Ichthyosis vulgaris (also known as "autosomal dominant ichthyosis"[1] and "Ichthyosis simplex"[1]) is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosis,[2]: 486 affecting around 1 in 250 people.[3] 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.[4]: 560
The symptoms of the inherited form of ichthyosis vulgaris are not usually present at birth but generally develop between three months and five years of age.[5][6] The symptoms will often improve with age, although they may grow more severe again in old age.[7]
The condition is not life-threatening; the impact on the patient, if it is a mild case, is generally restricted to mild itching and the social impact of having skin with an unusual appearance. People 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 tendons and the calf muscles.
Mild presentation of ichthyosis vulgaris: faint, mosaic lines are visible on the calf
Severe cases, although rare, do exist. Severe cases entail the buildup of scales everywhere, with areas of the body that have a concentration of sweat glands being least affected. Areas where the skin rubs against together, such as the armpits, the groin, and the "folded" areas of the elbow and knees, are less affected. 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 buildup of scales on the skin. This may lead to problems such as "prickly itch", which results from the afflicted skin being unable to sweat due to the buildup of scales, 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".[citation needed]
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 concerns may include inconsistent self-image, mood fluctuating due to cyclical outbreaks, tendency to addiction, possibility of social withdrawal when skin is noticeably infected, and preoccupation with appearance.[citation needed]
Strong air conditioning and excessive consumption of alcohol can also increase the buildup of scales.
Over 50% of people with ichthyosis vulgaris have some type of atopic disease such as allergies, eczema, or asthma.[8] Another common condition associated with ichthyosis vulgaris is keratosis pilaris (small bumps mainly appearing on the back of the upper arms).[6]
Genetics
Ichthyosis vulgaris is one of the most common genetic disorders caused by a single gene.[5] 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).[9] 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).[6] The exact mutation is only known for some cases of ichthyosis vulgaris.[5]
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.[9]
Diagnosis
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Ichthyosis vulgaris also known as autosomal dominant ichthyosis 1 and Ichthyosis simplex 1 is a skin disorder causing dry scaly skin It is the most common form of ichthyosis 2 486 affecting around 1 in 250 people 3 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 4 560 Ichthyosis vulgarisIchthyosis vulgaris 1 top left SpecialtyMedical genetics Contents 1 Presentation 1 1 Associated conditions 2 Genetics 3 Diagnosis 4 See also 5 References 6 External linksPresentation EditThe symptoms of the inherited form of ichthyosis vulgaris are not usually present at birth but generally develop between three months and five years of age 5 6 The symptoms will often improve with age although they may grow more severe again in old age 7 The condition is not life threatening the impact on the patient if it is a mild case is generally restricted to mild itching and the social impact of having skin with an unusual appearance People 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 tendons and the calf muscles Mild presentation of ichthyosis vulgaris faint mosaic lines are visible on the calf Severe cases although rare do exist Severe cases entail the buildup of scales everywhere with areas of the body that have a concentration of sweat glands being least affected Areas where the skin rubs against together such as the armpits the groin and the folded areas of the elbow and knees are less affected Various topical treatments are available to exfoliate the scales These include lotions that contain alpha hydroxy acids Associated conditions Edit Many people with severe ichthyosis have problems sweating due to the buildup of scales on the skin This may lead to problems such as prickly itch which results from the afflicted skin being unable to sweat due to the buildup of scales 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 citation needed 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 concerns may include inconsistent self image mood fluctuating due to cyclical outbreaks tendency to addiction possibility of social withdrawal when skin is noticeably infected and preoccupation with appearance citation needed Strong air conditioning and excessive consumption of alcohol can also increase the buildup of scales Over 50 of people with ichthyosis vulgaris have some type of atopic disease such as allergies eczema or asthma 8 Another common condition associated with ichthyosis vulgaris is keratosis pilaris small bumps mainly appearing on the back of the upper arms 6 Genetics EditIchthyosis vulgaris is one of the most common genetic disorders caused by a single gene 5 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 9 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 6 The exact mutation is only known for some cases of ichthyosis vulgaris 5 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 9 Diagnosis EditThis section is empty You can help by adding to it February 2018 See also EditHarlequin type ichthyosis List of cutaneous conditions List of cutaneous conditions caused by mutations in keratinsReferences Edit a b Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill ISBN 0 07 138076 0 www ichthyosis com James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders ISBN 0 7216 2921 0 a b c Ichthyosis vulgaris OMIM Online Mendelian Inheritance in Man Johns Hopkins University a b c Ichthyosis vulgaris eMedicine com Ichthyosis vulgaris MedlinePlus Medical Encyclopedia Ichthyosis vulgaris Archived 2009 02 26 at the Wayback Machine Foundation for Ichthyosis and Related Skin Types F I R S T a b Ichthyosis Research 2006 Foundation for Ichthyosis amp Related Skin Types F I R S T External links EditDermAtlas 28 Photographs from Ichthyosis Information Retrieved from https en wikipedia org w index php title Ichthyosis vulgaris amp oldid 1074135658, wikipedia, wiki, book, books, library,
