loose skin

皮膚弛緩症

WordNet

1. not tight; not closely constrained or constricted or constricting; "loose clothing"; "the large shoes were very loose"
2. without restraint; "cows in India are running loose" (同)free
3. (of textures) full of small openings or gaps; "an open texture"; "a loose weave" (同)open
4. not tense or taut; "the old mans skin hung loose and grey"; "slack and wrinkled skin"; "slack sails"; "a slack rope" (同)slack
5. (of a ball in sport) not in the possession or control of any player; "a loose ball"
6. not carefully arranged in a package; "a box of loose nails"
7. not compact or dense in structure or arrangement; "loose gravel"
8. bruise, cut, or injure the skin or the surface of; "The boy skinned his knee when he fell" (同)scrape
9. a persons skin regarded as their life; "he tried to save his skin"
10. a bag serving as a container for liquids; it is made from the hide of an animal
11. an outer surface (usually thin); "the skin of an airplane"
12. a natural protective body covering and site of the sense of touch; "your skin is the largest organ of your body" (同)tegument, cutis
13. strip the skin off; "pare apples" (同)peel, pare
14. move along on skis; "We love to ski the Rockies"; "My children dont ski"
15. narrow wood or metal or plastic runners used in pairs for gliding over snow
16. a sport in which participants must travel on skis

PrepTutorEJDIC

1. 『結んでない』,解けている,ばらの / 『解き放たれた』,自由な(free) / 『緩い』,だぶだぶの;ぐらぐらの / 『散漫な』,不正確な,あいまいな / 大ざっぱな,漠然とした / (行為などが)だらしのない,ふしだらな / (織物などが)目の粗い / …‘を'『放す』,自由にする(set free) / …‘を'緩める;〈結び目など〉‘を'解く / 〈矢・弾丸など〉‘を'放つ,発射する
2. 〈U〉〈C〉(人・動物の)『皮膚』,肌 / 〈C〉〈U〉(動物からはいだ)『皮』,『毛皮』;皮製品,皮袋 / 〈C〉(果物・野菜の)皮 / 〈U〉〈C〉(液体の表面にできる)薄い膜,上皮 / 〈C〉(枠組み・表面などを覆う)外皮,外被,外板 / 〈動物・果物など〉‘の'皮をはぐ(むく) / 〈手・脚など〉‘を'擦りむく / 《話》(金などを)〈人〉‘から'巻き上げる《+『名』〈人〉+『of』+『名』》 / 〈傷口などが〉皮で覆われる《+『over』》
3. 『スキー』 / 『スキーで滑走する』 / …‘を'スキーで滑る / スキーの,スキー用の
4. (スポーツとしての)『スキー』;スキー術
5. 便所

UpToDate Contents

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• 1. 黒色腫の皮膚検査および臨床的特徴 skin examination and clinical features of melanoma
• 2. 皮膚膿瘍、癤（せつ、フルンケル）、および癰（よう） skin abscesses furuncles and carbuncles
• 3. ペニシリンの皮膚試験 penicillin skin testing
• 4. 環状皮膚病変が認められる患者に対するアプローチ approach to the patient with annular skin lesions
• 5. 皮膚の良性病変の概要 overview of benign lesions of the skin

English Journal

• A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

• Al-Bughaili M1, Neuhann TM2, Flöttmann R1, Mundlos S1,3,4, Spielmann M1,3, Kornak U1,3,4, Fischer-Zirnsak B1,3,4.
• Journal of human genetics.J Hum Genet.2016 Sep 8. doi: 10.1038/jhg.2016.111. [Epub ahead of print]
• Gerodermia osteodysplastica is a recessive segmental progeroid disorder mainly characterized by wrinkled skin, generalized connective tissue weakness, infantile onset osteoporosis and normal intelligence. Coding mutations in GORAB, localized on chromosome 1q24.2, are the cause of this disease. 1q24
• PMID 27604556

• Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.

• Bou-Assi E1, Bonniaud B2, Grimaldi M3, Faivre L4, Vabres P2.
• Pediatric dermatology.Pediatr Dermatol.2016 Sep 7. doi: 10.1111/pde.12969. [Epub ahead of print]
• We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonat
• PMID 27601358

• RIN2 syndrome: Expanding the clinical phenotype.

• Rosato S1, Syx D2, Ivanovski I1,3, Pollazzon M1, Santodirocco D1, De Marco L4, Beltrami M5, Callewaert B2, Garavelli L1, Malfait F2.
• American journal of medical genetics. Part A.Am J Med Genet A.2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8.
• Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. The condition was initially termed MACS syndrome (macrocephaly, alope
• PMID 27277385

Japanese Journal

• E-2 密着度の異なる4種類の着衣が人体の生理・心理反応に及ぼす影響(セッションE)

• 人間-生活環境系シンポジウム報告集 39, 179-182, 2015-11-16
• NAID 110010011549

• 3. Crohn病肛門病変に対する治療(<特集>炎症性腸疾患外科治療の最近の動向)

• 日本外科学会雑誌 116(2), 87-93, 2015-03-01
• NAID 110009919277

• Superficial CD34－positive fibroblastic tumorの1例

• Skin
• NAID 130005131679

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★リンクテーブル★

リンク元	「皮膚弛緩症」
関連記事	「loose」「skin」

「皮膚弛緩症」

　　[★]

英

loose skin, dermatochalasis, dermatochalazia, chalastodermia

ラ

cutis laxa

同

弛緩性皮膚, halazodermia, dermatomegaly

ICD-10

Q828

関

遺伝性皮膚疾患

概念

NEL.2717

• heterogenousな疾患概念
• 常染色体劣性(fibulin 5 gene)、常染色体優性(elastin and fibulin5 gene)、後天性
• 後天性のcutis laxaは無熱性疾患、炎症性皮膚疾患(紅斑性狼瘡、多型紅斑、アミロイドーシス、蕁麻疹、血管浮腫、ペニシリン過敏反応)に罹患した後に生じたり、あるいはペニシラミンを摂取した女性からの出生児に見られる。

遺伝子座

gene/locus	name	location	OMIM#
ADCL1	cutis laxa, autosomal dominant 1	14q32.1, 7q11.2	123700
ADCL2	cutis laxa, autosomal dominant 2		614434
ARCL1A	cutis laxa, autosomal recessive, type IA	14q32.1, 11q13	219100
ARCL1B	cutis laxa, autosomal recessive, type IB		614437
ARCL1C	cutis laxa, autosomal recessive, type IC	19q13.1-q13.2	613177
ARCL2A	cutis laxa, autosomal recessive, type IIA	12q24.3	219200
ARCL2B	cutis laxa, autosomal recessive, type IIB	17q25.3	612940
ARCL3A	cutis laxa, autosomal recessive, type IIIA		219150
ARCL3B	cutis laxa, autosomal recessive, type IIIB		614438
	cutis laxa, neonatal, with marfanoid phenotype		614100

鑑別診断

• エーラス・ダンロス症候群、フォン・レックリングハウゼン病(神経線維腫症1型)、弾性線維性仮性黄色腫

「loose」

　　[★]

• 緩い、疎性の

　 　 　 　 　 　 　 　

「skin」

　　[★]

• n.

• 皮膚