Xeroderma Pigmentosum
This disease is rare.
It was initially discovered in 1874 by Hebra and Kaposi. Worldwide, only one
person with xeroderma pigmentosum is found out of among the 250,000 population.
Japanese people
are more susceptible to it than residents of other countries. Generally,
xeroderma pigmentosum is diagnosed by a doctor when the patient is 1-2 years
old.
XP is a
genetically inherited disease. If one parent has this skin disorder, then his
child will most likely also experience it.
This disease is
related to cancer. More than half of cases of xeroderma pigmentosum turn into
malignant melanoma and squamous cell carcinoma. This causes almost half of
people with this disease to die by the age of about 20 years.
Causes of Xeroderma Pigmentosum
Xeroderma pigmentosum occurs due to DNA damage. DNA damage is
thought to occur due to exposure to ultraviolet radiation to the skin. In
addition, genetic factors play a role in the occurrence of xeroderma
pigmentosum disease, namely the GG-NER and TC-NER genes.
Diagnosis of Xeroderma Pigmentosum
To confirm the
diagnosis of xeroderma pigments, your doctor will perform a skin biopsy and
examine it under a microscope. In addition, to find out the cause, a genetic
examination can also be done.
Symptoms of Xeroderma Pigmentosum
Skin sufferers of
xeroderma pigmentosum are very susceptible to burning when exposed to sunlight.
Usually, sufferers of this disease experience burn on the skin repeatedly.
Xeroderma
pigmentosum disease develops in three stages. At first, at birth, skin looked healthy. The first stage of
abnormalities usually appears when the patient is 6 months old. The skin begins
to look red, easily peels, and appears brownish or black spots, especially on
the face area. Over time, the skin on the face, neck, and lower legs begins to
look more tanned.
The second stage
is characterized by the presence of poikiloderma. Poikiloderma is a skin
disorder characterized by new blood vessels that
resemble worms (telangiectasis). The skin can be brown or white, and blood
vessels under the skin are clearly visible.
The third stage
is when xeroderma turns into skin cancer, such as squamous cell carcinoma or
malignant melanoma. Squamous cell carcinoma is characterized by sores on the
skin that never heal. Meanwhile, malignant melanoma is characterized by
mole-like lumps that get more significant, have uneven edges, and are asymmetrical.
This skin cancer usually occurs in areas of the skin exposed to a lot of
sunlight, for example, on the face.
About 80% of
sufferers of xeroderma pigment also experience eye irritation and the formation
of connective tissue in the cornea.
Xeroderma Pigmentosum Treatment
Treatment of
xeroderma pigmentosum is done by skin and genital specialist. The primary
purpose of therapy is to prevent the occurrence of skin cancer in sufferers.
To reduce the
risk of skin cancer, people with xeroderma pigmentosum are encouraged to always
use sunscreen when going out of the house. The recommended sunscreen has at
least a sun protection factor (SPF) of 15. The use of sunscreen is done in
the summer and when it rains, and in winter. In addition, it is also
recommended to wear clothes with long sleeves and trousers if you want to
travel.
In addition, oral
retinoid drugs have also been shown to lower the risk of skin cancer. But the
use of this drug should be done very carefully considering the side effects are
quite a lot.
If cancer occurs,
then the treatment should be done as early as possible. Cancer treatment is
done by performing excision surgery (removal of all tumor tissue). When cancer
is found in an advanced stage, chemotherapy and radiation are also needed.
Prevention of Xeroderma Pigmentosum
No action has
been taken to prevent xeroderma pigmentosum.
