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any of several congenital diseases in which the skin is dry and scaly like a fish

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『下品な』,野卑な,無作法な / 《おもに文》《名詞の前にのみ用いて》庶民の,民衆の,一般大衆の

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/12/10 22:08:57」(JST)

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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

Presentation[edit]

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.^[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 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 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 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.

Associated conditions[edit]

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, 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[edit]

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]

References[edit]

^ ^a ^b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ 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, Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.)
^ ^a ^b Ichthyosis Research (2006), Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T)

External links[edit]

DermAtlas 28
Photographs from Ichthyosis Information
Foundation for Ichthyosis research in Monaco

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 遺伝性の魚鱗癬の概要 overview of the inherited ichthyoses
2. アトピー性皮膚炎（湿疹）の病因、臨床症状、および診断 pathogenesis clinical manifestations and diagnosis of atopic dermatitis eczema
3. X染色体連鎖劣性魚鱗癬 recessive x linked ichthyosis
4. 毛孔性角化症 keratosis pilaris
5. 内臓悪性腫瘍の皮膚症状 cutaneous manifestations of internal malignancy

English Journal

Clinical characteristics of Korean patients with filaggrin-related atopic dermatitis.

Park KY1, Park MK1, Seok J1, Li K1, Seo SJ1.
Clinical and experimental dermatology.Clin Exp Dermatol.2016 Aug;41(6):595-600. doi: 10.1111/ced.12854. Epub 2016 Jun 24.
BACKGROUND: Filaggrin is a key protein involved in skin barrier function. Mutations in the gene encoding filaggrin (FLG) have been identified as the cause of ichthyosis vulgaris and have been shown to be major predisposing factors for atopic dermatitis (AD).AIM: To investigative the clinical charact
PMID 27339295

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

Park KY1, Li K1, Seok J1, Seo SJ1.
Journal of Korean medical science.J Korean Med Sci.2016 Jul;31(7):1136-42. doi: 10.3346/jkms.2016.31.7.1136. Epub 2016 May 9.
Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean
PMID 27366014

Urea: A Clinically Oriented Overview from Bench to Bedside.

Friedman AJ, von Grote EC, Meckfessel MH.
Journal of drugs in dermatology : JDD.J Drugs Dermatol.2016 May 1;15(5):633-9.
Urea is an important hygroscopic component of the epidermis, where it participates in the maintenance of skin hydration as part of the skin's source of natural moisturizing factor (NMF) in the outer most layers. Xerotic skin, which is frequently characterized as NMF-deficient, is a unifying trait of
PMID 27168272

Japanese Journal

角層バリア機能異常症としての角化症とフィラグリン (特集 Filaggrinとアトピー性皮膚炎)

関谷徳子,秋山真志
臨床免疫・アレルギー科 58(3), 300-304, 2012-09-00
NAID 40019439979

Order and disorder in corneocyte adhesion

山本明美,Igawa Satomi,Kishibe Mari
The Journal of Dermatology 38(7), 645-654, 2011-07-00
… Abnormal corneodesmosome degradation is also found in more common skin diseases including ichthyosis vulgaris, atopic dermatitis, psoriasis vulgaris, lichen planus and soap-induced xerosis. …
NAID 120004418827

Order and disorder in corneocyte adhesion (角質細胞接着における正常と疾患)

山本明美,Igawa Satomi,Kishibe Mari
The Journal of Dermatology 38(7), 645-654, 2011-07-00
… Abnormal corneodesmosome degradation is also found in more common skin diseases including ichthyosis vulgaris, atopic dermatitis, psoriasis vulgaris, lichen planus and soap-induced xerosis. …
NAID 120004305843

Related Pictures

★リンクテーブル★

リンク元	「尋常性魚鱗癬」
拡張検索	「dominant ichthyosis vulgaris」
関連記事	「vulgaris」

「尋常性魚鱗癬」

Ichthyosis vulgaris
	Classification and external resources
	; Ichthyosis vulgaris #1 (top-left)
ICD-10	Q80.0
ICD-9	757.1
OMIM	146700
DiseasesDB	6647
MedlinePlus	001451
eMedicine	derm/678
MeSH	D016112

　　[★]

英: ichthyosis vulgaris
関: 優性尋常性魚鱗癬、魚鱗癬

概念

魚鱗癬の中で最多

疫学

幼児期より発症。

遺伝形式

常染色体優性遺伝

病因

フィラグリン遺伝子(FLG, 1q21.3)の異常

病態

角層の剥離遅延により角層の肥厚
顆粒層は減少～消失

症状

ほとんどない

身体所見

皮膚：

病変：皮膚乾燥、落屑
部位：間接伸側、体幹

合併症

ときにアトピー性皮膚炎

治療

対症療法：外用薬(保湿剤、尿素軟膏、サリチル酸ワセリン、ビタミンD3軟膏)

参考

1. ICHTHYOSIS VULGARIS - OMIM

http://omim.org/entry/146700

「dominant ichthyosis vulgaris」

　　[★]

優性尋常性魚鱗癬

関: ichthyosis vulgaris

「vulgaris」

　　[★]

adj.

(後置するラテン語形容詞)尋常性の

[Bolognia-1] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[Fitz2-2] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[3] www.ichthyosis.com

[Andrews-4] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[omim-5] Ichthyosis vulgaris, OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University

[emed-6] Ichthyosis vulgaris, eMedicine.com

[mplus-7] "Ichthyosis vulgaris", MedlinePlus Medical Encyclopedia.

[8] Ichthyosis vulgaris, Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.)

[semidom-9] Ichthyosis Research (2006), Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T)

匿名

検索

案内

案内

ichthyosis vulgaris