The Genetic Disease Named Alopecia Areata

Earl Abayan
3/24/08
Period 1
 Introduction
A genetic disease is different from those caused by bacteria, viruses, or other organisms
because genetic diseases usually involve the misplacement or the improper function of a gene,
chromosome, or other factors that can be lead to a genetic disorder. Viruses or bacteria only
cause viral infections that are simple sickness such as colds or fever, but viruses can cause severe
mutations such as cancer to any part of the body. Bacterial and viral infections may only be
temporary and will soon fade away but genetic disorders are usually permanent and may cause a
tremendous amount of damage to a person’s physical and mental abilities. Although some viral
infections, such as cancer, can cause an incredible amount of problems for a human body and is
caused by an abnormality in uncontrolled division of the tumor cells, genetic disorders are
equally destructive but these disorders are usually caused by the genetic information, or genes,
having an irregular formation that can cause different types of genetic disorders. There are
different ways of getting a genetic disease in your life. Some genetic disorders are caused by an
abnormality in autosomal chromosomes in which there are more or less than the normal number
of chromosomes in one chromosome number or different types of genes in corresponding
chromosomes, resulting in an improper function of a gene. Another way is by sex-linked or X-
linked genes when the gene coding for the genetic disorder is carried on the X chromosome,
which makes the female individual the carrier of the disease, but this process mostly affects
mostly male individuals and very few female individuals. Both autosomal and X-linked
processes are called single-gene genetic disorders that are caused by mutations in the DNA
sequence of one gene. Another type of genetic disorder is a multifactorial gene that is caused by
a mixture of environmental factors and mutations in multiple genes. The third type of genetic
disorder is a chromosomal gene where chromosomes line up into a different chromosome
number, or translocation, resulting in a specific type of disease. The final type of genetic disorder
is mitochondrial gene where mutations occur in the nonchromosomal DNA of the mitochondria.
These are the four different and distinct types of genetic disorders.

History of Alopecia Areata

Alopecia areata, translated as “fox’s disease,” was first observed by Cornelius Celsus in
30 A.D. Celsus described that there are two types of Alopecia areata. The first form was
complete baldness that occurs in both sexes and in all age groups. The second form was called
“ophiasis,” which is translated as “snake,” because of the winding path the baldness takes place
on the body and it can occur only in children in both sexes. Alopecia areata is sometimes known
as “area celsi” in tribute to Cornelius Celsus. There were many debates about how Alopecia
areata and two main hypotheses were on a parasitic infection or a nervous disorder. The parasitic
hypothesis was drawn because of how the hair loss developed. It slowly expands in size just like
an infection would, but many attempts to isolate an infective organism and to transfer Alopecia
areata by inoculation didn’t work. The initiation of Alopecia areata by a nervous disorder was
much more powerful and convincing than the parasitic hypothesis so it was currently used by
most dermatologists. The hypothesis was supported by the frequent clinical observations that
emotional and physical stress are connected with the cause of Alopecia areata and these stresses
were often recorded in medical journals. These types of stresses were believed to damage the
hair follicles, which are intervened with the nervous system. The hypothesis is still currently on
debate today, but the most widely believed observation is that Alopecia areata is an autoimmune
disease which means that a person’s own immune system accidentally harms his or her own
tissues as a foreign substance an indistinctively attacks and attempts to destroy the tissues. In
Alopecia areata, white blood cells accidentally attacks the hair follicles in the body, but does not
destroys the entire tissue. This is still unclear and powerful and convincing supports are being
observed, but one factor is for certain, anyone in any age groups and in any sexes can inherit the
genetic disease.

Inheritance Pattern
In Alopecia areata, anyone can inherit the genetic disorder. If both parents are both
normal, then there is still a chance that their son or daughter might get the disease because
Alopecia areata is an autoimmune disease therefore it depends on the immune system of the
individual and not on the alleles or chromosomes of any parent. If both parents have Alopecia
areata, the individuals might have a higher risk of inheriting the disorder themselves. But this
genetic disorder is dependent on the individual, which means that it is not found on any
chromosome, it is by random chance that you inherit the disease, and it can occur in the most
unexpected times.

