What is ichthyosis?
Ichthyosis is a collective name for a number of congenital skin conditions, characteristically involving dry and scaly skin with thickening of the stratum corneum. The name comes from the Greek word "ichthys," meaning fish, because the rough skin of someone with ichthyosis bears some resemblance to that of a fish.
The main forms of ichthyosis are:
- Ichthyosis vulgaris
- X-linked (= sex-linked) recessive ichthyosis
- Lamellar ichthyosis
- Congenital bullous ichthyosiform erythroderma
How does ichthyosis occur?
The imbalance between the production of new skin cells and the exfoliation of dead skin cells is driven by hereditary material, including genes. In ichthyosis, these genes show abnormalities, resulting in a congenital disorder.
Ichthyosis vulgaris is the most common form, missing a specific enzyme (profilaggrin) that is essential for normal cornification. This is due to an abnormal gene that is inherited autosomal-dominantly, meaning that about half of the children of someone with this condition will also suffer from ichthyosis.
X-linked recessive ichthyosis occurs only in boys and men, the cause being the absence of an enzyme (steroid sulfatase) on the X chromosome.
Lamellar ichthyosis has several subtypes, some inherited according to an autosomal-recessive pattern and a very rare autosomal-dominant subtype.
Congenital bullous ichthyosiform erythroderma is caused by an inherited defect in keratin protein genes and is inherited autosomal-dominantly.
In addition to these forms, rarer forms exist, and ichthyosis can also develop later in life as a non-hereditary condition.
What are the symptoms of ichthyosis?
ICHTHYOSIS VULGARIS
The skin abnormalities usually appear a few months after birth on the trunk, arms and legs, with gray scaling. The entire skin is dry, but certain areas such as the armpits, elbow hollows and knee hollows remain normal. Symptoms often improve in summer and worsen in winter, sometimes accompanied by constitutional eczema.
X-LINKED RECESSIVE ICHTHYOSIS
This form occurs only in boys and men, with brown scaling and prominent skin abnormalities on the neck. In severe cases, dark brown, scaly thickenings may be present. The entire skin is dry, including armpits, elbow hollows and knee hollows. It may be accompanied by eye cloudiness and, in boys, non-inverted testicles.
LAMELLAR ICHTHYOSIS
May present severely at birth as a smooth, tight layer (collodion baby) followed by coarse scales, dark brown scales, cracked skin, red skin and possibly nail abnormalities and reduced hair growth.
CONGENITAL BULLOUS ICHTHYOSIFORM ERYTHRODERMA
At birth, the skin is red and shows superficial loosening or blistering, followed by thick cornification. Later blisters may develop, and the palms and soles of the feet may be thickened.
Is ichthyosis contagious?
No, ichthyosis is not contagious.
How is ichthyosis diagnosed?
The doctor can usually tell from the skin which form of ichthyosis is present. Specific enzyme tests in the blood can help with the diagnosis, such as measuring steroid sulfatase for X-linked recessive ichthyosis.
What treatments are available for ichthyosis?
Ointments, creams containing urea and, in some cases, acitretin (capsules) are used to treat ichthyosis.
Is ichthyosis curable?
Unfortunately, ichthyosis cannot be cured, but treatments can help reduce symptoms. The course of the condition can vary, with some forms showing some improvement later in life.
What can you do yourself?
To keep the skin less dry, it is important to:
- Be economical with soap
- Don't shower too often, too hot or too long
- Limit the use of baths
- Use bath and/or shower oil
- Apply a cream or ointment prescribed by your dermatologist daily
For people with ichthyosis in the family, it is advisable to be educated about the heredity of the condition. In severe forms, genetic counseling is advisable if there are plans to have children.
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