Skin Ichthyosis (congenital, Vulgar, Harlequin) - What Is It? Symptoms And Treatment

2024 Author: Josephine Shorter | [email protected]. Last modified: 2024-01-07 17:49

Ichthyosis of the skin: forms, symptoms and treatment

What is ichthyosis?

Ichthyosis is a skin disease that has a lot in common with dermatosis. Pathology is acquired hereditarily and is characterized by a uniform violation of keratinization and the appearance on the surface of the body of scales similar to fish.

Of all congenital skin diseases, ichthyosis accounts for about 87% of pathologies. In this case, mutations occur in various genes of the epithelium, which leads to a change in its structure. The symptoms of the disease can be very varied. However, regardless of the form of ichthyosis, there is a single symptom of the disease - increased keratinization and peeling of the upper layer of the dermis.

Despite the high development of medicine, the treatment of ichthyosis is a difficult task that faces a doctor. Although scientists have already been able to develop therapeutic regimens to improve the quality of life of such patients. Babies can also receive treatment.

Ichthyosis in adults is very rare. This is due to other serious illnesses. Treatment regimens for adults do not differ from those for children.

Content:

• The causes of ichthyosis
• Forms of congenital ichthyosis
• Symptoms of congenital ichthyosis
• Treatment of ichthyosis
• Forecast
• Prevention of ichthyosis
• Answers to popular questions

The causes of ichthyosis

Causes of congenital ichthyosis

Gene mutations are the cause of all congenital ichthyosis. Protein compounds, enzymes and other substances that take part in the formation of the dermis are produced with certain disorders.

Until now, the exact causes of gene abnormalities are not known, but scientists have identified some risk factors for the development of ichthyosis, including:

• Hereditary predisposition. The likelihood of developing ichthyosis is higher in the presence of such pathologies in a family history as: Down syndrome, Patau syndrome, Shershevsky-Turner syndrome, etc.
• Bad habits of parents, for example, drinking alcohol by a pregnant woman, smoking, substance abuse, drug use.
• Chronic diseases in parents. Various infectious processes are important, for example, pyelonephritis, hepatitis, gastritis, etc.
• Exposure to harmful factors on the body: radiation, polluted air, heavy metals, etc.

All harmful factors that affect parents can affect the child's health and lead to the development of ichthyosis in him.

Causes of acquired ichthyosis

Sometimes ichthyosis develops during life.

The reasons may be as follows:

• Vitamin A deficiency in the body.
• Malignant tumors with the development of paraneoplastic syndrome. The patient's immune system begins to develop immune complexes against his own skin and destroy it.
• Ichthyosis against the background of alcoholism. The blood vessels are destroyed, the skin does not receive normal nutrition, which causes the development of the disease.

Ichthyosis, which develops during life, does not pose a threat to human health. Its symptoms are not as pronounced as in congenital forms of the disease. The skin of such people is prone to increased peeling, the skin pattern will be strengthened in the area of the feet and palms. You can cope with the disease if you identify the cause of its occurrence. When etiotropic treatment does not allow achieving positive results, therapy is carried out according to the same scheme as in congenital forms of the disease.

Forms of congenital ichthyosis

Depending on the timing of the onset of the disease and on the site of the mutation, such types of ichthyosis are distinguished as:

1. Ichthyosis of newborns. Mutations occur on the female sex chromosomes. The disease begins to develop even during the period when the child is in the womb. He will be born with symptoms of the disease. Most often, male infants suffer, and they receive the mutated gene through the female line.

   These types of ichthyosis include:

   • Lamellar.
   • Erythroderma is ichthyosiform.
   • Erythroderma bullous ichthyosiform.
   • Harlequin ichthyosis.

2. Ichthyosis, delayed in time. The mutation occurs on the non-sex chromosomes. For the first time, the disease manifests itself after 2 months - 1 year after the birth of the child. The disease has an uncomplicated course compared with ichthyosis of newborns. Vulgar ichthyosis refers to a pathology delayed in time.

