horses.
Iris cysts usually cause no symptoms, but in large numbers they can cause glaucoma by obstructing the drainage angle of the eye. Golden Retrievers may have a higher rate of glaucoma associated with iris cysts.
Iris cysts need to be differentiated from iris melanoma, a tumor, by demonstrating their hollowness. A light directed at an iris cyst will cause it to transilluminate. Iris cysts can be collapsed if necessary by a veterinarian with a small needle carefully introduced into the anterior chamber. The cysts may also be destroyed by use of a semiconductor diode laser.
Craniopharyngiomas are usually successfully managed with a combination of adjuvant chemotherapy and neurosurgery. Recent research describes the rare occurrence of malignant transformations of these normally benign tumors. Malignant craniopharyngiomas can occur at any age, are slightly more common in females, and are usually of the adamantinomatous type.
The malignant transformations can take years to occur (although 1 in 5 of the diagnosed cases were de novo transformations), hence the need for lengthier follow up in patients diagnosed with the more common benign forms.
There was no link found between malignancy and initial chemo-radiotherapy treatment, and the overall survival rate was very poor with median survival being 6 months post diagnosis of malignancy.
Hamartomas, while generally benign, can cause problems due to their location. For example, when located on the skin, especially on the face or neck, they can be very disfiguring. Cases have been reported of hamartomas the size of a small orange. They may obstruct practically any organ in the body, such as the colon, eye, etc. They are particularly likely to cause major health issues when located in the hypothalamus, kidneys, lips, or spleen. They can be removed surgically if necessary, and are not likely to recur. Prognosis will depend upon the location and size of the lesion, as well as the overall health of the patient.
The outcome for hemangioblastoma is very good, if surgical extraction of the tumor can be achieved; excision is possible in most cases and permanent neurologic deficit is uncommon and can be avoided altogether if the tumor is diagnosed and treated early. Persons with VHL syndrome have a bleaker prognosis than those who have sporadic tumors since those with VHL syndrome usually have more than one lesion.
Scientists are studying different populations and relationships to try to learn more about the disease. They have found associations with different groups but it is not yet clear what the underlying factors are and how they affect different peoples around the world.
- Glaucoma patients. While PEX and glaucoma are believed to be related, there are cases of persons with PEX without glaucoma, and persons with glaucoma without PEX. Generally, a person with PEX is considered as having a risk of developing glaucoma, and vice versa. One study suggested that the PEX was present in 12% of glaucoma patients. Another found that PEX was present in 6% of an "open-angle glaucoma" group. Pseudoexfoliation syndrome is considered to be the most common of identifiable causes of glaucoma. If PEX is diagnosed without glaucoma, there is a high risk of a patient subsequently developing glaucoma.
- Country and region. Prevalence of PEX varies by geography. In Europe, differing levels of PEX were found; 5% in England, 6% in Norway, 4% in Germany, 1% in Greece, and 6% in France. One contrary report suggested that levels of PEX were higher among Greek people. One study of a county in Minnesota found that the prevalence of PEX was 25.9 cases per 100,000 people. It is reportedly high in northern European countries such as Norway, Sweden and Finland, as well as among the Sami people of northern Europe, and high among Arabic populations, but relatively rare among African Americans and Eskimos. In southern Africa, prevalence was found to be 19% of patients in a glaucoma clinic attending to persons of the Bantu tribes.
- Race. It varies considerably according to race.
- Gender. It affects women more than men. One report was that women were three times more likely than men to develop PEX.
- Age. Older persons are more likely to develop PEX. And persons younger than 50 are highly unlikely to have PEX. A study in Norway found that the prevalence of PEX of persons aged 50–59 was 0.4% while it was 7.9% for persons aged 80–89 years. If a person is going to develop PEX, the average age in which this will happen is between 69 and 75 years, according to the Norwegian study. A second corroborating report suggested that it happens primarily to people 70 and older. While older people are more likely to develop PEX, it is not seen as a "normal" part of aging.
- Other diseases. Sometimes PEX is associated with the development of medical problems other than merely glaucoma. There are conflicting reports about whether PEX is associated with problems of the heart or brain; one study suggested no correlations while other studies found statistical links with Alzheimer's disease, senile dementia, cerebral atrophy, chronic cerebral ischemia, stroke, transient ischemic attacks, heart disease, and hearing loss.
