関: harlequin ichthyosis、lamellar ichthyosis

WordNet

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

PrepTutorEJDIC

(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）』「2013/04/01 11:46:45」(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. 遺伝性の魚鱗癬の概要 overview of the inherited ichthyoses
2. シェーグレン・ラルソン症候群 sjogren larsson syndrome
3. 遺伝性皮膚症 the genodermatoses
4. 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
5. 表皮水疱症の診断 diagnosis of epidermolysis bullosa

English Journal

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

Sugiura K1, Akiyama M2.
Journal of dermatological science.J Dermatol Sci.2015 Jul;79(1):4-9. doi: 10.1016/j.jdermsci.2015.04.009. Epub 2015 Apr 30.
Research on the molecular genetics and pathomechanisms of autosomal recessive congenital ichthyosis (ARCI) has advanced considerably and several causative genes and molecules underlying the disease have been identified. Three major ARCI phenotypes are harlequin ichthyosis (HI), lamellar ichthyosis (
PMID 25982146

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Moosbrugger-Martinz V1, Jalili A2, Schossig AS3, Jahn-Bassler K2, Zschocke J3, Schmuth M1, Stingl G2, Eckl KM4, Hennies HC4, Gruber R1,4.
The British journal of dermatology.Br J Dermatol.2015 Jun;172(6):1628-32. doi: 10.1111/bjd.13545. Epub 2015 Mar 18.
Autosomal recessive exfoliative ichthyosis (AREI) results from mutations in CSTA, encoding cysteine protease inhibitor A (cystatin A). We present a 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse
PMID 25400170

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene.

Suga Y1, Tsuda T2, Nagai M2, Sakaguchi Y2, Jitsukawa O2, Yamamoto M2, Hitomi K3, Yamanishi K2.
The Journal of dermatology.J Dermatol.2015 Jun;42(6):642-5. doi: 10.1111/1346-8138.12846. Epub 2015 Mar 21.
We report a case of a 12-year-old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother showed a similar skin condition. Arcuate-shaped, large, brownish scales covered his face with ectropion. His lower legs were also covered with lar
PMID 25808943