The authors describe a case of a 31-year-old female with tuberous sclerosis, a genetic, rare, variably expressed disease. Clinical symptoms were chest pain, and progressive dyspnea. Computed tomography scan of the chest showed bilateral, diffuse, small thin-walled cysts scattered throughout the lungs characteristic for pulmonary lymphangioleiomyomatosis. Computed tomography scan of the abdomen ...

Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...

Tuberous sclerosis complex Syndrome (TSCs) is an autosomal dominant disorder affecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumours affecting different body systems. The most common visible manifestations of TSC are facial angiofibromas and the formation of hamartomas in ...

Classical angiomyolipomas are benign tumours composed of various tissues, including components of fat, abnormal blood vessels and smooth muscle cells. They are often found in association with tuberous sclerosis complex (TSC). The present study reports a male patient affected by TSC with intermittent, massive chylous pleural effusions, who developed recurrent mediastinal angiomyolipomas. The tum...

Onychogryphosis is an acquired nail plate change. It often affects the toenail and is characterized by an opaque, yellow-brownish nail plate that is distorted, grossly thickened, elongated, and partly curved resembling a ram's horn. Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or seizure...

A 59 year old woman presented with a three year history of left sided weakness. Magnetic resonance imaging of the brain showed a large high signal lesion occupying most of the right temporal lobe with mass effect. A probable diagnosis of low grade glioma led to temporal lobectomy. Histology revealed dysplastic cortical morphology typical of tuberous sclerosis. There were no clinical signs or fa...

Renal AML complicating tuberous sclerosis shows a rapid growth and its rupture is frequently associated with hemorrhagic shock as a result of profuse retroperitoneal bleeding, necessitating an aggressive therapeutic approach. This report describes the long-term clinical progress of 28 year-old woman with tuberous sclerosis with a ruptured giant AML that underwent unilateral nephrectomy, who has...

The forehead plaque can be the earliest skin manifestation of tuberous sclerosis and its presence may lead to early diagnosis and appropriate genetic counselling.

Background: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of benign tumors in multiple organs and tissues, especially brain, kidneys, heart, lungs, skin. Brain lesions are frequently associated with cognitive deficits, neuropsychiatric disorders, learning disabilities, seizures. Seizures occur approximately 80% patients 30% to 60% them had West Syndrome...

Seizures or epilepsy are common manifestations of tuberous sclerosis. Some 80-90% of individuals with TS have seizure activity during their lifetime, often with onset in childhood. Fortunately, many children and adults with TS have seizure activity that is controlled by medication. After 1-2 years of being seizure free, it is often possible to decrease the use of medications and continue to be ...