Ichthyosis congenital, vulgar, harlequin -severe skin disease

Update: December 2018

87% of all congenital skin lesions are ichthyoses. it
diseases that cause mutations in epithelial genes, due to
which disrupts its normal structure. They can manifest themselves
different symptoms, but there is a symptom that unites all forms –
increased keratinization and peeling of the superficial layers of the skin. Treatment
Ichthyosis remains a challenge for modern medicine. but,
Currently, there are techniques that allow to improve
quality of life of patients (including infants).

AT редких случаях, ихтиоз кожи может возникнуть у взрослого
person This is usually due to the presence of another serious
diseases that disrupt the body. Diagnosis and treatment
older patients will not have principled
differences

Skin with ichthyosis

The human epidermis has a complex structure – it consists of 5
layers. The deepest is represented by stem cells that
divide and give rise to all the other cells of the epidermis. Most
superficially horny layer. It is represented by scales –
former cells that have undergone partial disintegration and
keratin filling (protein, giving strength)

AT норме, стволовая клетка превращается в роговую чешуйку за 21
day.

With ichthyosis, the normal cell cycle is disturbed. By
increasing keratin and reducing cell life
all layers, excessive formation of horny scales occurs.
The surface layer (horny) significantly increases in thickness and
actively exfoliated. ATо всем эпидермисе происходят дистрофические
processes, due to which the skin is unable to provide protective
function.

Causes of congenital ichthyosis

Any congenital ichthyosis occurs due to mutations – changes
normal structure of genes. it приводит к нарушению создания
proteins, enzymes and other substances responsible for education
horny layer. The reliable reason for their occurrence is not clear, however
identify the following adverse factors:ихтиоз кожи лечение

  • Burdened genetics of parents – the presence of a pedigree or
    children of any hereditary diseases (patau, down syndrome,
    Shereshevsky-Turner, congenital deformities, ichthyosis, etc.);
  • ATредные привычки родителей: употребление алкоголя (особенно
    dangerous – during gestation and 6 months before
    conception), smoking and substance abuse (the same period), drug addiction
    (regardless of duration and dose);
  • The presence of chronic infections in the organisms of both parents (not
    only genital but also somatic diseases: pyelonephritis,
    gastritis, hepatitis and others);
  • Any contact with products of harmful production (increased
    radioactive background, work in production, emissions of heavy metals
    в атмосферу и etc.).

Any adverse effects that affect parents,
reflected on their children. Equally important in this case are
organisms, both father and mother. Therefore, the cause of ichthyosis should
look for it in the family of the child.

Forms of congenital ichthyosis

ATыделяют две большие группы ихтиозов, в зависимости от времени
onset of symptoms and location of the mutation:

  1. Ichthyosis of newborns (linked to the female sex chromosome)
    – these forms begin to develop in the child in utero, therefore
    He is born with already changed skin. Overwhelming majority
    patients are boys, and the disease is inherited from mothers. To this
    group include:

    • lamellar ichthyosis;
    • ichthyisoform erythroderma;
    • буллезная ichthyisoform erythroderma;
    • ichthyosis harlequin.

    More on the differences between these forms will be covered in the chapter on
    symptoms of the disease;

  2. Deferred ichthyoses (the mutation is on non-sex chromosomes)
    – the first symptoms of the disease begin to appear after 2-12 months.
    They flow much easier than ichthyosis in newborns and
    slightly reduce the quality of life of patients. To this группе
    applies only vulgar ichthyosis.

Different forms vary significantly in symptoms and course.
diseases. As a rule, it can be determined by external signs, with
the first days of ichthyosis. it позволяет своевременно выбрать
tactics of child care and start treatment.

Symptoms of congenital ichthyosis

What does ichthyosis in newborns look like?

At birth, a child with ichthyosis seems to be “packed” in dense
film, light brown. it состояние обозначается
the term “collodion fruit”. After a certain time (from
a few hours to a week) the film starts to go off, after which
следует наблюдать за состоянием кожи baby

There are four options for how ichthyosis will manifest in
newborn later. The symptoms of each form are so much
specific, that the diagnosis can be made after the usual examination
baby We give the most characteristic signs for each of
them:

Form of ichthyosis Characteristic external signs
Lamellar
  • ATыраженная стянутость кожи;
  • ATеки и губы младенца вывернуты кнаружи;
  • Deep cracks form between large horny scales.
    These areas are constantly getting wet, as they freely pass through them.
    extracellular fluid;
  • On the palms and feet – deep cracks between the thick
    scales.
Ichthysioform erythroderma
  • A child is born in a “film”, which soon begins to dry,
    crack and separate;
  • The skin has the appearance of burned – it is bright red, with minor
    peeling foci;
  • There is a tightness of the skin on its surface with age.
    silver stripes are formed;
  • In some patients, the ears become irregular.
Bullosa Ichthysioform Erythroderma It appears the same as the previous form. The difference is
additional formation of blisters and ulcers on the skin.
Harlequin syndrome The heaviest and rarest form among all ichthyosis.
Appears:

  • Significant thickening of the stratum corneum of the epidermis throughout
    body surfaces;
  • Flipping eyelids, lips;
  • Deep cracked skin, like open wounds;
  • Reducing the size of the head of the newborn –
    microcephaly.

