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Diagnosis is generally made by magnetic resonance imaging (MRI), particularly using a specific imaging technique known as a gradient-echo sequence MRI, which can unmask small or punctate lesions that may otherwise remain undetected. These lesions are also more conspicuous on FLAIR imaging compared to standard T2 weighing. FLAIR imaging is different from gradient sequences. Rather, it is similar to T2 weighing but suppresses free-flowing fluid signal. Sometimes quiescent CCMs can be revealed as incidental findings during MRI exams ordered for other reasons. Many cavernous hemangiomas are detected "accidentally" during MRIs searching for other pathologies. These "incidentalomas" are generally asymptomatic. In the case of hemorrhage, however, a CT scan is more efficient at showing new blood than an MRI, and when brain hemorrhage is suspected, a CT scan may be ordered first, followed by an MRI to confirm the type of lesion that has bled.
Sometimes the lesion appearance imaged by MRI remains inconclusive. Consequently neurosurgeons will order a cerebral angiogram or magnetic resonance angiogram (MRA). Since CCMs are low flow lesions (they are hooked into the venous side of the circulatory system), they will be angiographically occult (invisible). If a lesion is discernible via angiogram in the same location as in the MRI, then an arteriovenous malformation (AVM) becomes the primary concern.
Gradient-Echo T2WI magnetic resonance imaging (MRI) is most sensitive method for diagnosing cavernous hemangiomas. MRI is such a powerful tool for diagnosis, it has led to an increase in diagnosis of cavernous hemangiomas since the technology's advent in the 1980s. The radiographic appearance is most commonly described as "popcorn" or "mulberry"-shaped. Computed tomography (CT) scanning is not a sensitive or specific method for diagnosing cavernous hemangiomas. Angiography is typically not necessary, unless it is required to rule out other diagnoses. Additionally, biopsies can be obtained from tumor tissue for examination under a microscope. It is essential to diagnose cavernous hemangioma because treatments for this benign tumor are less aggressive than that of cancerous tumors, such as angiosarcoma. However, since MRI appearance is practically pathognomonic, biopsy is rarely needed for verification.
Spider angiomas are asymptomatic and usually resolve spontaneously. This is common in the case of children, although they may take several years to disappear. If the spider angiomas are associated with pregnancy, they may resolve after childbirth. In women taking oral contraceptives, they may resolve after stopping these contraceptives. The spider angiomas associated with liver disease may resolve when liver function increases or when a liver transplant is performed.
For spider angiomas on the face, techniques such as electrodesiccation and laser treatment can be used to remove the lesion. There is a small risk of a scar, although the results are generally good. Spider angiomas can recur after treatment.
In the treatment of a brain cavernous hemangioma, neurosurgery is usually the treatment chosen. Research needs to be conducted on the efficacy of treatment with stereotactic radiation therapy, especially on the long-term. However, radiotherapy is still being studied as a form of treatment if neurosurgery is too dangerous due the location of the cavernoma. Genetic researchers are still working on determining the cause of the illness and the mechanism behind blood vessel formation. Clinical trials are being conducted to better assess when it is appropriate to treat a patient with this malformation and with what treatment method. Additionally, long term studies are being conducted because there is no information related to the long-term outlook of patients with cavernoma. A registry exists known as The International Cavernous Angioma Patient Registry collects information from patients diagnosed with cavernoma in order to facilitate discovery of non-invasive treatments.
Given the anatomic site, a spindle cell lipoma, nuchal-type fibroma and fibromatosis colli are all included in the differential diagnosis.
Simple excision is the treatment of choice, although given the large size, bleeding into the space can be a potential complication. Isolated recurrences may be seen, but there is no malignant potential.
In most patients, the number and size of cherry angiomas increases with advancing age. They are harmless, having no relation to cancer at all.
Littoral cell angiomas show in CT scans. They are diagnosed by pathologists by taking a sample of the tumour via Fine Needle Aspiration or Core Needle Aspiration or from a splenectomy. Histologically, they have anastoming small vascular channels and cystic spaces with papillary projections.
These lesions generally do not require treatment. If they are cosmetically unappealing or are subject to bleeding angiomas may be removed by electrocautery, a process of destroying the tissue by use of a small probe with an electric current running through it. Removal may cause scarring. More recently pulsed dye laser or intense pulsed light (IPL) treatment has also been used.
Future treatment based on a locally acting inhibitor of MEK1 and Cyclin E1 could possibly be an option. A natural MEK1 inhibitor is myricetin
The incidence in the general population is roughly 0.5%, and clinical symptoms typically appear between 20 to 30 years of age. Once thought to be strictly congenital, these vascular lesions have been found to occur "de novo". It may appear either sporadically or exhibit autosomal dominant inheritance.
A spider angioma (also known as a nevus araneus, spider nevus, vascular spider, and spider telangiectasia) is a type of telangiectasis (swollen blood vessels) found slightly beneath the skin surface, often containing a central red spot and reddish extensions which radiate outwards like a spider's web. They are common and may be benign, presenting in around 10–15% of healthy adults and young children. However, having more than three spider angiomas is likely to be abnormal and may be a sign of liver disease. It also suggests the probability of esophageal varices.
