英: chalazodermia
関: 皮膚弛緩症

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/03/20 02:06:18」(JST)

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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.

Causes[edit]

In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.

In patients suffering from cutis laxa, mutations in the elastic fibers comprising the dermis have been identified.

Cutis laxa may be caused by mutations in the genes: ELN,^[3] ATP6V0A2,^[4] ATP7A,^[5]FBLN4,^[6] FBLN5,^[7] and PYCR1.^[8] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.^[9]

Presentation[edit]

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.

References[edit]

^ 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.
^ 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[edit]

DermAtlas 143
Van Maldergem, Lionel; Loeys, Bart (2011-10-13). FBLN5-Related Cutis Laxa. NBK5201. In Pagon RA, Bird TD, Dolan CR, et al., ed. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in: |date= (help)
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

English Journal

The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa.

Uitto J, Li Q, Urban Z.SourceDepartment of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
Experimental dermatology.Exp Dermatol.2013 Feb;22(2):88-92. doi: 10.1111/exd.12025. Epub 2012 Oct 23.
Elastic fibres are critical connective tissue components providing elasticity and resilience to skin and other tissues. These fibres are composed of elastin and a number of elastin-associated microfibrillar proteins that assemble in a complex fibre network in a multi-step process. Multiple cellular
PMID 23088642

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS.SourceDepartment of Pediatrics, Genetics division, King AbdulAziz Medical City, Riyadh, Saudi Arabia, eyaidw@ngha.med.sa.
Journal of inherited metabolic disease.J Inherit Metab Dis.2013 Jan 12. [Epub ahead of print]
PURPOSE: Transaldolase deficiency is a recently described inborn error of pentose phosphate pathway. We conducted this study to further delineate the associated phenotype.METHODS AND RESULTS: We report on 12 new cases representing six families with this metabolic defect that were observed over an 8�
PMID 23315216

Japanese Journal

いわゆるDermatomegalyについて異所的発生をみた母斑性脳回転状皮膚

田久保浩 [他]
皮膚科の臨床 11(9), 730-735, 1969-09
NAID 40018449622

Related Pictures

Generalized elastolysis N16A00_P_02_02 List of cutaneous conditions List of skin conditions - Wikipedia Red Scaly Patch On Skin ItchyDownload Free Software Programs Online - gourmetblogs

★リンクテーブル★

リンク元	「皮膚弛緩症」「弛緩性皮膚」

「皮膚弛緩症」

Cutis laxa
	Classification and external resources
ICD-10	L57.4, Q82.8 (ILDS Q82.816)
ICD-9	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;

　　[★]

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

「弛緩性皮膚」

　　[★]

英: dermatomegaly
関: 皮膚弛緩症

[Bolognia-1] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.

[3] Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Dominant -123700

[4] Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Recessive, Type II -219200

[5] Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, X-Linked -304150

[6] Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Recessive, Type I -219100

[7] Online 'Mendelian Inheritance in Man' (OMIM) Fibulin 5; FBLN5 -604580

[8] Online 'Mendelian Inheritance in Man' (OMIM) Pyrroline-5-Carboxylate Reductase 1; PYCR1 -179035

[9] Online 'Mendelian Inheritance in Man' (OMIM) Aldehyde Dehydrogenase 18 Family, Member A1; ALDH18A1 -138250

匿名

検索

案内

案内

dermatomegaly