Kenneth Kee

A Simple Guide to Xeroderma Pigmentosa, Diagnosis, Treatment and Related Conditions (eBook, ePUB)

• Format: ePub

Produktbeschreibung

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 45 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
C...

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Produktdetails

• Verlag: Kenneth Kee
• Erscheinungstermin: 2. Februar 2022
• Englisch
• ISBN-13: 9781005400460
• Artikelnr.: 75904526

Autorenporträt

Dr. Kenneth Kee is a well-known medical doctor from Singapore who has been practicing medicine since 1972.
He graduated from the University of Singapore and furthered his studies with a Master of Science in Health Management in 1991, followed by a Ph.D. in Healthcare Administration in 1993.
Dr. Kee established Kee Clinic in 1974, located in the Holland Drive area of Singapore. The clinic has been a prominent feature of the community, offering general medical services for 5 decades.
Dr Kee also served his country Singapore as a national service police Inspector at night from 1975 to 1985 while working at his clinic during the day.
He had served as a police guard to the Woodland Petroleum Tanks at night during the Indonesian Confrontation period, took part in police rounds at night in the Beach Road area and taught First aid and emergency resuscitation to Police recruits.
He received the Singapore Police Bicentennial 2020 Medallion on 1st March 2024 as recognition for his work in the Singapore Police.
Even as he grew older, Dr. Kee continued to work actively in his clinic, although he eventually reduced his consultation hours.
Beyond his medical career, Dr. Kee is also an author.
He started writing about medical conditions in 2007, using blogs and other online platforms to share his knowledge with a broader audience.
Over time, he published various books, many of which provide simple and accessible guides to different health conditions.
His works include "A Family Doctor's Tale," "My Personal Singapore History," and numerous medical guides, available through platforms like Amazon.
His books often combine his personal experiences as a family doctor with insights into Singapore's healthcare system and history.
Dr. Kee has written extensively on health topics, contributing to both medical literature and general knowledge resources.

Dr. Kenneth Kee has written numerous books, primarily focused on health education and personal experiences as a family doctor. Some of his notable titles include:
"A Family Doctor's Tale"
This book is a blend of Dr. Kee's personal experiences and his reflections on being a family doctor in Singapore. It's a great choice if you're looking for a narrative that combines both medical knowledge and human stories.
"Specialized Medical Conditions"
Books like **"Congestive Heart Failure: Diagnosis and Treatment"** focus on specific conditions, offering in-dept...