Symptoms
Several symptoms of the disease are losing patches of hair or not growing any sign of
hair anywhere on the body. Hair patches may form in the skin of the scalp that makes a visible
representation of Alopecia areata and may occur at the rest of the body. This is a different type of
Alopecia called Alopecia universalis, or total hair loss for the entire body. Although Alopecia
areata is the disease coding for hair loss, it may not affect an individual for as long as days or it
may take years for another effect of Alopecia areata. When the effects of the disease occur varies
for each individual and the immune system may act differently for each occurrence of the
disease.

Life Expectancy
Unlike many other types of genetic disorders, Alopecia areata will not decrease the life
expectancy of an individual who has the disease. A person who has Alopecia areata may have
symptoms of hair loss, but is otherwise healthy in other ways. The immune system’s incidents
have little effect on the age of an individual in the course of his or her life.

Cause of the Disorder

Although still unclear, the most observed cause of the disease is that the individual’s own
immune disease mistakenly attacks the hair follicles throughout the body that cause a slow or no
progress of growing hair. When the immune disease accidentally destroys tissues on the body,
this disease is called an autoimmune disease. There are also other theories of the cause of
Alopecia areata that is still being observed such as that this sickness is caused by stresses that
occur in everyday life such as emotional or physical stresses. There is no difference in genes and
are otherwise healthy in other ways. Although the true cause of Alopecia areata is still unclear,
the permanent cure for the disease is also uncertain.

Cures and Treatments

There are no current permanent medical cures for Alopecia areata and scientists are still
conducting observations and experiment on how to prevent the immune system to mistakenly
attack hair follicles. Alopecia areata patients do use treatments to avoid further occurrence of on-
and-off occurrence of losing hair. Here are some possible treatments used by affected patients:
 • Corticosteroids: powerful anti-inflammatory drugs similar to a hormone
called cortisol that restrain the immune system. It can be administered in three
possible ways: local injections (injections of steroids is applied directly into the
hairless patches on the scalp and may take 4 weeks for new development to become
visible), oral corticosteroids (the anti-inflammatory drugs taken by mouth and has a
higher percentage of side effects, therefore they are only used occasionally and for
shorter periods of time), and topical ointments (ointments or creams containing
steroids that is rubbed directly onto the affected area and is less traumatic and
effective than local injections, so it is preferably used by children).
• Photo-chemotherapy: a treatment used that gives a person a light-sensitive
drug called a psoralen either orally or topically and is exposed to an ultraviolet light
source. Approximately 55% of Alopecia areata achieve cosmetically acceptable hair-
growth in photo-chemotherapy. However, the relapse rate is high and there is a
developing chance that a person might get skin cancer due to excess amount of
ultraviolet light.
• Alternative Therapies: these therapies are used when drug treatments fail
to bring sufficient development of hair re-growth. These alternative therapies include
acupuncture, aroma therapy, evening primrose oil, zinc and vitamin supplements, and
Chinese herbs. Since these therapies are not supported by clinical science, they may
or may not affect the development to re-growing hair. In fact, some therapies might
make hair loss even worse than before.
• Outwear outfits: these include sunglasses to protect the eyes from
excessive sun, and from debris and dust when eyebrows or eyelashes are missing,
wigs, caps, scarves, bandannas, and sunscreen to protect the scalp from the sun and
also to keep the head warm when cold, and antibiotic ointment that is applied inside
the nostrils to help protect against dust or organisms invading when nostril hair is
missing.

