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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease tuberous sclerosis
Comorbidity C0018552|hamartomas
Sentences 4
PubMedID- 25390511 We present three unique cases of multifocal and bilateral retinal astrocytic hamartomas in patients with suspected tuberous sclerosis complex.
PubMedID- 22654497 It has been shown that hamartomas associated with tuberous sclerosis complex involving organs other than the eyes (kidney, brain, and skin) are highly angiogenic and may express vegf.3,8,9 as far as we know, there are no reports regarding vegf expression in the tumor of aggressive retinal astrocytoma, although the vitreous vegf concentration has been reported to be high in aggressive retinal astrocytoma (table 1).3 in the present study, we showed vegf expression in both retinal tumor and epiretinal membrane.
PubMedID- 26057258 Conclusion: retinal astrocytic hamartomas in association with tuberous sclerosis complex is considered to be a relatively stationary lesion that has little potential for aggressive behavior.
PubMedID- 26550497 Medical history was significant for tuberous sclerosis with retinal hamartomas, renal mass, mental retardation, complex partial epilepsy, quadriparesis, severe kyphoscoliosis, iron deficiency anemia, reflux esophagitis with esophageal ulcers, chronic gastritis, and multiple pulmonary nodules.

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