Depending on the form of the disease, the symptoms of the disorder will differ.

Symptoms of congenital ichthyosis

The child is born "packed" in a light brown film (colloidal fetus). After a few hours or days, the film comes off.

In the future, the disease can proceed in 4 types. The symptoms are pronounced, so the diagnosis of a specific form of pathology is not difficult:

1. Lamellar ichthyosis:

   • The skin is tightly tightened.
   • The baby's eyelids and lips are turned outward.
   • Large corneous particles are separated by cracks. They are deep, they get wet all the time, a transparent intercellular fluid appears from them.
   • The feet and palms are covered with thick skin scales, which are separated by cracks.

2. Ichthyosiform erythroderma:

   • After birth, the baby is covered with a film that dries quickly, cracks and leaves.
   • The skin looks like the baby has been burned. It is flaky and red in color.
   • The skin is tight. As the child grows up, stripes of silver appear on it.
   • The baby's ears are irregular. However, this symptom does not appear in all patients.
3. Bullous ichthyosiform erythroderma. This form of the disease manifests itself in the same way as ichthyosiform erythroderma, but among other things, ulcerative defects and blisters appear on the skin.

4. Harlequin syndrome:

   • This type of disease is the most difficult and life-threatening for a child. The stratum corneum thickens over the entire surface of the body.
   • The baby's lips and eyelids are twisted.
   • The cracks are very deep, they look like wounds.
   • The head of the newborn is reduced in size.

As the child grows older, the symptoms of the disease become less intense (unless he is diagnosed with harlequin syndrome). The skin becomes normal in color, but remains tight and flakes all the time. If a patient develops a laminar form of pathology, then the silvery stripes on it persist throughout life.

Symptoms of ichthyosis vulgaris

The disease makes itself felt 2-12 months after the birth of the child. The pathology manifesto falls on the cold season.

The symptoms of ichthyosis are as follows:

• The skin flakes off on the trunk. This process does not involve the face, popliteal and armpits.
• On the palms and on the soles of the feet, the natural pattern is enhanced, the furrows become deep, the tone of the dermis is weakened. This makes the baby's feet and palms look senile.
• On the hips and shoulders, areas of compaction appear, which will be represented by tubercles.

From time to time, the disease will worsen and subside. In the cold season, the symptoms of pathology intensify.

Treatment of ichthyosis

It is impossible to cope with the congenital form of ichthyosis forever. A person will need to constantly monitor their health. To do this, he will need to take medications and make certain adjustments to his lifestyle. All forms of pathology, except for the harlequin syndrome, lend themselves well to symptomatic correction.

General therapeutic measures

If a child is born in a film, then he is placed in an incubator. The required level of humidity and temperature is maintained there.

Immediately, the infant should receive medications such as:

• Glucocorticosteroids. There is no exact data as to why these drugs have a positive effect on the health of patients with ichthyosis. However, their effectiveness is proven. The drugs of choice are Prednisolone or Hydrocortisone. Treatment should continue for 4-7 weeks. Then the dose of drugs is gradually reduced.
• Vitamin A. It regulates metabolic processes in the skin, promotes the production of intercellular substances. The course of admission is 14 days, but at the discretion of the attending physician, it can be changed. The vitamin is marketed under the name Retinol Acetate. If a child develops an allergy to him, then he is prescribed Acitretin.
• Antibiotics. They are prescribed in the case when there is a high probability of a bacterial infection.
• Electrolytes and albumin given intravenously. They improve the general well-being of the patient. For newborns, drugs are delivered into the umbilical vein.

When the disease worsens, the therapy is repeated with all medicines. The doctor can remove antibacterial drugs from the scheme, or intravenous infusion, introduce other vitamins.

Local impact

Local therapy cannot be dispensed with.

