WordNet

any of several congenital diseases in which the skin is dry and scaly like a fish
a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin (同)xerodermia

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/08/31 21:06:26」(JST)

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Ichthyosis (plural ichthyoses) is a heterogeneous family of at least 28,^[1] generalized, mostly genetic skin disorders.

All types of ichthyosis have dry, thickened, scaly or flaky skin.^[1] In many types there is cracked skin,^[2] which is said to resemble the scales on a fish; the word ichthyosis comes from the Ancient Greek ἰχθύς (ichthys), meaning "fish."^[3]

The severity of symptoms can vary enormously, from the mildest, most common, type such as ichthyosis vulgaris which may be mistaken for normal dry skin up to life-threatening conditions such as harlequin type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases.^[4]

Types

There are many types of ichthyoses and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance and their genetic cause. Ichthyosis caused by the same gene can vary considerably in severity and symptoms. Some ichthyoses do not appear to fit exactly into any one type. Different genes can produce ichthyoses with similar symptoms. Of note, X-linked ichthyosis is associated with Kallmann syndrome (close to KAL1 gene). The most common or well-known types are as follows:^[5]

Genetic simple ichthyoses

Name	OMIM	Gene	Protein
Ichthyosis vulgaris	146700	FLG	Filaggrin
X-linked ichthyosis	308100	STS	Steroid sulfatase
Congenital ichthyosiform erythroderma, Nonbullous (nbCIE)	242100	TGM1, ALOXE3/ALOX12B	Transglutaminase 1 Arachidonate lipoxygenase 3 Arachidonate 12-lipoxygenase, 12R type
Epidermolytic hyperkeratosis (bullous ichthyosis, bCIE)	113800	KRT1, KRT10	Keratins
Harlequin-type ichthyosis	242500	ABCA12	ATP-binding cassette transporter 12
Ichthyosis bullosa of Siemens	146800	KRT2	Keratin 2A
Ichthyosis hystrix, Curth-Macklin type	146590	KRT1	Keratin 1
Hystrix-like ichthyosis with deafness	602540	GJB2	Connexin-26 (Gap junction beta-2)
Lamellar ichthyosis, type 1	242300	TGM1	Transglutaminase 1
Lamellar ichthyosis, type 2	601277	ABCA12	ATP-binding cassette transporter 12
Lamellar ichthyosis, type 3	604777	CYP4F22	Cytochrome P450, subfamily 4F, polypeptide 22
Lamellar ichthyosis, type 4	613943	LIPN	Lipase family, member N
Lamellar ichthyosis, type 5	606545	ALOXE3	Arachidonate lipoxygenase 3
Autosomal Recessive Congenital Ichthyosis^[6]	615023	CERS3	ceramide synthase 3

Genetic disease with ichthyosis

Name	OMIM	Gene	Protein
CHILD Syndrome	308050	NSHDL	NAD(P) dependent steroid dehydrogenase-like
Conradi-Hünermann syndrome	302960	EBP	Emopamil binding protein
Ichthyosis follicularis with alopecia and photophobia syndrome	308205	MBTPS2	Membrane-bound transcription factor peptidase, site 2
Keratitis-ichthyosis-deafness syndrome	148210	GJB2	Connexin-26
Netherton syndrome	256500	SPINK5	Serine peptidase inhibitor, Kazal type 5
Neutral lipid storage disease with ichthyosis	275630	ABHD5	1-acylglycerol-3-phosphate O-acyltransferase
Adult Refsum disease	266500	PHYH PEX7	Phytanoyl-CoA hydroxylase Peroxin 7
Ichthyosis and male hypogonadism	308200	?
Sjögren-Larsson syndrome	270200	ALDH3A2	Fatty acid dehydrogenase
Photosensitive trichothiodystrophy (IBIDS syndrome)	601675	ERCC2, ERCC3, GTF2H5	Transcription factor IIH components
Gaucher Disease, type 2	230900	GBA	Glucocerebrosidase

Non-genetic ichthyosis

Ichthyosis acquisita

Diagnosis

A physician often can diagnose ichthyosis by looking at the skin. A family history is very useful. In some cases, a skin biopsy is done to help to confirm the diagnosis. In some instances, genetic testing may be helpful in making a diagnosis. Diabetes has not been definitively linked to acquired ichthyosis or ichthyosis vulgaris; however, there are case reports associating new onset ichthyosis with diabetes.^[7]

Ichthyosis has been found to be more common in Native American, Asian, Mongolian groups. There is no way to prevent ichthyosis.

