The Diverse Clinical Manifestations of Tuberous Sclerosis Complex: A Review

Rosser, Tena; Panigrahy, Ashok; McClintock, W.

doi:10.1016/j.spen.2006.01.008

Cited by 101 publications

(86 citation statements)

References 71 publications

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“…The pathogenesis results from the expression and action of the products of these genes: the proteins tuberin and hamartin, respectively, in all tissues that, simultaneously, act on the modulation of cellular growth. 2 The disease affects primarily the skin and the …”

Section: Discussionmentioning

confidence: 99%

“…1 It affects approximately 1 in every 6.000 to 10.000 individuals. 2 The skin is involved in around 90% of the cases, and the signs associated with TS are hypomelanic macules, angiofibromas, fibrotic plaques on the forehead, periungual fibromas, cutaneous plaques with "orange peel" aspect, gingival fibromas, and "café-aulait" macules. 3 During puberty the angiofibromas proliferate to involve the nose and cheeks, symmetrically, becoming a source of great psycho-social and hygiene issues.…”

Section: Introductionmentioning

confidence: 99%

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Tratamento dos angiofibromas múltiplos da face com radiofrequência

Gomes

Gomes²,

Lima

et al. 2011

An. Bras. Dermatol.

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Resumo: Esclerose tube ro sa é uma doen ça gené ti ca rara, com heran ça autos sô mi ca domi nan te, asso cia da à for ma ção de hamar to mas múl ti plos em vários órgãos, como cére bro, pele, pul mões, rins, cora ção e olhos. Os auto res deste estu do apre sen tam um caso de uma pacien te do sexo femi ni no, com 30 anos de idade, por ta do ra de escle ro se tube ro sa, apre sen tan do múl ti plos angio fi bro mas em face, tra ta da com equi pa mento de alta fre quên cia (radio fre quên cia), e dis cu tem as opções tera pêu ti cas para tra ta men to de indi ví duos por ta do res de escle ro se tube ro sa com exten so envol vi men to cutâ neo. Palavras-chave: Angiofibroma, Eletrocirurgia; Esclerose tube ro sa Abstract: Tuberous scle ro sis is a rare gene tic disea se with auto so mal domi nant inhe ri tan ce, asso cia ted with mul ti ple hamar to mas in seve ral organs, such as the brain, skin, lung, kid ney, heart and eyes. The authors of this study report a case of a 30 years old fema le patient with tube rous scle ro sis, pre sen ting multi ple angio fi bro mas on face trea ted with high fre quency equip ment (radio fre quency), and dis cuss the thera peu tic options for treat ment of indi vi duals with exten si ve cuta neous invol ve ment in tube rous scle ro sis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Tratamento dos angiofibromas múltiplos da face com radiofrequência

Gomes

Gomes²,

Lima

et al. 2011

An. Bras. Dermatol.

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“…Their architecture expands the gyri and disrupts the graywhite matter junction. Tubers vary in size from millimeters to centimeters and are frequently multiple (4,10,17,19,27).…”

Section: A B C Ekici Ma Et Al: Surgical Timing Of the Subependymal Gmentioning

confidence: 99%

“…SENs are most commonly found around the area of the foramen Monro. They tend to calcify with time and for this reason are often more easily identified on CT imaging (1,4,16,17,27). Literature proposes that subependymal nodules a turn into tumor as a risk factor when they are greater than 5mm, with incomplete calcification and contrast enhancement.…”

Section: A B C Ekici Ma Et Al: Surgical Timing Of the Subependymal Gmentioning

confidence: 99%

“…TSC may cause hamartomatous lesions of all organs but primarily affects tissues of the skin, central nervous system, kidneys, eyes, heart, and lungs. The disease is characterized by a broad physical phenotypic spectrum with epilepsy, mental retardation, renal dysfunction, and dermatologic abnormalities (26,27,32). The pathogenesis of TSC lies in the expression and function of the gene products, tuberin in TSC2 and hamartin in TSC1, in tissue (7,21,36).…”

Section: Introductionmentioning

confidence: 99%

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Surgical timing of the subependymal giant cell astrocytoma (sega) with the patients of tuberous sclerosis complex. .

