皮膚弛緩症
WordNet
- stop filming; "cut a movie scene"
- cease, stop; "cut the noise"; "We had to cut short the conversation" (同)cut_off
- a wound made by cutting; "he put a bandage over the cut" (同)gash, slash, slice
- a share of the profits; "everyone got a cut of the earnings"
- a step on some scale; "he is a cut above the rest"
- grow through the gums; "The new tooth is cutting"
- have grow through the gums; "The baby cut a tooth"
- the act of cutting something into parts; "his cuts were skillful"; "his cutting of the cake made a terrible mess" (同)cutting
- the act of penetrating or opening open with a sharp edge; "his cut in the lining revealed the hidden jewels" (同)cutting
- the division of a deck of cards before dealing; "he insisted that we give him the last cut before every deal"; "the cutting of the cards soon became a ritual" (同)cutting
- the act of shortening something by chopping off the ends; "the barber gave him a good cut" (同)cutting, cutting off
- a trench resembling a furrow that was made by erosion or excavation (同)gash
- (sports) a stroke that puts reverse spin on the ball; "cuts do not bother a good tennis player" (同)undercut
- a canal made by erosion or excavation
- an unexcused absence from class; "he was punished for taking too many cuts in his math class"
- the act of reducing the amount or number; "the mayor proposed extensive cuts in the city budget"
- a piece of meat that has been cut from an animal carcass (同)cut of meat
- a distinct selection of music from a recording or a compact disc; "he played the first cut on the cd"; "the title track of the album" (同)track
- (film) an immediate transition from one shot to the next; "the cut from the accident scene to the hospital seemed too abrupt"
- the style in which a garment is cut; "a dress of traditional cut"
- create by duplicating data; "cut a disk"; "burn a CD" (同)burn
- (of a male animal) having the testicles removed; "a cut horse" (同)emasculated, gelded
- weed out unwanted or unnecessary things; "We had to lose weight, so we cut the sugar from our diet" (同)prune, rationalize, rationalise
- with parts removed; "the drastically cut film" (同)shortened
- intentionally fail to attend; "cut class" (同)skip
- (used of rates or prices) reduced usually sharply; "the slashed prices attracted buyers" (同)slashed
- style and tailor in a certain fashion; "cut a dress" (同)tailor
- mixed with water; "sold cut whiskey"; "a cup of thinned soup" (同)thinned, weakened
- (of pages of a book) having the folds of the leaves trimmed or slit; "the cut pages of the book"
- allow incision or separation; "This bread cuts easily"
- discharge from a group; "The coach cut two players from the team"
- dissolve by breaking down the fat of; "soap cuts grease"
- divide a deck of cards at random into two parts to make selection difficult; "Wayne cut"; "She cut the deck for a long time"
- fashioned or shaped by cutting; "a well-cut suit"; "cut diamonds"; "cut velvet"
- fell by sawing; hew; "The Vietnamese cut a lot of timber while they occupied Cambodia"
- form by probing, penetrating, or digging; "cut a hole"; "cut trenches"; "The sweat cut little rivulets into her face"
- form or shape by cutting or incising; "cut paper dolls"
- function as a cutting instrument; "This knife cuts well"
- give the appearance or impression of; "cut a nice figure"
- have a reducing effect; "This cuts into my earnings"
- hit (a ball) with a spin so that it turns in the opposite direction; "cut a Ping-Pong ball"
- make a recording of; "cut the songs"; "She cut all of her major titles again"
- make an abrupt change of image or sound; "cut from one scene to another"
- make an incision or separation; "cut along the dotted line"
- move (ones fist); "his opponent cut upward toward his chin"