Treatments

Treatments for ichthyosis often take the form of topical application of creams and emollient oils, in an attempt to hydrate the skin. Creams containing lactic acid have been shown to work exceptionally well in some cases.^{[citation needed]} Application of propylene glycol is another treatment method. Retinoids are used for some conditions.

Exposure to sunlight may improve^{[citation needed]} or worsen the condition. In some cases, excess dead skin sloughs off much better from wet tanned skin after bathing or a swim, although the dry skin might be preferable to the damaging effects of sun exposure.

There can be ocular manifestations of ichthyosis, such as corneal and ocular surface diseases. Vascularizing keratitis, which is more commonly found in congenital keratitis-ichythosis-deafness (KID), may worsen with isotretinoin therapy.

Other animals

Ichthyosis or ichthyosis-like disorders exist for several types of animals, including cattle, chickens, llamas, mice, and dogs.^[8] Ichthyosis of varying severity is well documented in some popular breeds of domestic dogs. The most common breeds to have ichthyosis are Golden retrievers, American bulldogs, Jack Russell terriers, and Cairn terriers.^[9]

References

^ ^a ^b scalyskin.org, FAQ, Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T)
^ thefreedictionary.com/ichthyosis citing: Gale Encyclopedia of Medicine. Copyright 2008
^ Ichthyosis, Johns Hopkins Health Information Library
^ Okulicz JF, Schwartz RA (2003). "Hereditary and acquired ichthyosis vulgaris". International Journal of Dermatology. 42 (2): 95–8. doi:10.1046/j.1365-4362.2003.01308.x. PMID 12708996.
^ Types of Ichthyosis, Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T.)
^ Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length, J Invest Dermatol. 2013 Sep;133(9):2202-11.
^ Scheinfeld, N; Libkind, M; Freilich, S (2001). "New-onset ichthyosis and diabetes in a 14-year-old.". Pediatric dermatology. 18 (6): 501–3. doi:10.1046/j.1525-1470.2001.1862004.x. PMID 11841637.
^ Sundberg, John P., Handbook of Mouse Mutations with Skin and Hair Abnormalities, Page 333, Published by CRC Press, 1994, ISBN 0-8493-8372-2
^ Gross, Thelma Lee, Veterinary Dermatopathology, Page 174-179, Published by Blackwell Publishing, 2004, ISBN 0-632-06452-8

External links

Foundation for Ichthyosis and Related Skin Types USA
British Ichthyosis Support Group
Non-Profit foundation 'Global Ichthyosis Syndrome Network'
European Network for Ichthyosis
DermAtlas 1896838546

Foundation for Ichthyosis Research in MONACO
Ichthyosis Overview - US National Institute of Arthritis and Musculoskeletal and Skin Diseases

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. Peeling skin syndrome
3. シェーグレン・ラルソン症候群 sjogren larsson syndrome
4. 内臓悪性腫瘍の皮膚症状 cutaneous manifestations of internal malignancy
5. Pathogenesis, clinical manifestations, and diagnosis of atopic dermatitis (eczema)

English Journal

Keratinocyte ATP binding cassette transporter expression is regulated by ultraviolet light.

Markó L, Paragh G, Ugocsai P, Boettcher A, Vogt T, Schling P, Balogh A, Tarabin V, Orsó E, Wikonkál N, Mandl J, Remenyik E, Schmitz G.SourceInstitute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Germany; Department of Dermatology and Venereology, University of Debrecen, Debrecen, Hungary.
Journal of photochemistry and photobiology. B, Biology.J Photochem Photobiol B.2012 Nov 5;116:79-88. doi: 10.1016/j.jphotobiol.2012.06.007. Epub 2012 Jun 25.
Many ATP binding cassette (ABC) transporters are important regulators of lipid homeostasis and have been implicated in keratinocyte lipid transport. Ultraviolet (UV) light exposure is a known epidermal stressor, which amongst other effects causes lipid alterations and defective lamellar body biogene
PMID 22982209

Clofazimine in the treatment of multidrug-resistant tuberculosis.

