• Tuberculosis and Respiratory Diseases
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• v.39 no.5
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• pp.433-437
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• 1992

Tuberous sclerosis is a syndrome characterized by the facial skin lesion, epilepsy, and mental retardation. Pulmonary involvement is uncommon, but when the lung is involved by tuberous sclerosis it shows characteristic reticulonodular infiltration and cystic changes. We experienced a 34-year-old female patient of known tuberous sclerosis admitted due to pneumothorax. Chest PA showed diffuse fine reticulonodular infiltration and chest CT revealed diffuse cystic changes of the lung. Pleurodesis with tetracycline was done to prevent recurrence, but chylothorax occurred four months after the treatment. Pleurosis was tried again and anti estrogen treatment began.

• Journal of Yeungnam Medical Science
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• v.11 no.2
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• pp.221-229
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• 1994

Tuberous sclerosis is reported rarely and is associated with systemic lesions including central nervous system, skin, heart, eye and kidney. Approximately 5-15% of individuals with tuberous sclerosis will develope brain neoplasia, almost invariably subependymal giant-cell astrocytoma (SGCA). We experienced a case of SGCA with tuberous sclerosis operated by the transcallosal approach and report with literature review.

• Tuberculosis and Respiratory Diseases
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• v.48 no.5
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• pp.788-793
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• 2000

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by mental retardation, epilepsy, and adenoma sebaceum. Pulmonary involvement is uncommon, but, when involved by tuberous sclerosis, it shows characteristic reticulonodular infiltration and cystic changes. Lymphangioleiomyomatosis is a rare disease of unknown cause that affects women of reproductive age. It is characterized by progressive proliferation of smooth muscle in the lung. We experienced one case of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in a 26-year-old female patient. This case is reported with a brief review of the literature.

• Archives of Plastic Surgery
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• v.35 no.3
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• pp.341-344
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• 2008

Purpose: Tuberous sclerosis is an autosomal dominant multisystemic neurocutaneous syndrome characterized by the development of multiple hamartoma distributed through the body, skin, brain, heart, kidney, and lung. The classic triad is seizure, mental retardation, and facial angiofibroma. We experienced a case of a tuberous sclerosis associated with the facial lesion and multiple masses on scalp, forehead, and right lower extremity. Methods: This a 34-year-old male patient had subependymal giant cell astrocytoma in brain and multiple angiomyolipoma in both kidneys. Tangential excision with razor blade and dermabrasion were done on the centrofacial area. We excised other lesions and the mass on scalp was excised and covered with split thickness skin graft. Results: The histopathological finding revealed that the facial lesion was angiofibroma and the others were multiple fibroma. Conclusion: In our case of tuberous sclerosis, we chose the tangential excision to remove the large nodules of angiofibroma, and then dermabrasion was used to smooth the final contour. The patient appeared to have a good results from this treatment modality. But, tuberous sclerosis is an disease that needs long term follow-up to check up the recurrence of skin problem.

• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.766-770
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• 2008

Primary tumors of the heart are uncommon among pediatric patients. Rhabdomyoma is the most frequent cardiac tumor in infants and children, which is commonly associated with tuberous sclerosis. Tuberous sclerosis is a neurocutaneous syndrome affecting the brain, heart, skin, and other organs. Cardiac rhadomyomas are reported in 50-64% of infants with tuberous sclerosis. Tuberous sclerosis involves multiple locations in the atrium, ventricle and septum, and may induce mechanical obstruction of the outflow tract and heart failure depending on the location, number, size, and degree of invasion of tumors. Arrhythmias may also develop in infants with cardiac rhadomyomas, but only a few of these patients require prolonged anti-arrhythmic therapy because arrhythmia often disappears with spontaneous regression of the tumors, and the ultimate prognosis may be decided by the cerebral manifestations.

• Tuberculosis and Respiratory Diseases
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• v.44 no.5
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• pp.1184-1193
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• 1997

Lymphangioleiomyomatosis(LAM) is rare and essentially limited to women in the reproductive ages. A 39-year-old female was admitted due to progressive exertional dyspnea and intermittent productive cough. Chest PA showed marked hyperinflation of the lung associated with a diffuse reticulo-nodular pattern. High resolution CT scan of the thorax demonstrated that diffusely scattered thin-walled cysts were distributed throughout the bilateral lung fields. Abdominal CT scan showed variable sized multiple angiomyolipoma of both kidney. By open lung biopsy, she was diagnosed as pulmonary LAM associated with Tuberous sclerosis and renal Angiomyolipoma. We present the case and discuss the connection between pulmonary LAM and Tuberous sclerosis.

• Clinical and Experimental Pediatrics
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• v.46 no.9
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• pp.913-917
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• 2003

Cardiac rhabdomyomas are relatively uncommon and associated with tuberous sclerosis in 40-50% cases. We report a 10-month-old infant with tuberous sclerosis who presented with ventricular arrythmias and status epilepticus. There were hypopigmented macules on the body, periventricular calcifications, renal cyst and cardiac rabdomyomas just below the aortic valve. The patient required resection of left ventricular subaortic masses due to sustained arrythmia in spite of intravenous amiodarone therapy. The pathologic examination confirmed the diagnosis of rhabdomyoma. The patient had no more arrythmia during the 14 month follow up period. Although cardiac rhabdomyomas may spontaneously regress, surgery is often necessary and frequently resolves the underlying arrythmia.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.1 no.1
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• pp.33-36
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• 2005

Manifestations in tuberous sclerosis such as seizure, mental retardation, end-stage renal disease (ESRD), and heart problems present a number of challenges to the dentist and anesthesiologist. Lack of cooperation in addition to the severe medical condition makes dental treatment more difficult. General anesthesia is often required for mentally and physically handicapped patients undergoing extensive dental treatment. We experienced a case of dental treatment under general anesthesia in a 36-year-old male patient with tuberous sclerosis associated with ESRD and mental retardation. He was treated on an outpatient basis followed by hemodialysis without any complications.

• Tuberculosis and Respiratory Diseases
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• v.39 no.6
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• pp.542-547
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• 1992

Tuberous sclerosis is an autosomal dominant disorder characterized by mental retardation, epilepsy, and adenoma sebaceum. Associated lesions include retinal phacomata, shagreen patches, subungal fibromata, and benign visceral tumors such as pulmonary lymphangioleiomyomatosis. Lymphangioleiomyomatosis occurs exclusively in women, usually during the child-bearing years, and is characterized by proliferation of smooth muscle along the lymphatic vessels of the lung, thorax, abdomen. Proliferation of smooth muscle results in interstitial and obstructive lung disease, recurrent pneumothorax, and chylous pleural effusions. We saw two cases of pulmonary lymphangioleiomyomatosis associated with tuberous sclerosis in women of reproductive age. We report the cases with a brief review of the literatures.

• Clinical and Experimental Pediatrics
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• v.54 no.6
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• pp.241-245
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• 2011

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the mammalian target of rapamycin (mTOR) signaling cascade, and are key factors in the regulation of cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. The mTOR pathway represents a logical candidate for drug targeting, because mTOR regulates multiple cellular functions that may contribute to epileptogenesis, including protein synthesis, cell growth and proliferation, and synaptic plasticity. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.