Severe atopic dermatitis in a patient with Loeys-Dietz syndrome treated with dupilumab
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F23%3A43923761" target="_blank" >RIV/00064173:_____/23:43923761 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/23:43923761
Result on the web
<a href="https://doi.org/10.1111/jdv.18504" target="_blank" >https://doi.org/10.1111/jdv.18504</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/jdv.18504" target="_blank" >10.1111/jdv.18504</a>
Alternative languages
Result language
angličtina
Original language name
Severe atopic dermatitis in a patient with Loeys-Dietz syndrome treated with dupilumab
Original language description
We report the case of a 24 year old male patient with a genetically confirmed diagnosis of Loeys - Dietz syndrome who tested positive for the pathogenic variant c.1322C>T; p.(Ser441Phe) in exon 5 of the TGFBR2 gene (NM_003242.6). Since birth he was diagnosed with a common arterial trunk, a ventricular septal defect and an aneurysm of the patent arterial duct. He has gone through several cardiovascular surgical procedures and at the age of 12 he was treated for mediastinitis due to staphylococcal infection. He is on permanent coumarin-anticoagulant therapy.
Czech name
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Czech description
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Classification
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
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of the European Academy of Dermatology and Venereology
ISSN
0926-9959
e-ISSN
1468-3083
Volume of the periodical
37
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
3
Pages from-to
"e70"-"e72"
UT code for WoS article
000842987100001
EID of the result in the Scopus database
2-s2.0-85136458033