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 : 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.

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.

Tuberous Sclerosis Complex

2017 ◽  
Author(s):  
Tanjala T. Gipson ◽  
Andrea Poretti ◽  
Rebecca McClellan ◽  
Michael V. Johnston
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Scientific Discovery ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Behavioral Difficulties ◽  
Future Directions ◽  
Neurocutaneous Disorder ◽  
The Status ◽  
The Brain

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.

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.

scholarly journals Case report on tuberous sclerosis

2021 ◽  
Vol 97 (2) ◽  
pp. 56-60
Author(s):  
Nadezhda V. Krasnova ◽  
Geliya G. Gimalieva ◽  
Larisa G. Sinitsyna
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Ct Scan ◽  
Tuberous Sclerosis ◽  
Skin Lesions ◽  
Visual Examination ◽  
Comprehensive Examination ◽  
The Face ◽  
The Brain ◽  
Tubular Bones

Patient M., 23 years old, consulted a dermatologist with complaints of rashes on the face, which had bothered since childhood. On objective examination, skin lesions were widespread. A visual examination revealed spots of hypopigmentation, angiofibromas of the face, shagreen fate of the skin, periungual fibromas. She was diagnosed with tuberous sclerosis. Further examination revealed a neoplasm in the brain and right kidney, damage to the lungs, tubular bones, lymphadenopathy. The patient continues to be monitored by a neurologist and therapist. Based on the results of CT scan of the chest organs, an oncologist's consultation was scheduled to conduct an oncology search. Thus, with skin manifestations characteristic of this disease, it is necessary to conduct a comprehensive examination to identify concomitant pathology and early diagnosis of complications.

scholarly journals Case Report on: Tuberous Sclerosis

2021 ◽  
pp. 140-147
Author(s):  
Ruchira Ankar ◽  
Archana Dhengare ◽  
Arti Raut ◽  
Seema Singh ◽  
Samruddhi Gujar
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Hereditary Disease ◽  
Chief Complaint ◽  
Benign Tumors ◽  
Surrounding Area ◽  
Benign Tumours ◽  
Intellectual Incapacity ◽  
The Brain

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.

scholarly journals Case report on tuberous sclerosis

2017 ◽  
Vol 6 (4) ◽  
pp. 997
Author(s):  
Zeebaish S. ◽  
Hemalatha P. ◽  
Anusha Y. ◽  
Surendra Reddy N. ◽  
Durga Prasad T. S.
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Tuberous Sclerosis ◽  
Female Child ◽  
Skin Lesions ◽  
Multisystem Disorder ◽  
Three Generations ◽  
Pigmented Skin Lesions ◽  
The Brain

Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung and liver.  The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.  Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for early diagnosis. We report a case of 3months old female child with seizures and hypo-pigmented skin lesions. The case is rare as it is documented in a family affected continuously in three generations involving four members.

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

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.

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