Ekici

Kumandaş²,

Per³

et al. 2011

Turkish Neurosurgery

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AIm: Tuberous sclerosis complex has shown a wide variety of clinical, pathologic and radiologic manifestations. Many tumor types are found in tuberous sclerosis, which includes subependimal giant cell astrositoma. The aim of this study is to focus on surgical timing of the tumor. mAterIAl and methOds: This study included 37 children with tuberous sclerosis presenting to Erciyes Univercity Medical School, whose hospital record were retrospectively evaluated between 1995 and 2010. Of the 5 patients had diagnosed with the subependymal giant cell astrocytoma and three patients were opereted on.results: In the 27 of the patients had subependimal nodules (73%), cortical tubers were in the 19 patients (51,4%), giant cell astrositoma (SEGA) were in the 5 patients (13,5%). Mental retardation in different level was detected in the 18 patients (48.6%). The other clinical findings of the patients were angiomyolipomas (37.8%), hypomelanotic macules (91.9%), Convulsion (54.1%), adenoma sebaceum (32.4%) , West syndrome (16.22%), shagreeen patch (16.2%), intracardiac tumor (37.8%), subungual fibroma (2.7%), fibroadenom in the neck (2.7%).COnClusIOn: A multidisciplinary approach is essential for an early, accurate diagnosis and proper management of affected individuals. The early surgical menagement for subependimal giant cell astrocytoma are recommended, and also periodic monitoring even for asymptomatic patients with subependymal nodules. KeywOrds: Tuberous sclerosis complex, Subependymal giant cell astrositoma, Surgical timing ÖZAmAÇ: Tüberus sklerozis kompleks klinik, patolojik ve radyolojikolarak geniş bir çeşitlilik göstermektedir. Subependimal dev hücreli astrositomanın dahil olduğu birçok tümör tipi bulunur. Bu çalışmanın amacı tümörün cerrahi zamanlamasına dikkat çekmek. yÖntem ve GereÇ: Erciyes Üniversitesi Tıp Fakültesi Hastanesi'nde 1995-2010 yılları arasında hasta kayıtları geriye dönük olarak değerlen-dirildi ve 37 tüberus sklerozisli hasta çalışmaya dahil edildi. Hastaların 5'ine subependimal dev hücreli astrositom tanısı konuldu ve üç hasta ameliyat edildi.BulGulAr: 27 hastada (%73) subependimal nodul, 19 hastada (%51.4) kortikal tuber, 5 hastada (%13.5) dev hücreli astrositom vardı. 18 hastada (%48.6) farklı seviyelerde mental retardasyon tespit edildi. Hastaların diğer klinik bulguları; anjiyomyolipom (%37.8), hipomelanotik makul (%91.9), konvulzyon (%54.1), adenoma sebaseum (%32.4), west sendromu (%16.2), shagreen lekeleri (%16.2), intrakardiak tümör (%37.8), subungual fibroma (%2.7), boyunda fibro adenomdu (%2.7).sOnuÇ: Etkilenmiş bireylerin erken, doğru ve uygun tedavisi için multidisipliner yaklaşım esastır. Subependimal dev hücreli astrositomada erken cerrahi önerilir ve de subependimal nodullü hastalar için peryodik izleme önerilir.AnAhtAr sÖZCÜKler: Tüberus sklerozis kompleks, Subependimal dev hücreli astrositom, Cerrahi zamanlama

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Cardiac Tumors

Frommelt

2016

Echocardiography in Pediatric and Congenital Heart Disease

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The Diverse Clinical Manifestations of Tuberous Sclerosis Complex: A Review

Cited by 101 publications

References 71 publications

Tratamento dos angiofibromas múltiplos da face com radiofrequência

Tratamento dos angiofibromas múltiplos da face com radiofrequência

Surgical timing of the subependymal giant cell astrocytoma (sega) with the patients of tuberous sclerosis complex. .

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