TUBEROUS SCLEROSIS : ITS VARIED PRESENTATION

Autosomal Dominant ◽

Benign Tumors ◽

Gingival Hyperplasia ◽

Oral Manifestations ◽

Enamel Hypoplasia ◽

Multiple Organs ◽

Neurocutaneous Syndrome ◽

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.

Tale of a Teenager: A Case Report of Tuberous Sclerosis

Bangladesh Journal of Medicine ◽

10.3329/bjm.v33i1.56798 ◽

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 ◽

Autosomal Dominant ◽

Skin Lesions ◽

Benign Tumors ◽

Dominant Inheritance ◽

Neurocutaneous Syndrome ◽

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

Tuberous sclerosis complex

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962012000200001 ◽

2012 ◽

Vol 87 (2) ◽

pp. 184-196 ◽

Cited By ~ 11

Author(s):

Daniela Araujo Rodrigues ◽

Ciro Martins Gomes ◽

Izelda Maria Carvalho Costa

Keyword(s):

Tuberous Sclerosis ◽

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.

Familial Tuberous Sclerosis: a case report

International Journal of Scientific Reports ◽

10.18203/issn.2454-2156.intjscirep20160716 ◽

2016 ◽

Vol 2 (3) ◽

pp. 53

Author(s):

Gajanan A. Surwade ◽

Uddhav S. Khaire ◽

Sagar P. Patil ◽

Mamta K. Mulay ◽

Mangala S. Borkar

Keyword(s):

Tuberous Sclerosis ◽

Multiple Organ ◽

Benign Tumors ◽

Gingival Hyperplasia ◽

Gene Encoding ◽

Cardiac Rhabdomyoma ◽

Pulmonary Lymphangioleiomyomatosis ◽

Organ Systems ◽

Neurocutaneous Syndrome

<p class="abstract"><span lang="EN-US">Tuberous sclerosis is a neurocutaneous syndrome with an autosomal dominant inheritance. Tuberous sclerosis complex Syndrome caused by mutations of either the TSC1 orTSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumors; the most common oral manifestations of TSC are fibromas (angiofibromas), gingival hyperplasia and enamel hypoplasia and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of gene for the disease when carefully examined. We report a case of 25 year old female with the features of Tuberous sclerosis complex like seizures, papules over the cheek, shagreen patch, hypomelanotic macule on arm, buttacks, pulmonary lymphangioleiomyomatosis, subependymal nodules and tubers in brain, angiomyolipoma in both kidneys and Cardiac rhabdomyoma. This article reports on a family with documented tuberous sclerosis in three generations.</span></p>

A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Human Genome Variation ◽

10.1038/s41439-020-00124-8 ◽

2020 ◽

Vol 7 (1) ◽

Author(s):

Saba Ahmad ◽

Luis Manon ◽

Gifty Bhat ◽

Jerry Machado ◽

Alice Zalan ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Cellular Differentiation ◽

Autosomal Dominant ◽

De Novo ◽

Autosomal Dominant Disease ◽

Sacrococcygeal Teratoma ◽

Dominant Disease ◽

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

10.36106/gjra/4910349 ◽

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 ◽

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.

Tuberous Sclerosis Complex

10.1093/med/9780199937837.003.0050 ◽

2017 ◽

Author(s):

Tanjala T. Gipson ◽

Andrea Poretti ◽

Rebecca McClellan ◽

Michael V. Johnston

Keyword(s):

Tuberous Sclerosis ◽

Scientific Discovery ◽

Skin Lesions ◽

Benign Tumors ◽

Behavioral Difficulties ◽

Future Directions ◽

Neurocutaneous Disorder ◽

The Status ◽

Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.

Case Report on: Tuberous Sclerosis

Journal of Pharmaceutical Research International ◽

10.9734/jpri/2021/v33i52a33567 ◽

2021 ◽

pp. 140-147

Author(s):

Ruchira Ankar ◽

Archana Dhengare ◽

Arti Raut ◽

Seema Singh ◽

Samruddhi Gujar

Keyword(s):

Tuberous Sclerosis ◽

Genetic Disorder ◽

Hereditary Disease ◽

Chief Complaint ◽

Benign Tumors ◽

Surrounding Area ◽

Benign Tumours ◽

Intellectual Incapacity ◽

Introduction: Tuberous sclerosis is a rare hereditary disease that creates noncancerous tumours in the brain, kidneys, heart, liver, eyes, lungs, and skin. Seizures, intellectual incapacity, developmental delays, and behavioral issues are just a few of the warning symptoms. Like Skin problems, and lung and kidney problems. A hereditary mutation in one of two genes causes TSC.TSC1 and TSC2 are two distinct TSC types. The proteins hemartin and tuberin, which act as tumour suppressors and govern cell proliferation and differentiation, are produced by these genes. [1]. Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder that affects 1 in every 6,000 to 1 in every 18,000 people. It's a life-threatening condition caused by the formation of benign tumors/lesions in several organs. Tumors can affect organ growth and/or function and are frequent in the brain, heart, skin, kidneys, and lungs. The number of organs affected, as well as the size of tumours inside each organ, varies greatly. As a result, the disease's symptoms are extremely variable and unexpected [2]. Case Presentation: A 35-year old female admitted to AVBRH on date 25/11/2021 with the chief complaint of fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days. History of Present Illness: Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic disease that causes non-cancerous (benign) tumours in the brain, skin, kidneys, heart, eyes, and lungs. A 35-yearold female admitted to hospital on date 25/11/2020 with the chief complaint was fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 4month. Interventions: The patient was treated the patient was started on Injection- Ceftriaxone, 1gm - Intravenous – BD- Antibiotic, Injection- Pan, 40mg – Intravenous- BD – Antacid, Injection- Livipril, 100mg – Intravenous- BD- Anticonvulsant, Injection- Paracetamol, 150mg – Intra muscular- SOS- Antipyretic. Conclusion: During hospital stay with the chief complaint of patient are fever chills, nausea, vomiting and itching and back skin over mouth and eye surrounding area since in 10 days. Her situation was critical, therefore she was brought to AVBR Hospital and treatment was started right away.

