scholarly journals Tuberous sclerosis complex

2012 ◽  
Vol 87 (2) ◽  
pp. 184-196 ◽  
Author(s):  
Daniela Araujo Rodrigues ◽  
Ciro Martins Gomes ◽  
Izelda Maria Carvalho Costa
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Multisystem Disorder ◽  
Therapeutic Trials ◽  
Multiple Organs ◽  
Tissue Replacement ◽  
History Of ◽  
Neurocutaneous Syndrome ◽  
Made In

Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course. This article aims to inform the scientific community about advances made in the study of genetics and molecular biology. Recent findings regarding stimulation of tumor growth have been changing the history of this condition, making therapeutic trials with topical and systemic drugs possible. Knowledge of these topics enables better management of the patients affected, since tissue replacement by tumors can result in significant morbidity and mortality.

scholarly journals TUBEROUS SCLEROSIS : ITS VARIED PRESENTATION

2020 ◽  
pp. 1-2
Author(s):  
Puja D. Nandaniya
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Benign Tumors ◽  
Gingival Hyperplasia ◽  
Oral Manifestations ◽  
Enamel Hypoplasia ◽  
Multiple Organs ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex.

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Tuberous Sclerosis Complex Associated Lymphangioleiomyomatosis Presenting with Spontaneous Pneumothorax and Renal Angiomyolipomas

2019 ◽  
Vol 48 (2) ◽  
pp. 51-54
Author(s):  
Mohammed Mirazur Rahman ◽  
Shish Mohammad Sarkar ◽  
Manzurul Ibrahim Musa ◽  
Farjana Binte Habib ◽  
Md Nazmul Hasan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Multisystem Disorder ◽  
Autosomal Dominant Disorder ◽  
Oxygen Inhalation ◽  
Lower Back ◽  
Thin Walled

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder manifested by involvement of multisystem including skin, central nervous system, heart, kidneys and eyes. Lymphangioleiomyomatosis (LAM) is also a multisystem disorder that primarily affects the lungs. We report a case of tuberous sclerosis complex associated lymphangio-leiomyomatosis (TSC-LAM) in a 26-year-old female patient who was presented with spontaneous pneumothorax and renal angiomyolipomas. In clinical examination; We found multiple angiofibromas over her face, shagreen patches over upper and lower back and ungual fibromas in both fingers and toes. HRCT of chest revealed right sided pneumothorax with multiple thin walled cysts in both lungs. Ultrasonogram (USG) and Computer Tomography (CT) scan of abdomen revealed bilateral angiomyolipomas. We managed her pneumothorax with intercostal chest tube drainage and oxygen inhalation. Bangladesh Med J. 2019 May; 48 (2): 51-54

scholarly journals Case report on Tuberous Sclerosis

2014 ◽  
Vol 2 (4) ◽  
pp. 208-210
Author(s):  
Sushma Shrestha ◽  
Sabina Shrestha ◽  
Anil Raj Ojha
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Late Childhood ◽  
Multisystem Disorder ◽  
Rare Genetic Disorder ◽  
Autosomal Dominant Fashion

Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness of early diagnosis in infancy. Here, we report a case of an 11 year male child with tuberous sclerosis.DOI: http://dx.doi.org/10.3126/jkmc.v2i4.11798Journal of Kathmandu Medical CollegeVol. 2, No. 4, Issue 6, Oct.-Dec., 2013Page : 208-210

scholarly journals Tuberous Sclerosis Complex in a Family

1970 ◽  
Vol 11 (1) ◽  
pp. 94-98
Author(s):  
Md Azizul Haque ◽  
Laila Shamima Sharmi ◽  
ARM Saifuddin Ekram ◽  
Md Saiful Islam
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Variable Degree ◽  
Popular Belief ◽  
Neurocutaneous Disorder ◽  
Neurocutaneous Syndrome

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is an autosomal dominant, multisystem, neurocutaneous disorder characterized by development of widespread hamartomatous lesions involving skin, brain, kidney, retina etc. Contrary to the popular belief, the disease has variable degree of expressivity and not all patients have the severe debilitating form. We report two cases of tuberous sclerosis complex in a family and then the literature is reviewed. Keywords: Tuberous sclerosis, neurocutaneous syndrome, hamartoma, phakomatosis DOI:10.3329/jom.v11i1.4284 J Medicine 2010: 11: 94-98

scholarly journals A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

scholarly journals Mosaicism in Tuberous Sclerosis Complex: A Case Report, Literature Review, and Original Data from Danish Hospitals

