Acral peeling skin syndrome: An underdiagnosed skin disorder

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F19%3A00077986" target="_blank" >RIV/00023001:_____/19:00077986 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/19:43917613 RIV/00064211:_____/19:W0000019
Result on the web
<a href="http://www.ijdvl.com/article.asp?issn=0378-6323;year=2019;volume=85;issue=3;spage=316;epage=318;aulast=Sticova" target="_blank" >http://www.ijdvl.com/article.asp?issn=0378-6323;year=2019;volume=85;issue=3;spage=316;epage=318;aulast=Sticova</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4103/ijdvl.IJDVL_3_18" target="_blank" >10.4103/ijdvl.IJDVL_3_18</a>

Result language
angličtina
Original language name
Acral peeling skin syndrome: An underdiagnosed skin disorder
Original language description
Acral peeling skin syndrome is a rare genodermatosis characterized by shedding of the superficial layers of the epidermis with blister formation. The most important underlying genetic defect, homozygous or compound heterozygous mutation in TGM5 gene localized to chromosome 15q15, is responsible for inhibition of cross-linking activity of the transglutaminase-5 enzyme, the process essential for terminal differentiation of the epidermis to form the cornified cell envelope. Moreover, mutations in the CSTA gene localized to chromosome 3q21.1, encoding cystatin A, a protease inhibitor found in the cornified cell envelope, have been identified in several patients with acral peeling skin syndrome.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30216 - Dermatology and venereal diseases

Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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