Lymphangiomas are rare, accounting for 4% of all vascular tumors in children. Although lymphangioma can become evident at any age, 50% are seen at birth, and 90% of lymphangiomas are evident by 2 years of age.
Primary juvenile glaucoma is glaucoma that develops due to ocular hypertension and is evident either at birth or within the first few years of life. It is caused due to abnormalities in the anterior chamber angle development that obstruct aqueous outflow in the absence of systemic anomalies or other ocular malformation.
Orbital dermoid cysts are benign which are typically found at the junction of sutures, most commonly at the fronto-zygomatic suture. Large deep orbital dermoid cysts can cause pressure effects on the muscles and optic nerve, leading to diplopia and loss of vision.
The prognosis for lymphangioma circumscriptum and cavernous lymphangioma is generally excellent. This condition is associated with minor bleeding, recurrent cellulitis, and lymph fluid leakage. Two cases of lymphangiosarcoma arising from lymphangioma circumscriptum have been reported; however, in both of the patients, the preexisting lesion was exposed to extensive radiation therapy.
In cystic hygroma, large cysts can cause dysphagia, respiratory problems, and serious infection if they involve the neck. Patients with cystic hygroma should receive cytogenetic analysis to determine if they have chromosomal abnormalities, and parents should receive genetic counseling because this condition can recur in subsequent pregnancies.
Complications after surgical removal of cystic hygroma include damage to the structures in the neck, infection, and return of the cystic hygroma.
Many CNS cysts form in the womb during the first few weeks of development as a result of congenital defects. In adults cysts may also form due to a head injury or trauma, resulting in necrotic tissues (dead tissue), and can sometimes be associated with cancerous tumors or infection in the brain. However, the underlying reasons for cyst formation are still unknown.
Cysts derived from CNS tissues are very common in America. They are a subtype of cerebrovascular diseases, which are the third leading cause of death in America. Generally, CNS cysts are present in all geographic regions, races, ages, and sexes. However, certain types of CNS cysts are more prevalent in certain types of individuals than others. Some examples of incidence rates in specific types of cysts include:
- Arachnoid cysts are more prevalent in males than females
- Colloid cysts are more prevalent in adults
- Dermoid cysts are more prevalent in children under 10 years of age
- Epidermoid cysts are more prevalent in middle-aged adults
10-year survival rates for mucinous tumors is excellent in the absence of invasion.
In the case of borderline tumors confined to the ovary and malignant tumors without invasion, the survival rates are 90% or greater. In invasive mucinous cystadenocarcinomas, the survival is approximately 30%
Considered part of the PTEN hamartoma tumor syndrome (PHTS), which also includes Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome, Cowden syndrome is a serious genetic disorder characterized by multiple hamartomas. Usually skin hamartomas exist, and commonly (in about 66% of cases) hamartoma of the thyroid gland exists. Additional growths can form in many parts of the body, especially in bones, CNS, the eyes, the genitourinary tract, the GI tract, and mucosa. The hamartomas themselves may cause symptoms or even death, but morbidity is more often associated with increased occurrence of malignancies, usually in the breast or thyroid.
The cause of pseudoexfoliation glaucoma is generally unknown.
PEX is generally believed to be a systemic disorder, possibly of the basement membrane of the eye. Researchers have noticed deposits of PEX material in various parts of the body, including in the skin, heart, lungs, liver, kidneys, and elsewhere. Nevertheless, what is puzzling is that PEX tends to happen in only one eye first, which scientists call "unilaterality", and in some cases, gradually afflicts the other eye, which is termed "bilaterality". According to this reasoning, if PEX were a systemic disorder, then both eyes should be affected at the same time, but they are not. There are contrasting reports about the extent and speed with which PEX moves from one eye to both eyes. According to one report, PEX develops in the second eye in 40% of cases. A contrasting report was that PEX can be found in both eyes in almost all situations if an electron microscope is used to examine the second eye, or if a biopsy of the conjunctiva was done, but that the extent of PEX is the second eye was much less than the first one. A different report suggested that two thirds of PEX patients had flakes in only one eye. In one long term study, patients with PEX in only one eye were studied, and it was found that over time, 13% progressed to having both eyes afflicted by PEX. Scientists believe that elevated levels of plasma homocysteine are a risk factor for cardiovascular disease, and two studies have found higher levels of plasma homocysteine in PEX patients, or elevated homocysteine concentrations in tear fluids produced by the eye.
