User:NorbertHerbert/Ichthyosis vulgaris

Ichthyosis vulgaris

Ichthyosis vulgaris, F.I.R.S.T.

OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis vulgaris

Ichthyosis vulgaris, eMedicine.com

Ichthyosis vulgaris, MedlinePlus Medical Encyclopedia

Associated conditions

Many people with severe ichthyosis have problems sweating due to the build up of scales on the skin. This may lead to problems such as "prickly itch" or problems associated with overheating. The majority of people with vulgaris can sweat at least a little. Paradoxically this means most would be more comfortable living in a hot and humid climate. Sweating helps to shed scales which improves the appearance of the skin and prevents "prickly itch".

Strong air-conditioning and excessive consumption of alcohol can also increase the build up of scales.

Over 50% of people with ichthyosis vulgaris suffer from some type of atopic disease such as allergies, eczema or asthma. Another common condition associated with ichthyosis vulgaris is keratosis pilaris (small bumps mainly appearing on the back of the upper arms).

Presentation

Ichthyosis vulgaris is not usually present at birth but generally the first symptoms develop between 3 months and 5 years of age.

Dry skin and scaling, most severe on the stomach, arms and legs. Excessive wrinkling (hyperlineation) of the palms and soles

Commonly linked with atopic conditions like excema and allergies. Also keratosis pilaris.

Genetics

Ichthyosis vulgaris is one of the most common genetic disorders caused by a single gene . The disorder is believed to be caused by mutations to the gene encoding profilaggrin (a protein which is converted to filaggrin which plays a vital role in the structure of the skin). Around 10% of the population have some detrimental mutations to the profilaggrin gene which is also linked to atopic dermatitis (another skin disorder which is often present with ichthyosis vulgaris) . The exact mutation is only known for some cases of ichthyosis vulgaris .

It is generally considered to be an autosomal dominant condition, i.e. a single genetic mutation causes the disease and an affected person has a 50% chance of passing the condition on to their child. There is some current research indicating it may be semi-dominant. This means that a single mutation would cause a mild case of ichthyosis vulgaris and mutations to both copies of the gene would produce a more severe case .