• Archives of Plastic Surgery
• /
• v.51 no.4
• /
• pp.372-377
• /
• 2024

Angiofibromas are a common facial manifestation of tuberous sclerosis (TS). However, current treatments have proven ineffective due to high recurrence rates and noncompliance. To address this issue, we developed a new triple laser therapy protocol for more effective management of angiofibromas. We conducted tests to validate its efficacy. This is a prospective study of 10 patients with TS (4 women and 6 men, mean age 26.3 years [15-37 years]) with angiofibromata who received triple sequential laser therapy at our private dermatological clinic conducted from January 2000 to December 2022. We evaluated the outcome with the Facial Angiofibromata Severity Index (FASI) via clinical photography (0, 6 months, 1 year, and 2 years), and Dermatology Life Quality Index (DLQI). All patients had a successful recovery without any complications. Among these 10 patients, 4 experienced localized recurrences at their 6-month follow-up. These recurrences were treated with a second single carbon dioxide laser session. After 2 years of follow-up, we observed no recurring facial cutaneous manifestations. Furthermore, all patients experienced a decrease in their FASI score after treatment. According to the Visual Analogue Scale, patients reported 95% satisfaction, and DLQI indicated only a minor impact on their everyday lives. We believe that this protocol of three-step laser treatment is effective, safe, and compliable for patients with facial angiofibromata, providing a satisfactory outcome adaptable to the daily dermatological and plastic surgery practice.

• Journal of Chest Surgery
• /
• v.35 no.10
• /
• pp.745-749
• /
• 2002

Cardiac rhabdomyoma is a rare type of benign tumor affecting the heart. There are a few previous reports of intracardiac rhabdomyomas causing ventricular arrythmia. We describe a 1-year-old female tuberous sclerosis patient who was presented with a ventricular tachycardia. Diagnostic echocardiography revealed two masses in the left ventricular outflow tract originating from the ventricular septum. The masses were surgically resected through aortotomy using cardiopulmonary bypass and the masses appeared benign. The pathology was that of a cardiac rhabdomyomas. Postoperative course was uneventful and the ventricular tachycardia was controlled.

• Journal of Chest Surgery
• /
• v.42 no.6
• /
• pp.770-773
• /
• 2009

Rhabdomyoma has been reported to be the most common type of cardiac tumors in fetuses and children, and multiple cardiac rhabdomyomas almost certainly signify the association with tuberous sclerosis. We report here on a case of Tetralogy of Fallot (ToF) that was associated with multiple rhabdomyomas and tuberous sclerosis. A two-year-old boy, who had undergone systemic-pulmonary shunt during the neonatal period, received total correction of his ToF after the complete regression of the cardiac tumor. The postoperative course was uneventful, and he has been follow-up for 2 months. The boy is currently in an excellent condition.

• Journal of the Korean Child Neurology Society
• /
• v.26 no.4
• /
• pp.284-287
• /
• 2018

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutation of one of two genes, TSC1 (encoding hamartin, 9q34) and TSC2 (encoding tuberin, 16p13). It invades the central nervous system and various parts of the body, causing various symptoms. Crohn's disease (CD) is a chronic immune-mediated disease that has not been clearly elucidated. It is thought to be caused by an excessive immune response of the body to bacteria that normally exist in the digestive tract with genetic factors. No cases have been reported in which both of the above-mentioned diseases occurred simultaneously. We report a case of CD in a patient with TSC. A 12-year-old boy was brought to our hospital because of abdominal pain. Skin lesions were observed in the TSC. Fundus examination revealed a hamartoma in the right retina. Brain magnetic resonance imaging revealed a subendothelial giant cell astrocytoma (SEGA). On the basis of these findings, he was diagnosed as having TSC. Blood test results showed increased levels of inflammatory markers. On abdominal ultrasonography, his colon walls were observed to be thickened with increased vascularity of the proximal ascending colon, ileocecal valve, and terminal ileum. Colonoscopy revealed discontinuous ulcerations and inflammations of the ileum, IC valve, and cecum, similar to those found in CD. Everolimus was administered orally for the SEGA but was discontinued frequently owing to the exacerbation of CD. The possibility of CD should be kept in mind in patients with TSC considering to undergo treatment for SEGA.

• Journal of Chest Surgery
• /
• v.29 no.6
• /
• pp.655-659
• /
• 1996

Primary cardiac tumors are known to be rare. Of the benign primary tumors, rhabdomyoma predominates in neonates and infants. Tuberous sclerosis is found in hall of the patients with rhabdomyomas. Rhabdomyomas demonstrate benign pathological characteristics and may regress spontaneously that resection of the intracavitary obstructing portion of these tumors are recommended. We performed resection of intraatrial rhabdomyoma which had been obstructing mitral valve orifice and caused heart failure in a neonate. Postoperatively, fungal endocarditis developed and after 3 days, rapid growth and extension of the vegetation in the aorta obstructed the flow through the ascending aorta and resulted in hemodynamic deterioration.