There is speculation that PEX may be caused by oxidative damage and the presence of "free radicals", although the exact nature of how this might happen is still under study. Studies of PEX patients have found a decrease in the concentrations of ascorbic acid, increase in concentrations of malondialdehyde, and an increase in concentrations of 8-iso-prostaglandinF2a.
There is speculation that genetics may play a role in PEX. A predisposition to develop PEX later in life may be an inherited characteristic, according to one account. One report suggested the genetic component was "strong". One study performed in Iceland and Sweden has associated PEX with polymorphisms in gene LOXL1. A report suggested that a specific gene named LOXL1 which was a member of the family of enzymes which play a role in the linking of collagen and elastin inside cells. LOXL1 was responsible for "all the heritability" of PEX, according to one source. Two distinct mutations in which a single nucleotide was changed, or called a "single nucleotide polymorphism" or SNP, was discovered in Scandinavian populations and confirmed in other populations, and may be involved with the onset of PEX.
Researchers are investigating whether factors such as exposure to ultraviolet light, living in northern latitudes, or altitude influence the onset of PEX. One report suggested that climate was not a factor related to PEX. Another report suggested a possible link to sunlight as well as a possible autoimmune response, or possibly a virus.
Tumors in the eye and orbit can be benign like dermoid cysts, or malignant like rhabdomyosarcoma and retinoblastoma.
Terrier breeds are predisposed to lens luxation, and it is probably inherited in the Sealyham Terrier, Jack Russell Terrier, Wirehaired Fox Terrier, Rat Terrier, Teddy Roosevelt Terrier, Tibetan Terrier, Miniature Bull Terrier, Shar Pei, and Border Collie. The mode of inheritance in the Tibetan Terrier and Shar Pei is likely autosomal recessive. Labrador Retrievers and Australian Cattle Dogs are also predisposed.
Pancreatic serous cystadenoma, also known as serous cystadenoma of the pancreas and serous microcystic adenoma, a benign tumour of pancreas. It is usually found in the head of the pancreas, and may be associated with von Hippel-Lindau syndrome.
In contrast to some of the other cyst-forming tumors of the pancreas (such as the intraductal papillary mucinous neoplasm and the mucinous cystic neoplasm), serous cystic neoplasms are almost always entirely benign. There are some exceptions; rare case reports have described isolated malignant serous cystadenocarcinomas. In addition, serous cystic neoplasms slowly grow, and if they grow large enough they can press on adjacent organs and cause symptoms.
Over many years, glaucoma has been defined by an intraocular pressure of more than 20 or 20 mm Hg. Incompatible with this (now obsolete) definition of glaucoma was the ever larger number of cases that have been reported in medical literature in the 1980s and 1990s who had the typical signs of glaucomatous damage, like optic nerve head excavation and thinning of the retinal nerve fiber layer, while these patients had an IOP that would generally have been regarded as "normal". It is now widely estimated that a larger percentage of patients with primary open-angle glaucoma (POAG) are suffering from normal tension glaucoma: probably half of all POAG patients in Europe and the majority of POAG patients in East Asia. Among Americans of Japanese descent, for instance, the prevalence of NTG is about four times as high as the prevalence of the "classical glaucoma" with an IOP of 22 mm Hg and higher. The pillar of the current understanding of normal tension glaucoma is a reduced IOP tolerance of the retinal ganglion cells and the cells in the optic nerve head - an IOP of, for example, 17 or 19 mm Hg that would not affect a healthy eye leads to damage in the eye of an NTG patient.
Mucinous cystadenocarcinoma is a type of tumor in the cystadenocarcinoma grouping.
It can occur in the breast as well as in the ovary. Tumors are normally multilocular with various smooth, thin walled cysts. Within the cysts is found a haemorrhagic or cellular debris.
Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location. A partial dislocation of a lens is termed "lens subluxation" or "subluxated lens"; a complete dislocation of a lens is termed "lens luxation" or "luxated lens".