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    Neurofibromatosis 1, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Neurofibromatosis 1, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Neurofibromatosis 1, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Ebook114 pages1 hour

    Neurofibromatosis 1, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions

    By Kenneth Kee

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    About this ebook

    Neurofibromatosis is a genetic medical disorder causing tumors in the skin, nervous system and skeleton.
    The neurofibromatoses are autosomal dominant genetic disorders that consist of the rare diseases NF1, NF2, and schwannomatosis:
    1. NF1 is the more common form of the neurofibromatoses.
    Type 1 is caused by a defect in the gene, NF1, located at chromosome 17q11.2.
    Neurofibromin, the gene product, is a widespread nervous system protein and is believed to act as a tumor suppressor.
    Loss of neurofibromin results in a higher risk of forming benign and malignant tumors but effects of a mutation differ greatly between sufferers
    It can occur at any age due to a range of mutations, differing penetration and mosaicism.
    Watson's syndrome is the only subtype of NF1 to have a common phenotype in families and is typically featured by pulmonary stenosis, cognitive impairment, cafe au lait patches and few skin neurofibromas
    In diagnosing NF1, a doctor looks for alterations in:
    1. Skin appearance,
    2. Tumors,
    3. Bone abnormalities,
    4. A parent, sibling or child with NF1.
    Symptoms of NF1, which may be present at birth and nearly always by the time the child is 10 years old, are:
    a. Light brown spots on the skin ("cafe-au-lait" spots),
    b. Two or more growths on the iris of the eye,
    c. A tumor on the optic nerve,
    d. A larger than normal head circumference,
    e. Abnormal development of the spine, a skull bone, or the tibia.
    2. Type 2 is a central form with CNS tumors rather than skin lesions.
    The tumors cause injury by pressure on the neighboring nerves.
    CT or MRI of the brain or other involved sites may be needed.
    Biopsy of asymptomatic skin neurofibromas need not be done for diagnostic purposes in patients with definite NF1.
    There is no specific treatment for neurofibromatosis.
    Tumors that cause pain or loss of function may be excised.
    Tumors that have grown quickly should be excised promptly as they may become cancerous

    TABLE OF CONTENT
    Introduction
    Chapter 1 Neurofibromatosis Type 1
    Chapter 2 Causes
    Chapter 3 Symptoms
    Chapter 4 Diagnosis
    Chapter 5 Treatment
    Chapter 6 Prognosis
    Chapter 7 Acoustic Neuroma
    Chapter 8 Pheochromocytoma
    Epilogue

    LanguageEnglish
    PublisherKenneth Kee
    Release dateOct 21, 2016
    ISBN9781370734450
    Neurofibromatosis 1, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions
    Author

    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"

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      Book preview

      Neurofibromatosis 1, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions - Kenneth Kee

      Neurofibromatosis

      Type 1,

      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 2016 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 the Neurofibromatosis Type 1 Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.

      (What You Need to Treat Neurofibromatosis Type 1)

      This eBook is licensed for the 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 Condition) 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 autobiolographical account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.com.

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

      From which many free articles from the blog was taken and put together into 700 amazon kindle books and some into Smashwords.com 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 conditions.

      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 you the latest information about a condition 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

      Neurofibromatosis Type 1

      Recently I had a patient who has a large swelling on the thumb area of the palm of her hand.

      I thought it was a sebaceous cyst and referred her to a hand surgeon for removal of the swelling.

      After the operation the patient returned and told me that the hand surgeon removed 3 swellings in the palm and 1 small one on the ulnar side of her wrist.

      They were sent for biopsy which showed that the swellings were skin neurofibromas.

      It was the first time that I have a patient with skin neurofibroma and no other symptoms and signs of neurofibromatosis type 1.

      This book will only describe Neurofibromatosis Type 1.

      What is Neurofibromatosis?

      Neurofibromatosis is a genetic medical disorder causing tumors in the skin, nervous system and skeleton.

      The neurofibromatoses are autosomal dominant genetic disorders that consist of the rare diseases NF1, NF2, and schwannomatosis:

      1. NF1 is the more common form of the neurofibromatoses.

      Type 1 is caused by a defect in the gene, NF1, located at chromosome 17q11.2.

      Neurofibromin, the gene product, is a widespread nervous system protein and is believed to act as a tumor suppressor.

      Loss of neurofibromin results in a higher risk of forming benign and malignant tumors but effects of a mutation differ greatly between sufferers

      It can occur at any age due to a range of mutations, differing penetration and mosaicism.

      Watson's syndrome is the only subtype of NF1 to have a common phenotype in families and is typically featured by pulmonary stenosis, cognitive impairment, cafe au lait patches and few skin neurofibromas

      In diagnosing NF1, a doctor looks for alterations in:

      1. Skin appearance,

      2. Tumors,

      3. Bone abnormalities,

      4. A parent, sibling or child with NF1.

      Symptoms of NF1, which may be present at birth and nearly always by the time the child is 10 years old, are:

      a. Light brown spots on the skin (cafe-au-lait spots),

      b. Two or more growths on the iris of the eye,

      c. A tumor on the optic nerve,

      d. A

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