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PHACE syndrome is a medical condition characterized by uncommon associations between birth defects of the brain, skin (large facial infantile hemangiomas), arteries, heart and eyes. "PHACE" is an acronym for the parts of the body the syndrome usually impacts: Posterior fossa abnormalities and other structural brain abnormalities.
Kasabach–Merritt syndrome (KMS), also known as hemangioma with thrombocytopenia, [1] is a rare disease, usually of infants, in which a vascular tumor leads to decreased platelet counts and sometimes other bleeding problems, [2] which can be life-threatening. [3] It is also known as hemangioma thrombocytopenia syndrome.
A hemangioma or haemangioma is a usually benign vascular tumor derived from blood vessel cell types. The most common form, seen in infants, is an infantile hemangioma , known colloquially as a "strawberry mark", most commonly presenting on the skin at birth or in the first weeks of life.
Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.
The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15–30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. [5] Multiple enchondromas may present in three disorders: Ollier disease, Maffucci syndrome, and metachondromatosis ...
An infantile hemangioma (IH), sometimes called a strawberry mark due to appearance, is a type of benign vascular tumor or anomaly that affects babies. [1] [2] Other names include capillary hemangioma, [6] "strawberry hemangioma", [7]: 593 strawberry birthmark [8] and strawberry nevus. [6] and formerly known as a cavernous hemangioma.
Infantile hemangioma is the most common vascular tumor. It is a benign tumor, which occurs in 4-5% of Caucasian infants, but rarely in dark skinned infants. [6] It occurs in 20% of low weight premature infants and 2.2 to 4.5 times more frequently in females. [7]
Retina angiomas - retinal capillary hemangiomas also known as retinal hemangioblastomas, occur most frequently in conjunction with von Hippel-Lindau (VHL) syndrome. These lesions are characterized by plump, but otherwise normal, retinal capillary endothelial cells with normal pericytes and basement membrane. [23]