Xu HB, Jiang RH, Xiao HP.SourceDepartment of Clinical Pharmacy, Shanghai Tenth People's Hospital Department of Tuberculosis, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China.
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.Clin Microbiol Infect.2012 Nov;18(11):1104-10. doi: 10.1111/j.1469-0691.2011.03716.x. Epub 2011 Dec 22.
Clin Microbiol Infect 2012; 18: 1104-1110 ABSTRACT: Clofazimine has shown activity against Mycobacterium tuberculosis, including multidrug-resistant strains in vitro and in animal studies. However, clinical experience with clofazimine in multidrug-resistant tuberculosis (MDR-TB) is scarce. We report
PMID 22192631

Japanese Journal

皮膚バリア障害の最新情報 (シンポジウム皮膚の機能を知る : 皮膚科学研究の最新情報)

秋山真志
日本香粧品学会誌 36(3), 194-198, 2012-09
NAID 40019458017

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
NAID 40019439979

Related Pictures

Ichthyosis Vulgaris – Causes, Symptoms, And Treatment What Is Acquired Ichthyosis? 魚鱗癬 - 14. 皮膚疾患 - MSDマニュアルプロフェッショナル版 Ichthyosis vulgaris - Symptoms and causes - Mayo Clinic Ichthyosis - Pictures, Symptoms, Causes and Treatment - (2019 - Updated) HOMOEOPATHIC REMEDIES FOR ICHTHYOSIS VULGARIS Ichthyosis Vulgaris | GUT BRAIN HEALING with PROFESSOR SUNDARDAS

★リンクテーブル★

リンク元	「魚鱗癬」「xeroderma」
拡張検索	「dominant ichthyosis vulgaris」「ichthyosis-male hypogonadism syndrome」「keratitis-ichthyosis-deafness syndrome」

「魚鱗癬」

Ichthyosis
	Ichthyosis is characterized by rough, scaly skin.
Classification and external resources
Specialty	Dermatology
ICD-10	Q80
ICD-9-CM	757.1
DiseasesDB	6646
eMedicine	article/1198130
MeSH	D007057
	[edit on Wikidata]

　　[★]

英: ichthyosis
関: 角化症

概念

角質層の形成と剥脱機構に異常が生じ、結果として角質層の異常堆積が起こり、皮膚表面が魚のウロコ状を呈する疾患群

魚鱗癬

遺伝性の魚鱗癬

内臓病変を随伴する魚鱗癬（魚鱗癬症候群）

後天性魚鱗癬

遺伝性の魚鱗癬 (NDE.229)

		尋常性魚鱗癬	伴性遺伝性魚鱗癬	水疱型先天性魚鱗癬様紅皮症	非水疱型先天性魚鱗癬様紅皮症，葉状魚鱗癬	道化師様魚鱗癬
頻度		しばしば	ときに	まれ	まれ	きわめてまれ
遺伝形式		常染色体優性	X染色体劣性	常染色体優性	常染色体劣性	常染色体劣性
発症時期		乳幼児	生下時～出生直後	生下時～出生直後	生下時	生下時
皮膚症状	部位	四肢，体幹（背部＞腹部）間擦部伸側＞屈側	腹部＞背部間擦部伸側＝屈側	全身	全身	全身
皮膚症状	形態	細かい鱗屑	黒褐色，大きな鱗屑	角質増殖が強い	潮紅，細かい鱗屑～暗褐色，大きな鱗屑（葉状魚鱗癬）	きわめて厚い角質，ひびわれ，眼瞼外反
病理組織		角質の肥厚と顆粒層の菲薄化	角質の肥厚，顆粒層はほぼ正常	顆粒変性	わないものがある）	著明な角質増殖
病因		フィラグリン産生低下	ステロイドスルファターゼの欠損	ケラチン遺伝子（K1/K10）の異常	一部はトランスグルタミナーゼの欠損	不明