2021 ◽  
pp. 98-105
Author(s):  
Julie Loft Nagel ◽  
Maja Patricia Smerdel ◽  
Lisbeth Birk Møller ◽  
Lotte Andreasen ◽  
Anette Bygum
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Original Data ◽  
Hereditary Disease ◽  
Loss Of Function ◽  
Low Level ◽  
Multiple Organs ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disease with hamartomatous growths in multiple organs due to loss-of-function variants in TSC1 or TSC2. In approximately 15% of patients with clinical TSC, no pathogenic variant can be identified, and low-level mosaicism is suggested to be one of the reasons. Mosaicism is well-known in TSC and challenges the molecular genetic diagnosis. The advent of next-generation sequencing has improved the diagnostics in TSC including in patients with mosaicism. The TSC phenotype varies widely, and mosaic patients with TSC are often considered to have a milder phenotype. Here, the authors describe a patient with mosaic TSC with a 10% variant allele fraction and manifestations in three organ systems (skin, eyes, and kidneys). Furthermore, the authors studied existing literature about phenotypic organ manifestations in patients with mosaic TSC. No clear definition of the phenotype of patients with mosaic TSC could be established, but unilateral angiofibromas and the absence of tubers and a subependymal nodule could indicate mosaicism. The case shows that patients with low-level mosaic TSC can have multiple affected organ systems though still a mild clinical picture.

scholarly journals Tuberous sclerosis complex: a clinical case with multiple ophthalmological manifestations

2018 ◽  
pp. bcr-2018-226662
Author(s):  
Tiago Maio ◽  
José Lemos ◽  
Jorge Moreira ◽  
Filipa Sampaio
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Nerve Palsy ◽  
Autosomal Dominant ◽  
Obstructive Hydrocephalus ◽  
Abducens Nerve ◽  
Signs And Symptoms ◽  
Optic Discs ◽  
Expansive Lesion ◽  
Binocular Diplopia

The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease.We describe the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache. She had right abducens nerve palsy, pale oedema of both optic discs and retinal hamartomas. An obstructive hydrocephalus caused by an intraventricular expansive lesion was identified in brain CT.Observation by the ophthalmologist is indicated in all confirmed or suspected cases of tuberous sclerosis to aid in clinical diagnosis, monitoring of retinal hamartomas or identification of poorly symptomatic papilloedema.

Brain MRI in Fetuses with Cardiac Tumours

2007 ◽  
Vol 20 (5) ◽  
pp. 494-499 ◽  
Author(s):  
E. Jurkiewicz ◽  
M. Bekiesińska-Figatowska ◽  
A. Romaniuk-Doroszewska ◽  
J. Dangel
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Imaging Modality ◽  
Brain Mri ◽  
Multisystem Disorder ◽  
Complete Evaluation ◽  
Sonographic Examination ◽  
Diagnosis And Prognosis ◽  
Prenatal Mri ◽  
Cardiac Tumours

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder which affects the skin, brain, heart and other organs. It is caused by mutations of two genes: TSC1 (on chromosome 9q34) or TSC2 (on 16p13.3). 70% of cases are sporadic with new mutations. This study aimed to highlight the utility of prenatal MRI as an adjunct imaging modality in the diagnosis and prognosis of tuberous sclerosis complex. Prenatal ultrasound and magnetic resonance imaging were performed in seven fetuses at a gestational age of 30, 32, 34 and 35 weeks using a 1.5 T MRI scanner. SSFSE,T2- and FGRE/T1-weighted images were obtained in axial, coronal and sagittal planes. Postnatal MRI was performed in two cases. Intracardiac tumors (rhabdomyomas) were revealed on ultrasound in all fetuses. On sonographic examination the brain tissue appeared normal in all cases. Brain MRI revealed focal low-signal-intensity lesions, localized along the walls of the lateral ventricles of five fetuses. Another hypointense lesion was seen at the grey/white matter junction in one case. Brain MRI of two fetuses was normal. The diagnosis of TSC was established in five cases. Postnatal MRI in two cases confirmed prenatal findings. MRI allows more complete evaluation of the fetus and helps to determine the diagnosis and prognosis in cases of TSC. The use of prenatal MR imaging in addition to prenatal sonography has the potential to improve genetic counseling and prenatal diagnosis of patients with tuberous sclerosis.

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