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present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
any skin disorder involving abnormal redness

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(病気・身体的欠陥など)生まれつきの,先天的な

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/21 21:20:46」(JST)

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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]

External links

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

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, 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

UpToDate Contents

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1. 遺伝性皮膚症 the genodermatoses
2. 表皮水疱症の診断 diagnosis of epidermolysis bullosa
3. シェーグレン・ラルソン症候群 sjogren larsson syndrome
4. 瘢痕性眼類天疱瘡 ocular cicatricial pemphigoid
5. 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

English Journal

Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: Results from a nationwide survey.

Kurosawa M, Takagi A, Tamakoshi A, Kawamura T, Inaba Y, Yokoyama K, Kitajima Y, Aoyama Y, Iwatsuki K, Ikeda S.SourceDepartment of Epidemiology and Environmental Health, Juntendo University Graduate School of Medicine, Tokyo, Japan. Electronic address: mic@juntendo.ac.jp.
Journal of the American Academy of Dermatology.J Am Acad Dermatol.2012 Nov 19. pii: S0190-9622(12)00784-0. doi: 10.1016/j.jaad.2012.06.044. [Epub ahead of print]
BACKGROUND: Detailed nationwide surveys of the epidemiologic and clinical characteristics of bullous congenital ichthyosiform erythroderma (BCIE) (novel synonym: keratinolytic ichthyosis) in a large population have not been performed previously to our knowledge.OBJECTIVE: We sought to estimate the n
PMID 23182068

A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters.

Karaca B.
Annals of Saudi medicine.Ann Saudi Med.2012 Sep-Oct;32(5):547-8. doi: 10.5144/0256-4947.2012.547.
PMID 22871629

Japanese Journal

感染性心内膜炎の治療中にリネゾリド耐性MRSAを検出した先天性魚鱗癬様紅皮症の1例

安達裕行,新井浩和,伊藤智夫,萱場広之,高橋勉
日本小児科学会雑誌 116(4), 699-704, 2012-04-01
NAID 10030557886

Clinical Manifestation and Classification of Japanese Patients with Inherited Keratinizing Disorders

IKEJIMA AYAKO,SUGA YASUSHI,MIZUNO YUKI [他]
順天堂医学 58(2), 135-142, 2012
NAID 40019320719

Related Pictures

★リンクテーブル★

リンク元	「先天性魚鱗癬様紅皮症」
拡張検索	「nonbullous congenital ichthyosiform erythroderma」「non-bullous congenital ichthyosiform erythroderma」「bullous congenital ichthyosiform erythroderma」
関連記事	「congenita」「congenital」