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What

Ichthyosis vulgaris is a common skin condition characterized by dry, thick, FISH-like scaling of the skin. “Ichthy” means FISH in Greek and vulgaris means common. This condition can be hereditary or acquired later on in adulthood. There are over twenty varieties of ichthyosis, with a wide range of severity and associated symptoms. Hereditary ichthyosis vulgaris is the most common form and accounts for 95% of all ichthyosis cases.

Who

Hereditary ichthyosis vulgaris is a common disease. It is estimated to occur in 1 out of every 250 children. Boys and girls of all races and ethnicities are equally affected. Acquired ichthyosis vulgaris is very rare and occurs in adulthood.

Signs and Symptoms

Children with hereditary ichthyosis vulgaris usually develop symptoms by the age of 5 years and the first signs and symptoms typically start during the first year of life. The scales can range from tiny and white, to thick, brown and plate-like. They are arranged in a mosaic pattern, like the scales on FISH or lizards. They are especially obvious on the knees, elbows and the back. The armpits, elbows, groin, and neck regions are usually not involved. The forehead and cheeks may be affected initially. Dry scaling of the scalp is common. This scaling decreases in hot and humid environments and worsens during dry winter months. Thickening (hyperkeratosis) of the skin on the palms and soles of the feet is common. Painful cracking of the skin in these areas can occur and lead to infection. Small bumps on the back of the arms (keratosis pilaris) are often found. The dry skin may cause itching. The scaling worsens until the child reaches puberty, then gradually improves. Children with hereditary ichthyosis vulgaris can also have allergic diseases such as asthma, eczema, and hay fever.

Possible Causes

Hereditary ichthyosis vulgaris is not caused by infection, so it is not contagious. It also cannot be prevented. Hereditary ichthyosis vulgaris is an autosomal dominant disorder -- an inherited genetic disorder where only one gene with a change is necessary to cause symptoms. If one of the parents has this gene with a mutation, each child has a 50% risk of inheriting this gene. In some cases, new or spontaneous mutations in the gene may be responsible for hereditary ichthyosis vulgaris. Hereditary ichthyosis vulgaris is caused by mutations in the gene named profilaggrin located on chromosome number one. This gene normally produces a protein named profilaggrin that is involved in the formation of the outer layer of the skin. When the profilaggrin gene has a genetic change there is increased turnover of the skin lining. This results in the scaling seen in ichthyosis.

Diagnosis

The diagnosis is made by finding the above signs and symptoms on physical examination. Taking a small piece of skin by biopsy can aid in the diagnosis of hereditary ichthyosis vulgaris by differentiating it from other causes of ichthyosis.

Treatment

There is no cure for hereditary ichthyosis vulgaris. Treatment aims to keep the skin well-moisturized and to prevent infection. Mild, non-drying soaps should be used. Skin moisturizers containing propylene glycol are crucial and should be applied daily after bathing while the skin is still wet. A special class of skin care products called alpha-hydroxy acids can help decrease the thickness of the skin. Topical salicylic acid, the active ingredient in aspirin, can help remove the scaling. Topical retinoic acids, which are commonly used for acne, can decrease scaling as well. Topical antibacterial ointments are useful to prevent and treat skin infections. Topical steroids may be useful if the skin is very itchy.

Prognosis

Hereditary ichthyosis vulgaris improves with age and the prognosis is generally excellent. Patients with hereditary ichthyosis vulgaris have normal life spans. Cosmetic and infectious complications can be reduced by aggressive daily skin care.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Foundation for Ichthyosis & Related Skin Types, Inc. (F.I.R.S.T.)
Provides education and support networks for families.

Ichthyosis Information
Contains children s chat rooms and education for families. National Registry of Ichthyosis and Related Disorders www.skinregistry.org A national registry sharing information about ongoing research projects.

Google Search for Ichthyosis Vulgaris

References and Sources

www.emedicine.com/derm/topic678.htm www.nlm.nih.gov/medlineplus/ency/article/001451.htm http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146700 my.webmd.com/hw/raising_a_family/nord543.aspdermnetnz.org/scaly/ichthyosis.html www.hmc.psu.edu/healthinfo/i/