Tuberous Sclerosis, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

By Kenneth Kee

This book describes Tuberous Sclerosis, Diagnosis and Treatment and Related Diseases
Tuberous sclerosis complex (TSC) is a genetic disorder that is typically featured by hamartomas in many organs, but especially the skin, brain, eye, kidney and heart.
Hamartomas are non-cancerous malformations comprising an overgrowth of the cells and tissues that normally happen in the affected area and include nevi (birthmarks).
It is inherited in an autosomal dominant manner and is characterized by a higher predisposition to hamartoma formation.
It happens from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders such as epilepsy and intellectual disability.
TSC is normally diagnosed in childhood or infancy, and the involved individuals may manifest with developmental delay, skin manifestations, or seizures.
Some presentations may be evident pre-natally, such as cardiac rhabdomyomas or cortical tubers.
Other signs, such as osseous, renal or pulmonary lesions are often diagnosed in adulthood.
The manifestation of the disease will differ depending on the developmental stage of the patient.
While skin lesions are identified in 90% of patients of all ages, hypo-pigmented macules are normally present in early childhood.
Causes
Tuberous sclerosis is a genetic disorder from a mutation in one of 2 genes:
1. TSC1, which produces a protein called hamartin (10–30% of cases)
2. TSC2, which produces a protein called tuberin
About one-third of all cases of tuberous sclerosis are inherited from an affected parent.
All other cases are due to sporadic new mutations happening in the early stages of life, most often mutations of TSC2.
Symptoms
A. Skin lesions are present in 60-70% of cases of tuberous sclerosis.
Angiofibromas
Ungual fibromas
Shagreen patch
Ovoid or ash leaf-shaped white macules
B. Other organ involvement
Epilepsy is evident in about 70% of patients with tuberous sclerosis.
It normally starts in infancy or early childhood before the appearance of skin lesions by years
Developmental delay and behavioral problems may also happen.
1. Mild to severe mental retardation,
2. Autism,
3. Attention deficit disorder (ADD),
4. Anxiety,
5. Depression,
6. Paranoia and
7. Schizophrenia.
Other signs and symptoms of tuberous sclerosis are:
1. Eye involvement: white spots on the iris and white lumps on the retina
2. Heart, gastrointestinal and kidney tumors
3. Lung changes
Diagnosis
Tuberous sclerosis is mainly diagnosed based on medical criteria but it can also be diagnosed with genetic testing.
Genetic testing of TSC1 and TSC2 is positive in 75% to 95% of patients affected with TSC
The diagnostic criteria for tuberous sclerosis involve these major and minor features:
Major Features
1. Hypo-melanotic macules (more than 2, and at least 5-mm in diameter)
2. Angiofibromas (more than 2) or fibrous cephalic plaque
3. Ungual fibromas (more than 1)
4. Shagreen patch
5. Multiple retinal hamartomas
6. Cortical dysplasias
7. Sub-ependymal nodules
8. Sub-ependymal giant cell astrocytoma
9. Cardiac rhabdomyoma
10. Lymphangioleiomyomatosis
11. Angiomyolipomas (more than 1)
Minor Features
1. Confetti skin lesions
2. Dental enamel Pitts (more than 3)
3. Intra-oral fibromas (more than 1)
4. Retinal achromic patch
5. Multiple renal cysts
6. Non-renal hamartomas
Treatment
Tuberous sclerosis is a multi-system disorder, so treatment from a team of doctors is necessary.
Laser treatment or electro-surgery can be done to remove angiofibromas.
The topical mTOR inhibitor sirolimus 0.2% gel has proved useful in decreasing angiofibromas
The treatment of acutely symptomatic sub-ependymal giant cell astrocytomas (SEGA) is surgical resection.

TABLE OF CONTENT
Introduction
Chapter 1 Tuberous

• Language: English
• Publisher: Kenneth Kee
• Release date: Nov 5, 2019
• ISBN: 9780463913413

Kenneth Kee

Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

Book preview

Tuberous Sclerosis,

A

Simple

Guide

To

The Condition,

Diagnosis,

Treatment

And

Related Conditions

By

Dr Kenneth Kee

M.B.,B.S. (Singapore)

Ph.D (Healthcare Administration)

Copyright Kenneth Kee 2019 Smashwords Edition

Published by Kenneth Kee at Smashwords.com

Dedication

This book is dedicated

To my wife Dorothy

And my children

Carolyn, Grace

And Kelvin

This book describes Tuberous Sclerosis, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

(What You Need to Treat Tuberous Sclerosis)

This e-Book is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

Thank you for respecting the hard work of this author.