Cavernous venous malformations present as rounded, bright red or deep purple, spongy nodules, occurring chiefly on the head and neck and may involve both the skin and the mucous membranes.
It can be associated with "KRIT1", "CCM2" or "PDCD10".
A tufted angioma (also known as an "Acquired tufted angioma," "Angioblastoma," "Angioblastoma of Nakagawa," "Hypertrophic hemangioma," "Progressive capillary hemangioma," and "Tufted hemangioma") usually develops in infancy or early childhood on the neck and upper trunk, and is an ill-defined, dull red macule with a mottled appearance, varying from 2 to 5 cm in diameter.
LCAs most often are not clinically detectable. On occasion, their first presentation may be with splenic rupture.
Most patients show no symptoms and the tumours are found incidentally.
DVA can be diagnosed through the Cerebral venous sinus thrombosis with collateral drainage. DVA can also be found diagnosed with Sturge–Weber syndrome and can be found through leptomeningeal angiomatosis. Demyelinating disease has also been found to enlarge Medulla veins.
Superficial lymphatic malformation (also known as "Lymphangioma circumscriptum") is a congenital malformation of the superficial lymphatics, presenting as groups of deep-seated, vesicle-like papules resembling frog spawn, at birth or shortly thereafter.
A Cystic lymphatic malformation is a deep-seated, typically multilocular, ill-defined soft-tissue mass that is painless and covered by normal skin. These malformations may further be divided into macrocystic lymphatic malformations and microcystic lymphatic malformations.
A developmental venous anomaly (DVA, formerly known as venous angioma) is a congenital variant of the cerebral venous drainage. On imaging it is seen as a number of small deep parenchymal veins converging toward a larger collecting vein.
The surgical treatment involves the resection of the extracranial venous package and ligation of the emissary communicating vein. In some cases of SP, surgical excision is performed for cosmetic reasons. The endovascular technique has been described by transvenous approach combined with direct puncture and the recently endovascular embolization with Onyx.
Intravascular papillary endothelial hyperplasia (also known as "Masson's hemangio-endotheliome vegetant intravasculaire," "Masson's lesion," "Masson's pseudoangiosarcoma," "Masson's tumor," and "Papillary endothelial hyperplasia") is a rare, benign tumor. It may mimic an angiosarcoma, with lesions that are red or purplish 5-mm to 5-cm papules and deep nodules on the head, neck, or upper extremities.
Chondroid lipomas are deep-seated, firm, yellow tumors that characteristically occur on the legs of women. They exhibit a characteristic translocation t(11;16) with a resulting C11orf95-MKL2 fusion oncogene.
A skin biopsy can be performed to test for EAC; tests should be performed to rule out other possible diseases such as: pityriasis rosea, tinea corporis, psoriasis, nummular eczema, atopic dermatitis, drug reaction, erythema migrans and other rashes.
CT and MRI are most often used to identify intracranial abnormalities. When a child is born with a facial cutaneous vascular malformation covering a portion of the upper or the lower eyelids, imaging should be performed to screen for intracranial leptomeningeal angiomatosis. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region
Spiradenoma, also spiroma or eccrine spiradenoma, is a cutaneous condition that is typically characterized, clinically, as a solitary, deep-seated dermal nodule of approximately one centimeter, occurring on the ventral surface of the body. Spiradenoma lesions are benign sudoriferous tumors, and have also been described as cystic epitheliomas of the sweat glands.
The histological origin is controversial.
Blue nevi may be divided into the following types:
- A "patch blue nevus" (also known as an "acquired dermal melanocytosis", and "dermal melanocyte hamartoma") is a cutaneous condition characterized by a diffusely gray-blue area that may have superimposed darker macules.
- A "blue nevus of Jadassohn–Tièche" (also known as a "common blue nevus", and "nevus ceruleus") is a cutaneous condition characterized by a steel-blue papule or nodule.
- A "cellular blue nevus" is a cutaneous condition characterized by large, firm, blue or blue-black nodules.
- An "epithelioid blue nevus" is a cutaneous condition most commonly seen in patients with the Carney complex.
- A "deep penetrating nevus" is a type of benign melanocytic skin tumor characterized, as its name suggests, by penetration into the deep dermis and/or subcutis. Smudged chromatic is a typical finding. In some cases mitotic figures or atypical melanocytic cytology are seen, potentially mimicking a malignant melanoma. Evaluation by an expert skin pathologist is advisable in some cases to help differentiate from invasive melanoma.
- An "amelanotic blue nevus" (also known as a "hypomelanotic blue nevus") is a cutaneous condition characterized by mild atypia and pleomorphism.
- A "malignant blue nevus" is a cutaneous condition characterized by a sheet-like growth pattern, mitoses, necrosis, and cellular atypia.