What is ichthyosis: causes, symptoms and proper management

Ichthyosis is a skin condition characterised by severe dryness, flaking and, in the most severe cases, thickening of the skin. It can be present from birth or develop in adulthood, depending on the type.

What is ichthyosis?

Ichthyosis is a term used to describe a group of genetic skin diseases characterised by extreme dryness, flaking and, in some cases, thickening of the skin.

These conditions are caused by a disruption in the skin’s natural shedding process, leading to an excessive build-up of dead skin cells on the skin’s surface. Ichthyosis can take various forms, ranging from mild to severe, and often appears at birth or in early childhood.

Why ichthyosis occurs: the causes

Ichthyosis is mainly caused by genetic mutations that impair the skin’s ability to retain moisture and renew itself properly. These mutations affect the production or function of proteins that are essential for the skin barrier, leading to dryness, flaking and thickening of the skin.

The forms of ichthyosis can be divided into two main categories:

• Hereditary ichthyosis
  These conditions are present from birth or in the early years of life and are linked to genetic mutations passed on by parents. The main forms include:

  • Ichthyosis vulgaris: the most common and mildest form, characterised by dry, scaly skin, particularly on the legs and arms.

  • Lamellar ichthyosis: this condition is present at birth, with large, dark scales covering most of the body.

  • Congenital ichthyosiform erythroderma: characterised by widespread redness and fine scales.

  • Epidermolytic hyperkeratosis: causes skin thickening and blisters in areas subject to friction.

  • X-linked ichthyosis: more common in males, it presents with dark brown scales and is often associated with other conditions.

  • Harlequin ichthyosis: an extremely rare and severe form, present from birth, characterised by thick, hard scales that restrict movement.

• Acquired ichthyosis
  These conditions appear in adulthood, not as a result of heredity but in association with other systemic disorders. The exact causes are not fully understood, but they have been observed in connection with conditions such as:

  • hypothyroidism

  • lymphoma

  • AIDS

  • leprosy and other chronic infections

In addition to this distinction, ichthyoses can be further classified into:

• Syndromic ichthyosis, where the skin condition is associated with abnormalities in other organs or systems.

• Non-syndromic ichthyosis, confined exclusively to the skin.

Symptoms and complications

The symptoms of ichthyosis vary depending on the severity and type of the condition, but the most common include extremely dry, scaly and sometimes thickened skin.
The areas most commonly affected are usually the legs, arms and trunk, although some forms can affect the whole body.
In severe cases, ichthyosis can lead to complications such as painful skin fissures, difficulty moving, and an increased risk of secondary infections due to the skin fissures.

Diagnosis

The diagnosis of ichthyosis is initially based on a clinical examination and the observation of characteristic symptoms.
Genetic tests may be carried out to identify the specific mutations involved, which is useful for confirming the diagnosis and for genetic counselling.
Skin biopsies may be used in doubtful cases to examine the characteristics of the skin cells.

Treatment and management of ichthyosis

The treatment of ichthyosis aims to manage symptoms and improve quality of life. Common strategies include:

• the regular use of specific self-moisturising ointments (such as Extreme Emollient Ointment) to restore the skin’s moisture content
• topical or systemic retinoids may be prescribed to help normalise skin cell turnover
• creams containing keratolytic agents such as alpha and beta hydroxy acids (such as Glycocream+ also help to remove excess flakiness and soften the skin

It is also important to avoid factors that can exacerbate dry skin, such as long hot baths or very dry environments.

Can ichthyosis be cured? Hereditary forms cannot be cured permanently, but they can be managed with ongoing treatment. Acquired forms, on the other hand, can improve by treating the underlying condition and making behavioural changes.

Is ichthyosis contagious?

No, ichthyosis is not a contagious disease.
It is a genetic condition – or, in some cases, an acquired one – that is not transmitted from person to person, either through direct contact or via shared objects.

Can ichthyosis be prevented?

There is no way to prevent ichthyosis, as it is a genetic condition. However, early diagnosis and proactive management can prevent many of the associated complications and significantly improve the quality of life of those affected. Genetic counselling can be helpful for families with a history of ichthyosis, providing information on the risks of passing the condition on to future generations and on management options.

Ichthyosis requires careful and ongoing management, involving collaboration between dermatologists, paediatricians and, in some cases, other specialists to ensure an effective and personalised treatment approach.