English Journal
- The Genetics of Soft Connective Tissue Disorders.
- Vanakker O1, Callewaert B, Malfait F, Coucke P.
- Annual review of genomics and human genetics.Annu Rev Genomics Hum Genet.2015 May 18. [Epub ahead of print]
- Over the last few years, the field of hereditary connective tissue disorders has changed tremendously. This review highlights exciting insights into three prototypic disorders affecting the soft connective tissue: Ehlers-Danlos syndrome, pseudoxanthoma elasticum, and cutis laxa. For each of these di
- PMID 26002060
- Differences in genetic signaling, and not mechanical properties of the wall, are linked to ascending aortic aneurysms in fibulin-4 knockout mice.
- Kim J1, Procknow JD1, Yanagisawa H2, Wagenseil J3.
- American journal of physiology. Heart and circulatory physiology.Am J Physiol Heart Circ Physiol.2015 May 1:ajpheart.00178.2015. doi: 10.1152/ajpheart.00178.2015. [Epub ahead of print]
- Fibulin-4 is an extracellular matrix protein that is essential for proper assembly of arterial elastic fibers. Mutations in fibulin-4 cause cutis laxa with thoracic aortic aneurysms (TAAs). Sixty percent of TAAs occur in the ascending aorta. Newborn mice lacking fibulin-4 (Fbln4-/-) have aneurysms i
- PMID 25934097
- Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
- Al-Shamsi AM1, Ben-Salem S, Hertecant J, Al-Jasmi F.
- European journal of pediatrics.Eur J Pediatr.2015 May;174(5):661-8. doi: 10.1007/s00431-014-2449-5. Epub 2014 Nov 12.
- Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and cardiac abnormalities, and urinary excretion of polyols. This report describes four Emirati patie
- PMID 25388407
Related Links
- Dermatochalazia information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Search Specialists by State and City
- der·ma·to·chal·a·zia (dur″mə to kəl aґzhə) cutis laxa ... Direct link … Do a right-click on the link above and select “Copy Link”
Related Pictures
★リンクテーブル★
| リンク元 | 「皮膚弛緩症」 |
「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 |