Introduction

I have been writing medical articles for my blog: http://kennethkee.blogspot.com (A Simple Guide to Medical Disorder) for the benefit of my patients since 2007.

My purpose in writing these simple guides was for the health education of my patients.

Health Education was also my dissertation for my Ph.D (Healthcare Administration).

I then wrote an autobiography account of my journey as a medical student to family doctor on my other blog: http://afamilydoctorstale.blogspot.com.

This autobiography account A Family Doctor’s Tale was combined with my early A Simple Guide to Medical Disorders into a new Wordpress Blog A Family Doctor’s Tale on http://kenkee481.wordpress.com.

From which many free articles from the blog was taken and put together into 800 eBooks.

Some people have complained that the simple guides are too simple.

For their information they are made simple in order to educate the patients.

The later books go into more details of medical disorders.

The first chapter is always from my earlier blogs which unfortunately tends to have typos and spelling mistakes.

Since 2013, I have tried to improve my spelling and writing.

As I tried to bring the patient the latest information about a disorder or illness by reading the latest journals both online and offline, I find that I am learning more and improving on my own medical knowledge in diagnosis and treatment for my patients.

Just by writing all these simple guides I find that I have learned a lot from your reviews (good or bad), criticism and advice.

I am sorry for the repetitions in these simple guides as the second chapters onwards have new information as compared to my first chapter taken from my blog.

I also find repetition definitely help me and maybe some readers to remember the facts in the books more easily.

I apologize if these repetitions are irritating to some readers.

Chapter 1

Tuberous sclerosis

What is tuberous sclerosis?

Tuberous sclerosis complex (TSC) is a genetic disorder that is typically featured by hamartomas in many organs, but especially the skin, brain, eye, kidney and heart.

Hamartomas are non-cancerous malformations comprising an overgrowth of the cells and tissues that normally happen in the affected area and include nevi (birthmarks).

Tuberous sclerosis is also termed epiloia.

Skin lesions, epileptic seizures and developmental delay/behavioral disorders are the main features of tuberous sclerosis complex.

Individuals with the disorder may be involved in many different ways and with differing degrees of severity.

Some patients may have very few, or no symptoms at all while others may be severely involved with a large number of symptoms.

Tuberous sclerosis complex (TSC) is a genetic disorder that involves multiple systems.

It is inherited in an autosomal dominant manner and is characterized by a higher predisposition to hamartoma formation.

It happens from mutations in the genes TSC1 and TSC2 and is known for causing neurological disorders such as epilepsy and intellectual disability.

TSC is normally diagnosed in childhood or infancy, and the involved individuals may manifest with developmental delay, skin manifestations, or seizures.

It may also be diagnosed earlier or later, according to a wide array of medical presentations.

Some presentations may be evident pre-natally, such as cardiac rhabdomyomas or cortical tubers.

Other signs, such as osseous, renal or pulmonary lesions are often diagnosed in adulthood.

The manifestation of the disease will differ depending on the developmental stage of the patient.

While skin lesions are identified in 90% of patients of all ages, hypo-pigmented macules are normally present in early childhood.

Ungual fibromas happen near puberty, and facial angiofibromas are more frequent in adolescence.

This disease has a highly inconsistent medical course.

Prognosis may be indefinite, and follow-up needs complete appraisal, often in special institutions.

What are the causes of tuberous sclerosis?

Causes

Tuberous sclerosis is a genetic disorder from a mutation in one of 2 genes:

1. TSC1, which produces a protein called hamartin (10–30% of cases)

2. TSC2, which produces a protein called tuberin

About one-third of all cases of tuberous sclerosis are inherited from an involved parent.

All other cases are due to sporadic new mutations happening in the early stages of life, most often mutations of TSC2.

People of all races and sex may be involved.

The disorder may become obvious any time from infancy to adulthood but normally happens between 2-6 years of age.

Genetics of Tuberous sclerosis

Tuberous sclerosis complex develops from mutations in the genes TSC1 (9q34) and TSC2 (16p13.3), encoding hamartin and tuberin, respectively.

A broad spectrum of mutations has been mentioned in both genes, and while no particular regions appear more liable to mutations, the incidence is always higher for TSC2 than TSC1.

Among patients who meet the medical criteria for tuberous sclerosis, about 15% have no identifiable genetic mutations.

Incidence

Tuberous sclerosis complex involves about