Ichthyosis vulgaris
Encyclopedia
Ichthyosis vulgaris is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosis
, affecting around 1 in 250 people. For this reason it is known as common ichthyosis. It is usually an autosomal dominant inherited disease (often associated with filaggrin
), although a rare non-heritable version called acquired ichthyosis exists.
The condition is not life-threatening; the impact on the patient, if it's a mild case, is generally restricted to mild itching and the social impact of having skin with an unusual appearance. People afflicted with mild cases have symptoms that include scaly patches on the shins, fine white scales on the forearms and upper arms, and rough palms. People with the mildest cases have no symptoms other than faint, tell-tale "mosaic lines" between the Achilles tendon
s and the calf muscles.
Severe cases, although rare, do exist. Severe cases entail the build up of scales everywhere, with areas of the body that have a concentration of sweat glands being least affected. Areas where the skin rubs against each other, such as the armpits, the groin, and the "folded" areas of the elbow and knees, are less affected. When the build up of scales is bad, the person with a severe case suffers from "prickly itch
" when he or she needs to sweat but cannot because of the scales. Various topical treatments are available to "exfoliate" the scales. These include lotions that contain alpha-hydroxy acids.
The dry skin will crack on digits or extremities and create bloody cuts. Skin is painful when inflamed and/or tight.
For children and adolescents: psychological precautions may include inconsistent self-image, mood fluctuates due to cyclical outbreaks, prone to addiction, may socially withdraw and/or separate when skin is noticeably infected, pre-occupation with appearance.
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).
which plays a vital role in the structure of the skin). Around 10% of the population have some detrimental mutations to the profilaggrin gene that is also linked to atopic dermatitis
(another skin disorder that 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 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.
Ichthyosis
Ichthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...
, affecting around 1 in 250 people. For this reason it is known as common ichthyosis. It is usually an autosomal dominant inherited disease (often associated with filaggrin
Filaggrin
Filaggrin is a filament-associated protein that binds to keratin fibers in epithelial cells.-Profilaggrin:Filaggrin monomers are tandemly clustered into a large, 350kDa protein precursor known as profilaggrin. In the epidermis, these structures are present in the keratohyalin granules in cells of...
), although a rare non-heritable version called acquired ichthyosis exists.
Presentation
The symptoms of the inherited form of ichthyosis vulgaris are not usually present at birth but generally develop between 3 months and 5 years of age. The symptoms will often improve with age, although they may grow more severe again in old age.The condition is not life-threatening; the impact on the patient, if it's a mild case, is generally restricted to mild itching and the social impact of having skin with an unusual appearance. People afflicted with mild cases have symptoms that include scaly patches on the shins, fine white scales on the forearms and upper arms, and rough palms. People with the mildest cases have no symptoms other than faint, tell-tale "mosaic lines" between the Achilles tendon
Achilles tendon
The Achilles tendon , also known as the calcaneal tendon or the tendo calcaneus, is a tendon of the posterior leg. It serves to attach the plantaris, gastrocnemius and soleus muscles to the calcaneus bone.- Anatomy :The Achilles is the tendonous extension of 3 muscles in the lower leg:...
s and the calf muscles.
Severe cases, although rare, do exist. Severe cases entail the build up of scales everywhere, with areas of the body that have a concentration of sweat glands being least affected. Areas where the skin rubs against each other, such as the armpits, the groin, and the "folded" areas of the elbow and knees, are less affected. When the build up of scales is bad, the person with a severe case suffers from "prickly itch
Miliaria
Miliaria is a skin disease marked by small and itchy rashes. Miliaria is a common ailment in hot and humid conditions, such as in the tropics and during the summer season...
" when he or she needs to sweat but cannot because of the scales. Various topical treatments are available to "exfoliate" the scales. These include lotions that contain alpha-hydroxy acids.
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".The dry skin will crack on digits or extremities and create bloody cuts. Skin is painful when inflamed and/or tight.
For children and adolescents: psychological precautions may include inconsistent self-image, mood fluctuates due to cyclical outbreaks, prone to addiction, may socially withdraw and/or separate when skin is noticeably infected, pre-occupation with appearance.
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
Eczema
Eczema is a form of dermatitis, or inflammation of the epidermis . In England, an estimated 5.7 million or about one in every nine people have been diagnosed with the disease by a clinician at some point in their lives.The term eczema is broadly applied to a range of persistent skin conditions...
, or asthma
Asthma
Asthma is the common chronic inflammatory disease of the airways characterized by variable and recurring symptoms, reversible airflow obstruction, and bronchospasm. Symptoms include wheezing, coughing, chest tightness, and shortness of breath...
. Another common condition associated with ichthyosis vulgaris is keratosis pilaris
Keratosis pilaris
Keratosis pilaris is a common, autosomal dominant, genetic follicular condition that is manifested by the appearance of rough bumps on the skin...
(small bumps mainly appearing on the back of the upper arms).
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 filaggrinFilaggrin
Filaggrin is a filament-associated protein that binds to keratin fibers in epithelial cells.-Profilaggrin:Filaggrin monomers are tandemly clustered into a large, 350kDa protein precursor known as profilaggrin. In the epidermis, these structures are present in the keratohyalin granules in cells of...
which plays a vital role in the structure of the skin). Around 10% of the population have some detrimental mutations to the profilaggrin gene that is also linked to atopic dermatitis
Atopic dermatitis
Atopic dermatitis is an inflammatory, chronically relapsing, non-contagious and pruritic skin disorder...
(another skin disorder that 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 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.