With age, the severity of symptoms somewhat decreases
(exception – harlequin syndrome). The skin gets normal color,
but its tightness and excessive flaking remains. When laminar
In the patient’s form, one can observe silver bands which
persist for life.

Symptoms of vulgar (delayed) ichthyosis

The first signs of the disease in children begin to appear, in
on average, 2-12 months after birth. Characteristic beginning
ichthyosis in winter. Symptoms are much less pronounced than
with other forms. It is characterized by the following manifestations:

  • Increased peeling of the skin over the entire surface of the body, except for the face,
    popliteal and axillary fossa;
  • The palms and soles acquire a distinctive look – significantly
    skin pattern is enhanced, the grooves on their surface deepen,
    skin tone is reduced. Doctors figuratively call them “senile
    palm / foot “;
  • As a rule, at the hips and shoulders horny
    layer separate small foci. If you hold your hand on
    the surface of the skin in these places, it will have a ribbed
    structure.

For ichthyosis vulgaris alternation of exacerbations with
periods of well-being. Symptoms are worse in winter,
decrease somewhat in spring and summer.

Acquired forms of ichthyosis

In addition to congenital ichthyosis, there is an acquired form of this
diseases. The main reasons for its development are:

  • Vitamin A deficiency responsible for normal
    skin function;
  • The presence of a malignant tumor and the development of paraneoplastic
    syndrome is a condition in which immunity begins
    �“Make mistakes” and attack the healthy cells of the body (in this case,
    skin);
  • Alcohol ichthyosis – arises due to malnutrition of the skin and
    damage to blood vessels.

Acquired ichthyosis is generally not life-threatening and
manifested by a small number of symptoms: increased desquamation,
increased skin pattern of the palms and feet, the presence of cracks. Main
the method of treating this form is to eliminate the cause of the disease (destroy
swelling, compensate for vitamin deficiencies, etc.). With his
inefficiency, the therapy is the same as for congenital
ichthyosis

Ichthyosis treatment

It is important to note the next point – get rid of this disease once
and forever impossible. Patients should control its course with
using medicines and a certain lifestyle. Fortunately for
treatment of ichthyosis of the skin of any form (with the exception of – syndrome
harlequin) developed effective techniques to eliminate
most unpleasant symptoms.

General therapy

At the birth of a child with collodion syndrome, his
immediately placed in a special incubator, which creates
a certain level of humidity (usually elevated) and
temperature From the first day of life of an infant with ichthyosis skin,
prescribe the following groups of drugs:

  1. Hormones-glucocorticosteroids (GCS) – it’s not completely clear why
    hormones have a positive effect on the course of ichthyosis. but
    in clinical studies, their effect has been fully proven.
    For treatment, most often, use prednisone, hydrocortisone.
    The average duration of the course is 4-7 weeks, after which
    the dose begins to be gradually reduced;
  2. Vitamin A – this drug improves the metabolism in the skin and
    stimulates the formation of intercellular substance. Dose and form
    doctors choose medications individually, but most often use
    short courses (up to 2 weeks). Vitamin A preparations are available in
    active form, called Retinol / Retinol acetate. With allergies
    it can be used as an alternative medicine
    Acitretin;
  3. Antibiotics – the question of prescribing antimicrobials
    is solved individually for each patient. As a rule, their
    recommend to receive when the child has a high probability
    attach an infection;
  4. Intravenous electrolyte and protein supplements
    solutions (albumin) – are needed to improve the overall condition.
    As a rule, infants in the umbilical
    vein.

During exacerbations of ichthyosis, the treatment is carried out on a similar
scheme. For each patient, the doctor adjusts the recommendations –
removes antibiotics or intravenous fluids from prescriptions,
complements therapy course additional vitamins (PP,
AT1, AT6) и т.д. General treatment is carried out before
get a good effect, in the form of a reduction in symptoms.

Local treatment

This is an integral part of the treatment of any form of ichthyosis. Because
the superficial layer of the skin is affected, the easiest way to affect
on it – apply the drug in the form of an ointment or cream. At present
time, use a combination of the following groups of drugs:

  • Ointment based on 2% urea (Uroderm);
  • Vaseline;
  • Lanolin;
  • Emolents (Atoderm, Topikrem, Foretal, etc.) – these substances are not
    are drugs and are approved for use in newborns;
  • Dexpanthenol;
  • Local hormones GKS (Elokom, Diprosalik, Akriderm, Belosalik and
    etc.).

Older patients can additionally be recommended.
ointment with 2% salicylic acid, which reduces peeling of the skin.
but эти препараты противопоказаны детям до 3-х лет. At present
time, they are used quite rarely, replacing emolentami.

Physiotherapy

Ichthyosis therapy in children should not be without
physiotherapy. The best methods are ultraviolet irradiation and solar
baths, no longer than 30-40 minutes. These procedures stimulate the exchange
substances in the cells of the skin and reduce the severity of flaking. Treatment
older patients can be supplemented by regular visits
турецкой или русской бани (температура не выше 55оС),
regular visits to resorts (at least 1 time per year) with marine
air and warm climate.

