General Practice 2022

Ichthyosis: what é, symptoms, causes, types and treatment

Table of contents:

Ichthyosis: what é, symptoms, causes, types and treatment
Ichthyosis: what é, symptoms, causes, types and treatment
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Ichthyosis is a set of dermatological diseases that cause scaling and dryness of the skin, which arise due to changes in the most superficial layer of the skin, the epidermis, causing it to look like a fish scale, and leading to to the appearance of symptoms such as itching, redness or formation of dark spots or plaques on the skin.

There are at least about 20 different types of ichthyosis that can be hereditary, i.e. passed from parents to children, but there are also types that can only arise during adulthood due to he alth conditions such as hypothyroidism, diseases kidney disease or sarcoidosis.

The diagnosis of ichthyosis is made by the dermatologist or general practitioner who can indicate the best treatment according to the type of ichthyosis and severity of the disease, in order to relieve symptoms and avoid complications such as infections or dehydration.

Ichthyosis symptoms

The main symptoms of ichthyosis are:

  • Dry skin with intense peeling;
  • Itchy skin;
  • Fish-like looking skin, which can be white, gray or brown;
  • Presence of many lines on the skin of the palms and feet;
  • Skin cracks;
  • Dark and thick patches on the skin or white and thin, covering most of the body;
  • Blisters on the skin, which can open and form sores;
  • Hair loss or hair loss on different parts of the body;
  • Difficulty closing eyelids;
  • Dry eyes;
  • Decreased sweat production, as scales can clog sweat glands;
  • Heat intolerance;
  • Difficulty hearing due to accumulation of skin scales in the ears;
  • Difficulty flexing some joints, such as the hands.

These symptoms may vary according to the type of ichthyosis and usually appear shortly after birth or during the first year of life, with the skin becoming increasingly dry with advancing age..

Furthermore, skin changes can be aggravated when it is very cold or the weather is very hot, being less frequent in humid and hot places.

How to confirm the diagnosis

The diagnosis of ichthyosis is most often made by the pediatrician, during the child's first year of life, by evaluating the baby's skin appearance and the presence of symptoms. In addition, the pediatrician may order molecular tests to assess the presence of genetic mutations, confirm the diagnosis of ichthyosis and determine its type.

When it appears in adulthood, the diagnosis of ichthyosis is made by the dermatologist, through the evaluation of the skin, symptoms, family history of ichthyosis, and the history of the appearance of the skin at birth.

In addition, the dermatologist may order blood tests that can help detect other diseases that can cause ichthyosis, or even a skin biopsy, in order to rule out other diseases with similar symptoms, such as leprosy or cutaneous xerosis, for example.

Possible causes

Ichthyosis is caused by changes in the most superficial layer of the skin, the epidermis, which is responsible for forming the skin's protective barrier, preventing water loss, and absorbing the sun's UV rays. These changes in the skin are usually caused by genetic mutations, usually inherited from the parents, which is why they are called congenital or hereditary ichthyosis, being present from birth.

However, ichthyosis can also appear throughout life, especially in adulthood, caused by other he alth conditions, being known as acquired ichthyosis.

Types of ichthyosis

The main types of ichthyosis are:

1. Congenital or hereditary ichthyosis

Congenital or hereditary ichthyoses usually present symptoms soon after birth or in the first year of the baby's life, caused by genetic alterations.

The most common types of congenital or hereditary ichthyosis include:

  • Ichthyosis vulgaris: is the most common type of ichthyosis, caused by mutations in genes encoding the protein filaggrin, which is important for forming the structure of the skin, ensuring its hydration and preventing water loss. This type of ichthyosis appears during the baby's first year of life;
  • Bullous ichthyosis or congenital bullous ichthyosiform erythroderma: in this type, in addition to very dry skin, fluid-filled blisters may also appear that can become infected and release a foul odor. This type of ichthyosis is usually present from birth, caused by mutations in the KRT1 or KRT10 genes, which produce skin keratin, a type of protein that protects the skin and prevents water loss;
  • Harlequin ichthyosis: is the most serious type of ichthyosis that causes intense dryness that can stretch the skin and turn the lips and eyelids inside out. Harlequin ichthyosis is caused by mutations in the ABCA12 genes, responsible for producing proteins for the development of the skin's protective barrier. Normally, babies with this type of ichthyosis should be admitted to the ICU soon after birth;
  • Lamellar ichthyosis: this type of ichthyosis is caused by a mutation in the TGM1 gene, which is responsible for skin formation, and symptoms can appear shortly after birth. Learn more about lamellar ichthyosis;
  • Ichthyosis linked to the X chromosome: only appears in boys shortly after birth, causing the appearance of scaly skin on the hands, feet, neck, trunk or buttocks;

Often, hereditary ichthyoses also appear associated with other syndromes, such as Sjögren-Larsson syndrome, for example.

2. Acquired ichthyosis

Acquired ichthyosis is the one that appears most frequently in adulthood and is usually associated with other he alth problems such as hypothyroidism, kidney disease, sarcoidosis, Hodgkin's lymphoma, Kaposi's sarcoma or HIV infection.

In addition, acquired ichthyosis can also arise due to the use of drugs such as cimetidine, hydroxyurea, butyrophenone or maprotiline, for example.

How the treatment is done

Ichthyosis treatment should be done under the guidance of a pediatrician or dermatologist, with the aim of relieving symptoms, improving quality of life and avoiding complications.

The main treatments for ichthyosis that can be indicated by the doctor are:

  • Apply a moisturizing cream to the skin, containing petroleum jelly, urea or alpha hydroxy acids, such as Bioderma Atoderm or Noreva Xerodiane Plus, for example, applied within the first 3 minutes after bathing;
  • Avoid bathing with very hot water, as it dries out the skin;
  • Use soaps with neutral pH to avoid excessive drying of the skin;
  • Comb wet hair to remove scales from the scalp;
  • Apply exfoliating creams containing lanolin or lactic acid to remove dry skin layers;
  • Use artificial tears, to keep the eyes lubricated in case of dry eyes;
  • Retinoid Remedies, in ointment or tablet form, to help speed up skin renewal;

In addition, in more severe cases, the dermatologist may also recommend the use of antibiotic creams, corticosteroids or vitamin A remedies to reduce the risk of skin infections and prevent the appearance of scales.

Possible complications

The main complications of ichthyosis arise due to excessive dryness of the skin and include:

  • Infections: the skin cannot adequately protect against bacteria, fungi or other microorganisms and therefore there is an increased risk of infection;
  • Difficulty breathing: skin stiffness can make breathing difficult, leading to breathing difficulty and even respiratory arrest in the newborn;
  • Excessive increase in body temperature: due to the increased thickness of the skin, the body has more difficulty in letting the heat out, and it can become very hot.

These complications can cause some symptoms such as fever above 38º C, excessive tiredness, shortness of breath, confusion or vomiting, for example. In these cases, you should go to the emergency room immediately to identify the problem and start the most appropriate treatment.

To avoid the complications of ichthyosis, it is important to always follow the recommendations and treatments indicated by the doctor.

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