Testing or Genetic Counseling

Even though a permanent cure has not been found, researchers are having a better
understanding of the disease every time a new discovery is found and proved. This increasing
improvement will help lead to better treatments for Alopecia areata and eventually a way to
prevent and cure it. Here are some areas of research that may hold promise and may unlock the
key to Alopecia areata cures:
• Developing an animal model: using animals such as mice with the disease that is
closely related to human Alopecia areata, researchers hope to learn more about
how the total process of the disease develops and eventually utilize immune
system treatments for the individuals who is affected by the disease
• Mapping genes: researchers and scientists are still observing the possible genetic
causes and mechanism of Alopecia areata, but no evidence show that the disease
is caused by genes coding abnormally. Mapping genes are used in both families
that have one or more family member who is affected by the individual and in the
general population of Alopecia areata. A better understanding of the genetics of
the disorder will aid on the prevention of the disease, early intervention, and
development of specific therapies for cure and treatments
 • Studying hair follicle development: by studying how hair follicles form in mouse
embryos, researchers hope a better understanding of hair cycle biology that may
eventually lead to cures for individuals who are affected.
• Targeting the immune system: several agents that have been proved to be
effective on psoriasis may prove to be effective on Alopecia areata. These drugs
work by blocking certain chemical messengers that play a major role in the
immune response or by getting involved in the activities of white blood cells that
are involved in the attack of hair follicles in the body.
• Finding better ways to administer drugs: there is one problem that limits the
current topical therapies. That problem is getting the drug source directly to the
source of the problem. Researchers are still looking for substances that can
penetrate the fat under the skin to deliver medication directly to the hair follicles.
In animals, topically synthetic sacs called liposomes seems to be proven effective,
but is still under investigation if it is effective on humans.
• Understanding cytokines: chemical messengers called cytokines play a major role
in the body’s immune response whether it is a normal response or an attack on
foreign invaders such as viruses or bacteria. Researchers believe that giving
certain inflammation-suppressing cytokines, they may be able to regulate and
slow down or abruptly stop the immune system on mistakenly attack hair
follicles.
• Understanding stem cell biology: epithelial stem cells are immature cells that are
responsible for regenerating body tissues, including hair follicles. Stem cells seem
to be unaffected by Alopecia areata, which may explain the potential re-growth is
always possible for people with the disease.

Reflection
Here are some questions that I asked to people who were affected by Alopecia areata.
They answered very truthfully and explained everything with as much accuracy as possible.

1) How does having the disease affect you in everyday life?

2) Even though the disease is not life threatening, what type of fears do you have of having
this disease?
3) Since there is no cure for this disease, what treatments do you use to minimize the
occurrence of alopecia areata?
4) Are there any other types of diseases that usually occur with alopecia areata?
5) What outwear do you use to protect your skin from the vulnerability of the sun?
6) How is your life different from the life of a normal person?