• Journal of Korean Neurosurgical Society
• /
• v.29 no.4
• /
• pp.564-568
• /
• 2000

The authors present a rare case of subependymal giant cell astrocytoma which successfully treated with endoscopic tumor resection. A 15-year-old boy was presented with multiple episode of generalized seizure and intermittent headache for 5 years. The patient had facial adenoma sebaceum, multiple nevi on his back, and mental retardation. Cerebral MRI scans showed a round tumor located at the frontal horn of right ventricle near the foramen monro. The tumor was totally removed with endoscopic procedure and histologically confirmed as a subependymal giant cell astrocytoma. Subependymal giant cell astrocytomas can cause all the clinical problems that are associated with other types of intracranial tumor. However, surgical indication is not well standardized, because of the lack of basic knowledge about the tumor and the likelihood of surgical morbidity. We believe that endoscopic surgery, a minimally invasive technique, can circumvent the surgical disadvantage while achieving the surgical goal.

• Clinical and Experimental Pediatrics
• /
• v.50 no.2
• /
• pp.178-181
• /
• 2007

Purpose : The renal manifestations of tuberous sclerosis complex (TSC) are remarkably diverse, including polycystic kidney disease, simple renal cysts, renal cell carcinomas, and angiomyolipomas. All of these occur in children as well as adults in TSC. Angiomyolipomas, which can cause spontaneous life-threatening hemorrhages, are by far the most prevalent and the greatest source of morbidity. Here, we will address our experience, adding to the literature on pediatric patients with TSC requiring evaluation and treatment for renal manifestations. Methods : A retrospective analysis was made on 19 patients in whom TSC was diagnosed between May 2001 and Oct. 2005 at Severance Hospital. All patients had clinical diagnoses of TSC as defined by the 1998 tuberous sclerosis complex consensus conference. Results : The patients consisted of 13 boys and 6 girls with a mean age of 7.3 years (range 1 to 22). The renal disease associated with TSC included angiomyolipoma in nine patients (47.4 percent), renal simple cyst in one (5.3 percent), hydronephrosis in one (5.3 percent) patient. Eight patients (42.1 percent) presented with normal kidney contours at abdominal ultrasonography. One patient underwent renal replacement therapy due to chronic renal insufficiency after nephrectomy. Hemorrhage from angiomyolipoma was not detected. Conclusion : In our review of 19 cases of TSC, renal manifestations are reported in 57.9 percent of patients. Asymptomatic angiomyolipoma associated with TSC grow gradually, although severe hemorrhages are rare. So patients with TSC should be followed up with serial computerized tomography or abdominal ultrasonography. And also, renal function should be monitored conservatively.

• The Korean Journal of Cytopathology
• /
• v.5 no.1
• /
• pp.65-70
• /
• 1994

We describe a case of fine needle aspiration cytology of renal angiomyolipoma which was not associated with the clinical complex of tuberous sclerosis and was incidentally found. It was a solitary lesion and the clinical impression before needle aspiration was renal ceil carcinoma. The aspirated specimen showed mature fat cells, clusters of renal tubular epithelial cells and sheets of pleomorphic smooth muscle cells with fibrillary cytoplasm. The nuclei of smooth muscle celis varied in size and shape. Since the treatment of renal angiomyolipoma differs from that of renal ceil carcinoma, the preoperative cytological diagnosis is of great value.

• The Korean Journal of Medicine
• /
• v.99 no.1
• /
• pp.25-31
• /
• 2024

Lymphangioleiomyomatosis (LAM) is a rare condition that exclusively affects women and is characterized by lung parenchymal destruction and the formation of cysts due to infiltration by LAM cells. It can also impact the lymphatic system, leading to the development of fluid-filled cystic structures and abdominal involvement, including renal angiomyolipomas (AML) or lymphangioleiomyoma. LAM can occur sporadically or be associated with tuberous sclerosis complex. Common symptoms include respiratory issues such as dyspnea, pneumothorax, chylothorax, along with other manifestations like renal AML and lymphatic involvement. The diagnosis of LAM relies on a combination of clinical, radiological, and laboratory findings, and treatment options vary depending on symptoms and patient status, with mTOR inhibitors being considered as a treatment option. This case outlines the diagnostic journey and clinical course of a 32-year-old female patient with LAM.

• Tuberculosis and Respiratory Diseases
• /
• v.49 no.2
• /
• pp.246-252
• /
• 2000

Lymphangioleiomyomatosis(LAM) is a rare disease of unknown etiology that occurs mainly in woman in her reproductive age. We recently experienced two cases of bilateral diffuse cystic lesion of the lung on chest X-ray and HRCT. The first case, a 26-year-old female, who had been diagnosed with tuberous sclerosis by the presence of clinical manifestation such as mental retardation, bilateral renal angiomyolipoma, adenoma sebaceum and generalized seizure, was admitted due to a recently developed hemoptysis. Chest PA showed diffuse ground-glass opacity with radiolucent cystic lesions of various sizes on both lung fields. HRCT showed innumerable small cystic lesions with suspicious diffuse ground-glass opacity on both lung fields The second case, a 30-year-old fema1e was admitted due to dyspnea and spewing of blood-tinged sputum for 2 weeks, shortly after delivery. Chest PA showed diffuse reticular and ground-glass opacities on both lung field. HRCT showed multiple well-defined and relatively uniform size air cysts with a uniform wall thickness on entire both lung fields, with small amount of right pleural effusion. By thoracoscopic lung biopsy she was diagnosed with pulmonary lymphangioleiomyomatosis. We report these cases with a brief review of the literatures.