Oral Findings in Children, Adolescents and Adults with Tuberous Sclerosis Complex

Journal of Clinical Pediatric Dentistry ◽

10.17796/1053-4625-44.3.10 ◽

2020 ◽

Vol 44 (3) ◽

pp. 190-195

Author(s):

Emil Korporowicz ◽

Dorota Olczak-Kowalczyk ◽

Maja Lipiec ◽

Monika Słowińska ◽

Dariusz Gozdowski ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Genetic Disorder ◽

Tooth Wear ◽

Benign Tumors ◽

Oral Lesions ◽

Gingival Hyperplasia ◽

Enamel Defects ◽

Traumatic Lesions ◽

Adolescents And Adults

Objectives: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors. The aim of the study was to assess the prevalence of oral lesions in patients with TSC and healthy individuals. Study design: The study included 120 patients aged 1.1 to 42.7 years: 60 patients with TSC and 60 controls. Clinical assessment of oral hygiene (Plaque Index–PLI), gingiva (Gingival Index–GI, Gingival Overgrowth Index–GOI), oral mucosa and dentition (caries, tooth wear, enamel defects) was performed. Statistical analysis was performed. Results: 40 patients with TSC received anticonvulsants. Neglected hygiene (PLI: 1.50±0.96 vs 0.92±0.72), gingival hyperplasia (50.0% vs.1.7%), gingivitis (80.7% vs. 53.4%), oral mucosal fibromas (10.0% vs. 0.0%), mucous membrane traumatic lesions (11.7% vs. 1.7%), enamel pits and hypoplasia of incisal borders (41.7% vs. 6.7%), tooth wear (35.0% vs. 11.7%) were more common in patients with TSC compared to controls; increased gingival hyperplasia was correlated with vigabatrin and levetiracetam treatment (r = 0.266 and 0.279, respectively), gingivitis was correlated with PLI (r= 0.635). Conclusions: Although gingival fibromas in TSC are independent of patient’s age, young age, anticonvulsant therapy and local factors increase their severity. Enamel defects in TSC include pits, but also enamel loss on the incisal edges and tooth wear.

Tuberous Sclerosis Complex in a Family

Journal of Medicine ◽

10.3329/jom.v11i1.4284 ◽

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 ◽

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

Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.2020190118 ◽

2021 ◽

Vol 118 (6) ◽

pp. e2020190118

Author(s):

Sharon Barone ◽

Kamyar Zahedi ◽

Marybeth Brooks ◽

Elizabeth P. Henske ◽

Yirong Yang ◽

...

Keyword(s):

Transcription Factor ◽

Tuberous Sclerosis ◽

Cyst Formation ◽

Benign Tumors ◽

Intercalated Cells ◽

Forkhead Transcription Factor ◽

Double Knockout ◽

Multiple Organs ◽

Expression Studies

Tuberous sclerosis complex (TSC) is caused by mutations in either TSC1 or TSC2 genes and affects multiple organs, including kidney, lung, and brain. In the kidney, TSC presents with the enlargement of benign tumors (angiomyolipomata) and cysts, which eventually leads to kidney failure. The factors promoting cyst formation and tumor growth in TSC are incompletely understood. Here, we report that mice with principal cell-specific inactivation of Tsc1 develop numerous cortical cysts, which are overwhelmingly composed of hyperproliferating A-intercalated (A-IC) cells. RNA sequencing and confirmatory expression studies demonstrated robust expression of Forkhead Transcription Factor 1 (Foxi1) and its downstream targets, apical H+-ATPase and cytoplasmic carbonic anhydrase 2 (CAII), in cyst epithelia in Tsc1 knockout (KO) mice but not in Pkd1 mutant mice. In addition, the electrogenic 2Cl−/H+ exchanger (CLC-5) is significantly up-regulated and shows remarkable colocalization with H+-ATPase on the apical membrane of cyst epithelia in Tsc1 KO mice. Deletion of Foxi1, which is vital to intercalated cells viability and H+-ATPase expression, completely abrogated the cyst burden in Tsc1 KO mice, as indicated by MRI images and histological analysis in kidneys of Foxi1/Tsc1 double-knockout (dKO) mice. Deletion of CAII, which is critical to H+-ATPase activation, caused significant reduction in cyst burden and increased life expectancy in CAII/Tsc1 dKO mice vs. Tsc1 KO mice. We propose that intercalated cells and their acid/base/electrolyte transport machinery (H+-ATPase/CAII/CLC-5) are critical to cystogenesis, and their inhibition or inactivation is associated with significant protection against cyst generation and/or enlargement in TSC.