- pass directly and often in haste; "We cut through the neighbors yard to get home sooner"
- pass through or across; "The boat cut the water"
- penetrate injuriously; "The glass from the shattered windshield cut into her forehead"
- perform or carry out; "cut a caper"
- reap or harvest; "cut grain"
- record a performance on (a medium); "cut a record"
- separate with or as if with an instrument; "Cut the rope"
- separated into parts or laid open or penetrated with a sharp edge or instrument; "the cut surface was mottled"; "cut tobacco"; "blood from his cut forehead"; "bandages on her cut wrists"
- shorten as if by severing the edges or ends of; "cut my hair"
- pronounced with muscles of the tongue and jaw relatively relaxed (e.g., the vowel sound in `bet'
- emptying easily or excessively; "loose bowels" (同)loose
- lacking in rigor or strictness; "such lax and slipshod ways are no longer acceptable"; "lax in attending classes"; "slack in maintaining discipline" (同)slack
- lacking in strength or firmness or resilience; "a lax rope"; "a limp handshake"
- the syllable naming the sixth (submediant) note of a major or minor scale in solmization (同)lah
PrepTutorEJDIC
- (刃物などで)…'を'『切る』,傷つける / (刃物などで)…'を'『切断する』,切り分ける;〈草・作物・髪など〉'を'刈り取る / 〈像・文様など〉'を'『刻む』,彫る;〈石・宝石など〉'を'刻む;みがく;〈衣服など〉'を'裁断する / 《比喩(ひゆ)的に》〈人,人の心〉'を'切る,傷つける;〈寒さなどが〉…‘の'身を切る / (…から)…'を'『削除する』《+『名』+『from』(『out of』)+『名』》 / …'を'減らす,削減する;(…で)…'を'薄める《+『名』+『with』+『名』》 / …'を'横切る,‘と'交差する / …'を'掘る,切り開く / …'を'止める / 〈歯〉'を'はやす / 《話》(わざと)…'を'知らないふりをする,のけものにする / 《話》〈授業など〉'を'さぼる,欠席する / (カードゲームで)〈一組の札〉'を'切る / (テニス・卓球などで)〈ボール〉'を'カットする / 《しばしば状態を表す副詞[句]を伴って》〈刃物が〉『切れる』;〈物が〉切られる / 〈物事が〉身を切るように痛い;感情をひどく傷つける / (…へ)急に方向を変える《+『to』+『名』》 / (…への)切り傷,刻み目《+『on』(『in』)+『名』》 / (刃物の)一切り,(むちなどの)一打ち / (…の)断片(特に,切り取った肉など),切り身《+『of』+『名』》 / (…の)削減,(値段の)割引き,(賃金の)引下げ《+『in』+『名』》 / (…の)切り方,裁ち方,刈り方《+『of』+『名』》 / (テニス・卓球などで)ボールを切ること / 横断路,通り抜け路 / 切り通し;掘り割り / 木版[画];(印刷用の)金属板;さし絵,カット / (…に対する)感情を傷つける言葉(行為);しんらつな言葉,冷酷な仕打ち《+『at』+『名』》 / 《話》分け前,配前(share)
- (法などが)『厳格でない』,手ぬるい / だらしない,たるんだ;(…に)いいかげんな《+『about』+『名』(do『ing』)》 / 『ゆるんだ』
- ラ(全音階の第6音)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/11/22 22:58:06」(JST)
[Wiki en表示]
Cutis laxa |
Classification and external resources |
Specialty |
medical genetics |
ICD-10 |
L57.4, Q82.8 (ILDS Q82.816) |
ICD-9-CM |
701.8, 756.83 |
OMIM |
123700 219100 219200 304150 |
DiseasesDB |
29439 |
eMedicine |
derm/03 |
MeSH |
D003483 |
GeneReviews |
- FBLN5-Related Cutis Laxa
- ATP6V0A2-Related Cutis Laxa
- EFEMP2-Related Cutis Laxa
- ATP7A-Related Copper Transport Disorders
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"Dermatochalasia" redirects here. For the medical condition affecting eyelids, see Dermatochalasis.
Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis,[1] or Pachydermatocele[2]) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.[3]
Contents
- 1 Causes
- 2 Presentation
- 3 See also
- 4 References
- 5 External links
Causes
In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.
Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix.[4]Various mutations in genes have been identified.
Cutis laxa may be caused by mutations in the genes: ELN,[5] ATP6V0A2,[6] ATP7A,[7] FBLN4,[8] FBLN5,[9] and PYCR1.[10] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.[11]
Presentation
It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart (supravalvular pulmonary stenosis), intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed. Patients also present with blue sclera.
See also
- Ehlers-Danlos syndrome
- Gerodermia osteodysplastica
- Occipital horn syndrome
- List of cutaneous conditions
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.
- ^ Millington, P (2009). Skin. Cambridge University Press. p. 100. ISBN 978-0-521-10681-8.
