WordNet

used to express refusal or denial or disagreement etc or especially to emphasize a negative statement; "no, you are wrong"
a negative; "his no was loud and clear"
referring to the degree to which a certain quality is present; "he was no heavier than a child" (同)no more
not in any degree or manner; not at all; "he is no better today"
quantifier; used with either mass nouns or plural count nouns for indicating a complete or almost complete lack or zero quantity of; "we have no bananas"; "no eggs left and no money to buy any"; "have you no decency?"; "did it with no help"; "Ill get you there in no time"
present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
any skin disorder involving abnormal redness

PrepTutorEJDIC

《名詞の前に置いて》『一つも』(『一人も,少しも』)・・・『ない』 / 《補語につけて》『決して・・・でない』 / 《省略文で》・・・なし;・・・お断り / 《話》少ししか(あまり)・・・ない / (肯定の問いに対して)『いいえ』;(否定の問いに対して)はい,ええ / 《not, norの前に挿入して》『いや』,否 / 《形容詞の前に置その形容詞を否定して》…どころではない / 《比較級の前に置いて》ちっとも…でない,…と全く同じ / 《… or no の形で》…であってもなくても / 《驚き・困惑・不信などを表して》とんでもない / 《単数形で》『拒否』,「『いいえ』」という返事 / 《複数形で》反対[投]票
(病気・身体的欠陥など)生まれつきの,先天的な

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/11/03 14:50:54」(JST)

wiki en

Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform erythroderma^[1]^:484 is a rare type the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births.

Symptoms

CIE has symptoms very similar to Lamellar ichthyosis (LI) but milder and is considered by many scientists to be a variant of that disease, so both diseases are grouped under the title autosomal recessive congenital ichthyosis (ARCI).^[2]

The baby is often born in a collodion membrane, a shiny, wax outer layer on the skin and usually with ectropion, having the lower eyelid turned outwards. When the membrane is shed the skin is red with a generalized white scale. Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin. In classical CIE (unlike LI) there is little eclabion (eversion of the lips), ectropion and alopecia (hair loss).

Many people with ACRI don't fit neatly into the definition of LI or CIE but have characteristics of both diseases. The definitions of CIE and LI describe the extremes of the range of ACRI. ^[3] ^[4]

Genetics

CIE is an autosomal recessive genetic disorder. This means you need to inherit a defective pair of genes (one from each parent) to show the symptoms. Parents who are carriers of the defective genes show no symptoms but their children have a 25% chance of having CIE.^{[citation needed]}

There are several genetic faults which can produce CIE. Known ones are in the transglutaminase-1 gene (TGM1), the 12R-lipoxygenase gene (ALOX12B), the lipoxygenase-3 gene (ALOXE3) and the ABHD5 gene.^[5]^:561

Defects in the ABHD5 gene produce a type of CIE called Neutral lipid storage disease (Chanarin-Dorfman syndrome).^[6]

Diagnosis

Treatment

References

^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ Lamellar ichthyosis/CIE - New concepts, new mutations., Recent Ichthyosis Research, F.I.R.S.T.
^ Congenital Ichthyosiform Erythroderma, Types of Ichthyosis, F.I.R.S.T
^ Congenital Ichthyosis Archived 2006-06-20 at the Wayback Machine., Rare Disease Registry, University of Padua, Italy
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosiform erythroderma, congenital, nonbullous, 1

External links

GeneReviews/NCBI/NIH/UW entry on Autosomal Recessive Congenital Ichthyosis

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. 皮膚剥脱症候群 peeling skin syndrome
3. 新生児における小水疱性および膿疱性の病変 vesiculobullous and pustular lesions in the newborn
4. 表皮母斑および表皮母斑症候群 epidermal nevus and epidermal nevus syndrome
5. 新生児および乳児の紅皮症 neonatal and infantile erythroderma

English Journal

Congenital Ichthyosis - Collodion Baby Case Report.

Srivastava P1, Srivastava A2, Srivastava P2, Betigeri AV1, Verma M3.
Journal of clinical and diagnostic research : JCDR.J Clin Diagn Res.2016 Jun;10(6):SJ01-2. doi: 10.7860/JCDR/2016/16397.7953. Epub 2016 Jun 1.
PMID 27504372
PMID 26370990

Dental Treatment of a Child Suffering from Non-bullous Congenital Ichthyosiform Erythroderma under General Anesthesia.

Choudhary R1, Satish V2.
International journal of clinical pediatric dentistry.Int J Clin Pediatr Dent.2015 May-Aug;8(2):157-62. doi: 10.5005/jp-journals-10005-1305. Epub 2015 Aug 11.
Non-bullous congenital ichthyosiform erythroderma (NBCIE) is an autosomal recessive form of inherited icthyosis appears as fine white scales that gradually replace collodion membrane. This case report describes management of 5 years and 11-month-old child with NBCIE suffering from early childhood ca
PMID 26379388

Japanese Journal

非水疱性先天性魚鱗癬様紅皮症患者に対する歯科治療の麻酔経験

佐古沙織,塚本真規,伊藤田翔子,全奈穂,加留部紀子,横山武志
日本歯科麻酔学会雑誌 41(2), 187-188, 2013-04-15
NAID 10031163422

Development of multiple non-melanoma skin carcinomas in a patient with non-bullous congenital ichthyosiform erythroderma

YASAR Sirin,MANSUR Ayse Tulin,AYDINGOZ Ikbal Esen,GOKTAY Fatih,TURKER Gamze Erfan,GUNES Pembegul
Journal of dermatology 38(8), 813-816, 2011-08-01
NAID 10031147096

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia

Natsuga Ken,Akiyama Masashi,Kato Naoko,Sakai Kaori,Sugiyama-Nakagiri Yoriko,Nishimura Machiko,Hata Hiroo,Abe Masataka,Arita Ken,Tsuji-Abe Yukiko,Onozuka Takashi,Aoyagi Satoru,Kodama Kazuo,Ujiie Hideyuki,Tomita Yuki,Shimizu Hiroshi
Journal of Investigative Dermatology 127(11), 2669-2673, 2007-11
NAID 120000951613

Related Pictures

Ichthyosiform Erythroderma, Congenital; Congenital Ichthyosiform Erythroderma Phenotypic Heterogeneity in Bullous Congenital Ichthyosiform Erythroderma: Possible non-bullous congenital ichthyosiform erythroderma histopathology - Loma Linda Congenital non-bullous ichthyosiform erythroderma

★リンクテーブル★

リンク元	「非水疱型先天性魚鱗癬様紅皮症」
関連記事	「congenita」「n」「bullous」「congenital」「non」

「非水疱型先天性魚鱗癬様紅皮症」

Congenital Ichthyosiform Erythroderma
Classification and external resources
Specialty	medical genetics
ICD-10	Q80.2
ICD-9-CM	757.1
OMIM	242100
DiseasesDB	33314
MeSH	D016113
	[edit on Wikidata]