Diagnosis and Treatments of Ichthyosis | Dermatology


What is Ichthyosis?

Ichthyosis is a family of genetic skin disorders. This can lead to dry, peeling skin that can be thick or very thin. Symptoms range from mild to severe. The word fish is derived from the Greek root prefix “itchy”. Each year, more than 13,000 babies are born with any kind of ichthyosis.

According to one study, about 300 babies are born with moderate to severe skin disorders each year. This attacks people of all ages, races, and genders. The disease usually occurs at birth or in the first year and affects the patient for the rest of their life.

Types of Ichthyosis

Some types only cause dry skin, flaky skin. Others cause problems even within the body.

Most forms of the disease are very rare. The rare types are:

  • Ichthyosis Vulgaris: This is a type of ichthyosis. It is a common skin disorder that is passed down from parents to children and leads to dry, flaky skin.
  • X-linked recessive ichthyosis: This is a genetic skin disorder called steroid sulfate deficiency (STS).
  • Epidermolysis Ichthyosis or Epidermolytic hyperkeratosis: Patients with epidermolysis ichthyosis develop thick, dark, spiny scales on the skin, and the skin itself is more likely to blister with any impact or injury.
  • Lamellar Ichthyosis: In this variant of this skin disorder, the hardening of the skin reappears, but the formation of large plaque-shaped scales can also be observed.

Causes of Ichthyosis

Most people with ichthyosis receive a specific defective gene from their parents. Signs and symptoms of hereditary ichthyosis appear at birth or in the first year of life.

A defective gene affects the rate of regeneration of the skin: the removal of old skin cells is very slow or skin cells regenerate much faster than the old skin. Either way, it aggravates rough and flaky skin.

Some people get ichthyosis because they have another medical condition or have side effects from medications.

Symptoms of ichthyosis

Depending on the genetic abnormality causing the skin disorder, the skin can show different layers. In most cases of ichthyosis Vulgaris, the skin forms in layers over most of the body, but not on the inner surfaces of the joints, the groin area, or the face.

The symptoms of ichthyosis range from mild to severe. The most common characteristics are:

  • Acute dryness of the skin with thickening and scaling, which is only visible in limited areas or can cover almost the entire surface of the skin.
  • Mild itching of the skin
  • Body odor, because the spaces under and between the scales of the skin contain accumulations of bacteria or fungi.
  • Waxing in the ears causes hearing problems.

Depending on the type, there may be other symptoms:

  • Blisters that can break, leading to wounds.
  • Hair loss or fragile hair.
  • Dry eyes and difficulty closing eyelids.
  • Inability to sweat because skin scales clog the sweat glands.
  • Difficulty hearing.
  • Thickening of the skin on the palms of the hands and soles of the feet.
  • Tightening of the skin.
  • Difficulty flexing some joints.
  • Open wounds from scratching itchy skin.

Diagnosis of ichthyosis

A doctor can usually diagnose ichthyosis by looking at the skin. Family history can also be of great help. In some cases, a skin biopsy is done to confirm the diagnosis. In a biopsy, a small piece of skin is divided and analyzed under a microscope. In rare cases, genetic testing can help make a diagnosis.

Treatment for ichthyosis

In the treatment of all types of this disease, moisture is restored to the skin and dead skin cells are removed more aggressively. Frequent visits to a dermatologist can help when this skin disorder causes severe symptoms.

  • People with the disease may choose to visit a dermatologist every day to help with ichthyosis.
  • Using moisturizing creams or ointments after bathing or showering can help keep your skin hydrated.
  • Products that contain lanolin, urea, or petroleum jelly can go a long way in keeping your skin moist.
  • Some creams or lotions contain medications that promote the removal of scales from the skin. These creams or lotions include lactic acid or other alpha hydroxy acids.
  • Affected people may need to use antibiotics from time to time if scratching causes a skin infection or if body odor becomes a major problem.
  • People with the disease need to see a doctor if they have a fever or redness of the skin, as it can make your skin a less effective barrier against infection.

If it causes scratching and skin infections, or if body odor is a major problem, antibiotics may be needed from time to time.


There is no single test for this disease. The health care provider will usually diagnose the disorder:

  • Ask about their medical and family history, including any skin disorders.
  • Do a physical exam, which consists of examining your skin, hair, and nails.
  • Skin biopsy to check the tissue under a microscope.
  • Request a genetic test to find out if you have a mutated gene.


Some people may experience:

  • Overheating: In rare cases, the thickness of the skin and scales from the ichthyosis can interfere with sweating. This can prevent frostbite. In some people, excessive sweating (hyperhidrosis) occurs.
  • Secondary infection: Cracks and fissures in the skin can lead to infections.


The most severe forms of this skin disorder can be life-threatening to the affected newborn, but most people with this skin disorder have a normal life expectancy. Hereditary forms of this disease persist throughout life.

Acquired of this skin disorder can be resolved if the underlying cause can be treated effectively or if the offending drug is stopped.

Departments to consult for this condition

  • Department of dermatology

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