Pigment xeroderma (malignant lentigo, reticular
progressive melanosis) is a hereditary skin disease
character, which is expressed in increased sensitivity to
ultraviolet rays and solar radiation. This is very rare
a disease that is congenital and hereditary.
Pigment xeroderma is an obligate disease. I.e
This pathology is a family disease and affects
people who were born as a result of kindred marriages. therefore
cases of pigment xeroderma are usually observed in isolated
populations that live for a long time isolated from the outside world.
This type of isolation is most often associated with a geographic feature.
location or with religious beliefs.
The disease manifests itself in children aged 2-3 years and
caused by high sensitivity to different types of radiation
energy (ultraviolet, radiation). This leads to abundant
skin pigmentation and atrophy.
According to statistics, the disease is very rare,
approximately one patient per 250 thousand inhabitants. More often
the disease is common in the Maghreb countries (north Africa) and in
countries of the Middle East. Pathology develops equally
both among boys and girls. But still
there is evidence that girls suffer from xeroderma pigment
- The reasons
- Symptoms of the disease
- Prognosis and prevention
Pigment xeroderma develops as a result of genetic
anomalies on autosomal recessive type. Cause of disease
lies in the defect of the enzyme ultraviolet endonuclease. Known
that after excessive exposure to UV radiation on the body,
breakdowns occur in the structure of DNA. Ultraviolet endonuclease
finds the affected areas in the DNA and “cuts out” them. Then
The resulting gap is built up with DNA polymerase. So
therefore, the endonuclease together with the exonuclease enzyme
repaired potentially dangerous structural DNA damage. These
enzymes are called – repairing (restoring).
In the body of healthy people after ultraviolet irradiation through
almost all thymine dimers disappear from the DNA over time
(UV-damaged molecules), while people with
endonuclease defect, dimers are not removed at all.
It follows that in patients with xeroderma pigment process
DNA repair does not occur because it is completely absent
ultraviolet endonuclease activity. It becomes clear why
Xeroderma pigment causes skin cancer.
Thus, it is possible to identify the main factors contributing to
development of pigment xeroderma:
- autosomal recessive genetic abnormalities;
- damage to the ultraviolet endonuclease enzyme;
- damage to the exonuclease repair enzyme;
- damage to DNA polymerase;
- increase the number of porphyrins (the amount of pigment in
Symptoms of the disease
The disease makes itself felt in the early years of a child’s life and
always manifested in the summer, when most active
Sun rays. However, cases have been described where the pathology for the first time
manifested in adolescents during puberty and in older people
in old age.
This disease has five stages:
- erythematous stage;
- stage of hyperpigmentation;
- atrophy of damaged skin;
- hyperkeratic stage;
- stage of skin cancer.
The erythematous stage of the disease is the earliest. Symptoms
expressed by swelling, skin rashes and red spots after
sun exposure Sometimes vesicles appear in those areas.
skin that has been exposed to insolation.
Stage hyperpigmentation – the second stage of the disease. is he
characterized by the transition of red spots on the skin in resistant
pigmentation. That is, in place of erythema, pigmented
spots of different shades: from light brown to dark
The next stage is atrophy of damaged skin. Pigmented
skin atrophies due to inflammation, it becomes
dry and thin. Skin atrophy process can lead to
reduction of the contour of the mouth (microstomy) or to the overgrowing of the nostril
canals (atresia), thinning of the auricles and wings of the nose. To that
however, most patients suffer from inflammation of the mucous membrane
The hyperkeratic stage is characterized by the appearance
solid nodules on skin, papillomas, warts, benign
formations. Over time, all these neoplasms become malignant
and lead to skin cancer. For this reason, this pathology is considered
obligate (which is sure to turn into cancer).
The last stage is a malignant skin disease. It
develops, as a rule, after 10 -15 years since the first
aggravations of xeroderma pigment, but sometimes oncologic
the disease develops in the first year of the disease. Malignant
skin diseases such as: melanoma, sarcoma, basalioma are capable
in a short time to put metastases into the internal organs of the patient and
lead to a terminal state.
As the child grows, the disease progresses.
more and more, her symptoms develop even after
short stay in the sun.
Often pigment xeroderma is accompanied by bone degeneration
systems and tissues. Children who have this pathology,
lagging behind in mental development (de Sanctis-Kakione syndrome), they have
growth of bone skeleton is slowed down (Reed syndrome).
Symptoms in the early stage of xeroderma pigmentosa are very similar to
signs of other skin pathologies. For this reason it is important
determine the disease in a timely manner and take the necessary measures to
relief of symptoms.
Diagnosis of the disease is based on histological
research. In the early stages of the pigment xeroderma analysis
shows thinning and inflammation of the upper layer of the epidermis,
increase in melanin pigment cells, collagen breakdown
fibers, skin atrophy. In the final stages – signs
peculiar to skin cancer.
Differential diagnosis is required with the following
- Bazin’s disease;
- poikiloderma Sivatta;
- spotty scleroderma;
- chronic dermatitis.
If the disease is diagnosed at an early stage of development, then
antiprotozoal drugs (antimalarials) are prescribed, which
reduce the sensitization of the skin to ultraviolet radiation.
In order to strengthen the body’s defenses prescribed
immunocompatible therapy, vitamin and mineral complexes.
To relieve inflammation of the skin apply ointment with
corticosteroids and cytostatics.
In order to prevent body sensitization shown
antihistamines and desensitizing drugs.
To protect the skin from the harmful effects of ultraviolet radiation prescribed
sunscreen with high protection factor.
It is necessary to undergo regular check-ups at the oncologist with
purpose of early diagnosis of a malignant process.
In case of the development of De Sanctis-Kakione syndrome, patients undergo
specific treatment under the supervision of a neurologist.
Warty papillomatous neoplasms, which tend to
malignancy, must be treated by cardinal methods –
surgically. This is not only traditional surgical
excision, but also other methods:
- laser therapy;
Laser therapy consists of exposure to a laser beam with
a certain wavelength to the affected skin areas healthy
plots are not affected.
Electrocoagulation is a cauterization of electric current.
affected skin. In this case, cauterization occurs.
blood vessels that feed the neoplasm that completely
eliminates blood circulation.
Cryotherapy is reduced to cauterization of tumors with liquid nitrogen.
The procedure is painless and anemic.
Prognosis and prevention
The prognosis of the disease is unfavorable. Most children do not
live to the age of fifteen. However, with regular
treatment, some patients lived to 50 years.