A Simple Guide to Xeroderma Pigmentosa, Diagnosis, Treatment and Related Conditions
By Kenneth Kee
()
About this ebook
This book describes Xeroderma Pigmentosa, Diagnosis and Treatment and Related Diseases
I was watching a movie called Midnight Sun: The story is about a teenage girl with the genetic disorder, Xeroderma Pigmentosum which stops her from going out into sunlight.
When she gets together with a boy, she struggles to decide whether to inform him about her neurodegenerative disorder or pretend to live a normal life.
In the end she was exposed to the sunlight and died from brain complications of the disease.
Xeroderma pigmentosum (XP) is a very rare a rare autosomal recessive genetic disorder that results due to mutations in nucleotide excision repair.
Xeroderma pigmentosum is produced by cellular hypersensitivity to ultraviolet (UV) radiation, as a result of a defect in the DNA repair system.
The nucleotide excision repair system is able to remove ultraviolet-induced injury to DNA, such as pyrimidine dimers and pyrimidines 6-4 pyrimidones.
The development of xeroderma pigmentosum is caused by the accumulation of un-repaired DNA destruction.
Xeroderma pigmentosum is a skin disorder where a person is:
Highly sensitive to sunlight,
Prone to premature skin ageing and
Prone to occasional progressive neurological degeneration
Prone to developing skin cancers.
Xeroderma pigmentosum is an autosomally recessive inherited disease, which indicates that a faulty xeroderma pigmentosum gene comes from each parent.
People who carry the xeroderma pigmentosum trait have one xeroderma pigmentosum gene and one normal gene and do not show signs or symptoms of the disease.
The features of xeroderma pigmentosum are due to an impaired nucleotide excision repair (NER) system.
At least 8 different gene abnormalities or complementation groups have been found in different families (XPA to XPG) and XP variants resulting in varying disease severity.
The most frequent subtype in the USA is a mutation in the gene XPC.
Xeroderma pigmentosum happens worldwide and involves men and women of all races.
All patients with xeroderma pigmentosum will manifest skin changes due to severe sun sensitivity.
Since XP inheritance is in an autosomal recessive pattern, patients do not normally have a family history of XP, and the parents are healthy.
The disease normally goes through 3 stages.
The first stage happens around 6 months after birth (skin appears normal at birth).
Areas exposed to the sun such as the face manifest with reddening of the skin with scaling and freckling.
These skin changes go on to the neck and lower legs, and in severe cases, to the trunk.
The second stage begins with continued sun exposure and is featured by:
Poikiloderma
Skin atrophy
Telangiectasia
Mottled and hypo-pigmentation.
They also present with other skin changes due to actinic damage such as telangiectasias and actinic keratoses and also develop progressive premature aging of the skin e.g., atrophy, xerosis, and wrinkling.
The third stage is the formation of actinic keratoses and skin cancers.
These may happen as early as age 4–5 years and a mean of 8 years.
They are more frequent in sun-exposed areas such as the face and involve:
Basal cell carcinoma
Squamous cell carcinoma
Melanoma
Patients may also manifest with oral, ophthalmologic, and neurological manifestations of the disease.
Xeroderma pigmentosum can normally be decisively diagnosed by measuring the DNA repair factor from skin or blood samples.
The main aim of treatment is total protection from UV light (sun avoidance)
TABLE OF CONTENT
Introduction
Chapter 1 Xeroderma Pigmentosa
Chapter 2 Causes
Chapter 3 Symptoms
Chapter 4 Diagnosis
Chapter 5 Treatment
Chapter 6 Prognosis
Chapter 7 Hyper-pigmentation
Chapter 8 Melanoma
Epilogue
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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A Simple Guide to Xeroderma Pigmentosa, Diagnosis, Treatment and Related Conditions - Kenneth Kee
A
Simple
Guide
To
Xeroderma Pigmentosa,
Diagnosis,
Treatment
And
Related Conditions
By
Dr Kenneth Kee
M.B.,B.S. (Singapore)
Ph.D (Healthcare Administration)
Copyright Kenneth Kee 2022 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 Xeroderma Pigmentosa, Diagnosis and Treatment and Related Diseases which is seen in some of my patients in my Family Clinic.
(What You Need to Treat Xeroderma Pigmentosa)
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.
My diagnosis and treatment capability has improved tremendously from my continued education.
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
Xeroderma pigmentosum (XP)
I was watching a movie called Midnight Sun: The story is about a teenage girl with the genetic disorder, Xeroderma Pigmentosum which stops her from going out into sunlight.
When she gets together with a boy, she struggles to decide whether to inform him about her neurodegenerative disorder or pretend to live a normal life.
In the end she was exposed to the sunlight and died from brain complications of the disease.
What is xeroderma pigmentosum?
Xeroderma pigmentosum (XP) is a very rare a rare autosomal recessive genetic disorder that results due to mutations in nucleotide excision repair.
Xeroderma pigmentosum is produced by cellular hypersensitivity to ultraviolet (UV) radiation, as a result of a defect in the DNA repair system.
The nucleotide excision repair system is able to remove ultraviolet-induced injury to DNA, such as pyrimidine dimers and pyrimidines 6-4 pyrimidones.
The development of xeroderma pigmentosum is caused by the accumulation of un-repaired DNA destruction.
Xeroderma pigmentosum is a skin disorder where a person is:
1. Highly sensitive to sunlight,
2. Prone to premature skin ageing and
3. Prone