For this purpose, various creams and ointments are used, for example:

• Uroderm with urea 2%.
• Petrolatum.
• Lanolin.
• Atoderm, Topikrem, Foretal and other emollients. These products are not classified as medicines, so they can be used to treat newborn babies.
• Dexpanthenol.
• Creams and ointments with a hormonal component: Elokom, Akriderm, Belosalik, etc.

Adult patients can be prescribed preparations containing salicylic acid at a concentration of 2%. They are not prescribed for children under 3 years of age.

Physiotherapy

UFO, sunbathing (no more than 40 minutes) help to reduce the symptoms of the disease. These procedures stimulate the metabolic processes of the dermis, reduce the intensity of peeling. Older people can visit the bathhouse (the air temperature should not exceed 55 ° C), travel to seaside resorts.

Caring for children with ichthyosis

The baby will be in the incubator for 2-4 weeks. During this time, he receives all the necessary treatment.

Once discharged home, parents should provide the following care for the infant:

• Strictly follow all medical recommendations. Treatment must continue at home. You will need to use special creams and ointments. Processing should be regular.
• Monitor the baby's skin condition. It is impossible to ignore periods of intense peeling, it is important to eliminate all elements of inflammation in time, monitor the baby's body temperature, etc. This will allow not to miss periods of exacerbation of the pathology and take the necessary measures in time.
• Injury to the child's dermis is unacceptable. The skin of a baby with ichthyosis is more susceptible to trauma than the skin of a healthy baby. Pathogenic microorganisms can enter through the wounds. Therefore, if the injury did occur, it is necessary to treat the skin with a solution of Chlorhexidine with a concentration of 0.005%, or with another antiseptic.
• It is forbidden to use stiff wool or synthetic fabrics. This applies to underwear and bedding. Such materials will irritate the baby's skin, provoke itching and exacerbation of the disease.

Otherwise, the life of a child will not differ from the life of healthy children. In the future, such children will become full-fledged members of society, despite their illness.

Forecast

All forms of the disease, except for harlequin syndrome, have a favorable course. The disease does not affect the quality of human life if the child receives adequate therapy from early childhood. In winter, people experience exacerbations, after which the skin returns to its normal state. During relapse, you need to receive adequate therapy.

Harlequin syndrome in most cases ends with the death of the child.

Prevention of ichthyosis

To reduce the likelihood of developing ichthyosis in an infant, the following recommendations must be followed at the stage of pregnancy planning:

• Parents should visit doctors, identify and treat all chronic pathologies.
• The woman should be seen by a gynecologist. She will need to be tested and get rid of all existing diseases.
• If earlier children with genetic diseases were born in the family, then you need to visit genetics and pass all the tests that he prescribes.
• 6 months before the upcoming conception, you need to stop taking alcoholic beverages, drugs, tobacco.
• The doctor may recommend taking folic acid, iodine supplements, etc.

Compliance with these recommendations can reduce the likelihood of developing ichthyosis in a child by 95%. During gestation, a woman should be registered with a gynecologist, undergo ultrasound and screenings. Disease is easier to prevent than to cure.

Answers to popular questions

• Is ichthyosis a hereditary disease? Yes, but it is difficult to say exactly how and when the transmission of pathology will occur. If a male baby with ichthyosis was born in a family, then the likelihood of a reappearance of a baby with a similar disease is extremely high. If the pathology has developed in a delayed period, then it is difficult to make any prediction. A must visit genetics.
• Does the treatment depend on the form of ichthyosis? Yes. So, with harlequin syndrome, the doses of hormonal drugs are increased. Bullous disease requires antibiotics. The doctor will help determine the therapy.
• During an ultrasound scan, the doctor revealed ichthyosis in the fetus. How to proceed? The probability of a correct diagnosis is 92-95%. The decision remains with the parents.
• What are the side effects of ichthyosis drugs ? We can say that most medicines are safe. Hormonal agents are prescribed for a short time, so they do not have time to affect the state of the immune system.

Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist

Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".