Features of child care with ichthyosis

Typically, the newborn patient is in an incubator around
2-4 weeks. At this time, active therapy for ichthyosis.
It is important that after the subsidence of acute events and discharge the child home
parents provided him the right care. List the principal
provisions:

  1. Точно соблюдать назначения доктора. Even on an outpatient
    stage it is necessary to continue treatment. Most often it is
    applying medicinal ointments, creams or emollients;
  2. Следить за состоянием кожи ребенка. The best indicator
    The patient’s condition with ichthyosis is his skin. It is important not to miss
    period of increased desquamation, signs of inflammation
    (reddening of the skin, increasing the local temperature, edema,
    formation of pustules), causeless anxiety of the infant.
    Especially these signs are significant in the winter when high
    the likelihood of an exacerbation;
  3. Do not injure the skin of the child. Because функция эпидермиса
    broken, the child’s skin is more prone to various injuries. Any
    the wound is the entrance gate for infection. If possible, they should
    to avoid, and if it was not possible to treat with 0,005% Chlorhexidine,
    or another antiseptic that the doctor will recommend;
  4. Do not use diapers with a rough surface, shawls, hard
    blankets and any other laundry that may irritate the baby’s skin.
    This will cause severe itching and anxiety.
    baby

Feeding and physical activity of these children should not
differ from their peers. This will allow them in the future to take
your disease and become a full part of society.

Forecast

With all forms of ichthyosis, with the exception of harlequin syndrome,
favorable prognosis. In most cases, the disease does not
affects the way of life of patients, in a timely manner
therapy. During life, there will be periods of exacerbations (more often
in winter) and normalization of the skin condition. At the time of exacerbation
It is important to conduct adequate treatment.

Harlequin ichthyosis usually ends in the death of a child.

Prevention

Knowing the factors of mutation, you can significantly reduce the risk
the occurrence of ichthyosis in your child. Having planned the future
pregnancy, eliminating adverse effects on your body and
regularly controlling its flow, you protect your child from
most congenital diseases.

What needs to be done in the framework of pregravid preparation
(before pregnancy)?

  1. Both parents visit a health center / clinic to
    to identify the focus of chronic infection (untreated pyelonephritis, cystitis,
    gastritis, etc.) or ensure its absence;
  2. Expectant mother to visit female consultation, to pass inspection
    gynecologist and pass the necessary tests. The goal is to identify the pathology
    cervix, endometritis, vaginitis and other generic diseases
    pathways, hormonal regulation disorders;
  3. If there have been cases of birth of children with chromosomal / gene
    mutations, you should contact the center of medical-genetic
    counseling. He is in every region, but, unfortunately, part
    analyzes will have to perform a fee;
  4. Eliminate alcohol, drugs and smoking at least
    six months before the onset of pregnancy;
  5. If necessary, take folic acid, iodine preparations and
    any other medications necessary for the treatment of chronic
    diseases. It is important to achieve remission of these pathologies.

These simple recommendations will reduce your risk by 95%.
the formation of congenital diseases in a child. During pregnancy,
should be monitored regularly in the antenatal clinic and visit all
Ultrasound screening (first in 10-14 weeks; second in 20-24 weeks; third
in 30-32 weeks). This will assess the intrauterine state.
fetus and возможное наличие у него врожденных diseases. Ultrasound can
repeat, if necessary, any number of times, since its
safety for the child and mother is proven by many clinical
research.

The disease, especially congenital, is easier to prevent than
to heal. You should not suffer the suffering of yourself and your future.
child, as the modern level of medicine allows, with
the desire of parents to avoid it.

Frequently asked questions from patients

ATопрос: Передается ли ихтиоз по наследству?

Yes, however, regularity is sometimes quite difficult.
to trace. At the birth of a boy with ichthyosis, the probability is high
repeated case of illness in the family. If ichthyosis is delayed,
predicting the recurrence of pathology is much more difficult.
Medical Genetic Services can help.
counseling.

ATопрос: Form of ichthyosis как-либо влияет на лечение?

Yes, depending on the form, the classical
scheme. For example, with harlequin syndrome, GCS doses increase, and
with the bullous form, antibiotics are almost always prescribed.
but эти нюансы определит лечащий врач в индивидуальном
okay

ATопрос: Что делать, если УЗИ показало, что у
child will ichthyosis? Can you believe this?

The probability that the ultrasound gave the correct result 92-95%. AT
In this case, the decision is made only by the parents, after the explanation
doctor of all possible options. They can, like to leave a child,
and abort the course of pregnancy at any time.

ATопрос: Какое побочное действие имеют препараты
for the treatment of ichthyosis?

AT клинической практике, с побочным действием лекарств для
external use almost never occur. Can say that
they are safe. Because гормоны назначаются пациентам с ихтиозом
short course only, persistent immunity reduction or syndrome
Itsenko-Cushing (hypercortisolism) also do not have time to develop.

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