Interview 1: This interview is from a mom named Jennifer Regan who currently has a son
who has alopecia areata. Here are the answers from Will Regan, answered by her mom, since
the 11-year-old boy might feel offended.
1) This disease has profoundly affected William. It has most definitely affected his every day
life in the past 2 years since it's inception at age 9. Will suffered a bout with Pneumonia a month
or so before the alopecia became a noticeable. Since then we have been on a bit of a roller
coaster ride understanding his disease(s). Will has suffered from lethargy, muscle weakness,
severe eczema, in addition to his alopecia. We treated the alopecia with steroid creams, and
very painful steroid injections for over a year and a half. About 6 months ago, I halted the use of
the injections. Results were not forthcoming, and the alopecia has not dramatically increased
either. (About 30-35% hair loss) The eczema continues to be successfully treated at times of
flare-ups with prescription creams.
2) The most troubling thing occurring over a year and a half ago was Will's anxiety/depressive
episodes. We met with several doctors to examine these issues. After being on a small dose of
Prozac for about six months, Will was showing some better coping strategies. Prior to the
Prozac it seems his whole immune system's depression was making him weepy and unable to
cope with small issues. In the end, I really feel it was less psychological, more physiological.
Will was still not able to perform sports even after being on Prozac.
3) His continued uncharacteristic weakness in sports prompted me to seek help from Boston
Children's reumatology department. The doctors at Children's reumatology/immunology/allergy
dept. Agreed with me. In talking with the doctors at Children's here in Boston we now
understand that his immune system had been additionally compromised. About 6 months ago we
learned that will had significant allergies to environmental things such as cats, dogs (we have
2"hypoallergenic"), dust mites, oak, etc. These allergies were affecting Will's system, making
him asthmatic. Since then Will has been on Singular, Abuterol (daily) and Flovent (as needed).
These treatments have improved his life dramatically. We no longer are witnesses to a
lethargic, weak-playing child. They have helped increase his activity levels and allowed Will to
function pretty normally.
4) My husband and I have 2 other children not at all affected by these environmental allergens
or Will's other ailments, so it is really a puzzle for all of us, doctors included. At this point we
are waiting to take some additional blood tests on his thyroid, as many of his thyroid
antibodies six months ago were also out of wack. What affect this will have on Will's treatment
remains unknown. Doctors at Children's will continue to monitor him, but so far we have no
good reason for all of these things hitting him so, and thus, no treatment plan to pursue.
5) Regarding the sun, Will generally wears a baseball hat and sunscreen. He is one of the few
kids allowed to wear one in class. Both at home and school Will is treated the same as everyone
else. There was some teasing initially, but once the kids in school and elsewhere have been
educated, they are quite kind. Academically Will is a very strong learner. His favorite thing to
do, however, sports has been more difficult for Will. He has a harder time keeping up with his
peers (running, agility and skill execution). I think it does still affect his self-esteem, as he used
to be the fastest kid in school. He is no longer on the top soccer team, something that most
definitely disappoints him. We did not discover his asthma until last soccer season was over and
placements had already been made. We reassure him that there's no reason he cannot move back
up. We are working as a family to focus on the victories, and not let the shortfalls define us. Of
course we all hope that Will's alopecia areata does not worsen and become totalis.
6) I hope you don't mind my answering Will's questions, but it's better for him as an 11-year-old
boy if he does not feel defined by this disease. We hope since he has not hit the 50% mark, he
can overcome it and regain his former hair, energy and exuberance for everything. Regardless of
the hair loss, his happiness and confidence is of utmost importance to his father and me. We
want him to see himself as just as capable as everyone else he encounters (as he is). Incidentally
I understand all of Will's issues are possible additional illnesses that can coexist with alopecia
areata & other autoimmune diseases. We live with it, but it does not have to define what we can
(or not) do with our lives.

Interview 2: This interview is from two people named a 9-year-old little girl named
Maddie (red) and her 37-year-old mom named Betsy (green). Both are intertwined with
alopecia but Betsy only has alopecia areata since she was six-years-old while Maddie has
alopecia universalis, the condition where there is no hair on the body, since she was nine-
years-old.
1) Sometimes people stare at me but my dad says to just smile at them and they usually smile
back. I am lucky to go to a small Catholic school and I don’t get teased, but some of my friends
with alopecia do get made fun of at their schools.
My alopecia is not a big part of my life because I rarely get a bald spot that other people can see.
2) The scariest day was when I did not wear a bandana to school I was afraid that my friends
would not think I was the same person and would not want to be my friend anymore.
I have spoken to people who had alopecia areata and later in their life developed alopecia
universalis and lost all of their hair. I do fear that I could one day lose all of my hair.
3) I tried a few things (cortisone creams and shots) that my parents and doctors suggested at first
but they didn't work so I don't use any treatments anymore.
When I was a child I received cortisone shots in my bald spots and they worked well to regrow
my hair.
4) Yes, I also have terrible seasonal allergies and eczema.
I don't have any other diseases, but many people with alopecia do suffer from other autoimmune
diseases.
5) I use sunscreen on my head and the rest of my body.
I have never lost enough hair to worry about the sun.
6) I am normal. I just don’t have hair.
People with alopecia are normal and live normal (and often extraordinary) lives. We have
friends with alopecia who are married, have children, and are happy with successful careers
including, actress, Olympic gold medallist, and stockbroker. These people are inspirational role
models to my daughter and I am so happy that she has met them.
 Bibliography

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http://www.help4alopecia.com/alopecia/what-is-alopecia-areata/

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http://www.naaf.org/default2.asp

Web MD. How is alopecia areata treated? Archives of Dermatology (vol. 134, 1998;1349-52)
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Your Genes, Your Choices (1997) An online booklet about the ethical, legal, and social implications
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Children’s Alopecia Project. An online research on the different factors of alopecia areata. Retrieved
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