- ^ Plopper G (2007). The extracellular matrix and cell adhesion, in Cells (eds Lewin B, Cassimeris L, Lingappa V, Plopper G). Sudbury, MA: Jones and Bartlett. ISBN 0-7637-3905-7.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Dominant -123700
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Recessive, Type II -219200
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, X-Linked -304150
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Recessive, Type I -219100
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Fibulin 5; FBLN5 -604580
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Pyrroline-5-Carboxylate Reductase 1; PYCR1 -179035
- ^ Online 'Mendelian Inheritance in Man' (OMIM) Aldehyde Dehydrogenase 18 Family, Member A1; ALDH18A1 -138250
External links
- Van Maldergem, Lionel; Loeys, Bart (2011-10-13). FBLN5-Related Cutis Laxa. NBK5201. In Pagon RA, Bird TD, Dolan CR; et al., eds. (1993). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
- Van Maldergem, Lionel; Dobyns, William; Kornak, Uwe (2011-05-10). ATP6V0A2-Related Cutis Laxa. NBK5200. In GeneReviews
- Loeys, Bart; De Paepe, Anne; Urban, Zsolt (2011-05-12). EFEMP2-Related Cutis Laxa. NBK54467. In GeneReviews
- G Kaler, Stephen (2010-10-14). ATP7A-Related Copper Transport Disorders. NBK1413. In GeneReviews
- Medscape entry on Cutis Laxa
Radiation-related disorders / Photodermatoses (L55–L59, 692.7)
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Ultraviolet/ionizing |
- Sunburn
- Phytophotodermatitis
- Solar urticaria
- Polymorphous light eruption
- Benign summer light eruption
- Juvenile spring eruption
- Acne aestivalis
- Hydroa vacciniforme
- Solar erythema
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Nonionizing |
- Actinic rays: Actinic keratosis
- Atrophic actinic keratosis
- Hyperkeratotic actinic keratosis
- Lichenoid actinic keratosis
- Pigmented actinic keratosis
- Actinic cheilitis
- Actinic granuloma
- Actinic prurigo
- Chronic actinic dermatitis
- Infrared/heat: Erythema ab igne (Kangri ulcer
- Kairo cancer
- Kang cancer
- Peat fire cancer )
- Cutis rhomboidalis nuchae
- Poikiloderma of Civatte
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Other |
- Radiation dermatitis
- Chronic radiodermatitis)
- Favre–Racouchot syndrome
- Photoaging
- Photosensitivity with HIV infection
- Phototoxic tar dermatitis
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Index of skin
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Description |
- Anatomy
- Physiology
- Development
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Disease |
- Infections
- Vesiculobullous
- Dermatitis and eczema
- Papulosquamous
- Urticaria and erythema
- Radiation-related
- Pigmentation
- Mucinoses
- Keratosis, ulcer, atrophy, and necrobiosis
- Vasculitis
- Fat
- Neutrophilic and eosinophilic
- Congenital
- Neoplasms and cancer
- nevi and melanomas
- epidermis
- dermis
- Symptoms and signs
- Terminology
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Treatment |
- Procedures
- Drugs
- antibiotics
- disinfectants
- emollients and protectives
- itch
- psoriasis
- other
- Wound and ulcer
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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.
English Journal
- The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene.
- Park KJ1, Park JH1, Park JH2, Cho EB3, Kim BJ4, Kim JW1,5.
- Annals of laboratory medicine.Ann Lab Med.2016 May;36(3):259-262. doi: 10.3343/alm.2016.36.3.259.
- Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilate
- PMID 26915616
- [Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features].
- Gusdorf L1, Mitcov M2, Maradeix S3, Cunat S4, Martin L5, Cribier B2.
- Annales de dermatologie et de venereologie.Ann Dermatol Venereol.2016 Mar 1. pii: S0151-9638(16)00050-8. doi: 10.1016/j.annder.2015.11.010. [Epub ahead of print]
- BACKGROUND: Pseudoxanthoma elasticum (PXE)-like syndrome is characterized by the association of PXE and cutis laxa (CL) features with a deficiency of vitamin K-dependent clotting factors. It was first described in 1971 and was identified as a distinct genetic entity in 2007 with analysis of the GGCX
- PMID 26944767
- Developmental retardation in postinflammatory elastolysis and cutis laxa.
- Sharma PK, Meena N1, Bhardwaj M, Dixit N.
- Indian journal of dermatology, venereology and leprology.Indian J Dermatol Venereol Leprol.2016 Mar-Apr;82(2):195-7. doi: 10.4103/0378-6323.164212.
- PMID 26345649
Japanese Journal
- Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32
- JELANI Musharraf,TARIQ Muhammad,JAN Iftikhar Ahmad,ULLAH Hazrat,NAEEM Muhammad,AHMAD Wasim
- Journal of dermatological science 61(2), 134-136, 2011-02-01
- NAID 10030890191
- Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity
- LEE Woo Jin,BAK Hana,CHANG Sung Eun,LEE Mi Woo,CHOI Jee Ho,MOON Kee Chan,KOH Jai Kyoung
- Journal of dermatology 36(5), 288-292, 2009-05-01
- NAID 10027063432
Related Pictures
★リンクテーブル★
[★]
- 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
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name
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location
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OMIM#
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ADCL1
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cutis laxa, autosomal dominant 1
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14q32.1, 7q11.2
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123700
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ADCL2
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cutis laxa, autosomal dominant 2
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614434
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ARCL1A
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cutis laxa, autosomal recessive, type IA
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14q32.1, 11q13
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219100
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ARCL1B
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cutis laxa, autosomal recessive, type IB
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614437
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ARCL1C
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cutis laxa, autosomal recessive, type IC
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19q13.1-q13.2
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613177
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ARCL2A
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cutis laxa, autosomal recessive, type IIA
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12q24.3
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219200
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ARCL2B
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cutis laxa, autosomal recessive, type IIB
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17q25.3
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612940
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ARCL3A
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cutis laxa, autosomal recessive, type IIIA
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219150
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ARCL3B
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cutis laxa, autosomal recessive, type IIIB
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614438
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cutis laxa, neonatal, with marfanoid phenotype
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614100
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鑑別診断
[★]
- (過去-過去分詞も同形)カットする、切る、削除する
- 関
- cancellation、delete、deletion、efface
[★]
- 関
- corium、cutaneous、dermal、dermis、skin