Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Tatiana A. Gaydina"'
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
SummaryBrooke–Spiegler syndrome (BSS) is an autosomal dominant disease associated with the CYLD gene, which manifests itself as multiple benign skin tumors. We presented a young female patient with a previously undescribed heterozygous de novo muta
Externí odkaz:
https://doaj.org/article/75ac578e1c324f5fa439760c8cb9559d
Publikováno v:
Vestnik Dermatologii i Venerologii, Vol 99, Iss 2, Pp 48-62 (2023)
The incidence of skin melanoma in the world is growing every year. Despite advances in diagnostics, the identification of the primary focus of melanoma in some cases is still difficult. The natural course sometimes manifests only with the appearance
Externí odkaz:
https://doaj.org/article/1f564f25621a4e94b164aeb2f2095e8f
Publikováno v:
Vestnik Dermatologii i Venerologii, Vol 98, Iss 4, Pp 85-94 (2022)
The article presents a clinical case of annular elastolytic giant cell granuloma (AEGCG) in a young patient with a vascular type of EhlersDanlos syndrome. The first clinical manifestations of AEGCG appeared on the skin in the right subclavian area ab
Externí odkaz:
https://doaj.org/article/a4cbac7e98054587a5c76e2cd1b72392
Differential diagnosis of Brooke–Spiegler syndrome in a young woman with multiple trichoepitheliomas
Autor:
Tatiana A. Gaydina, Anton S. Dvornikov, Polina A. Skripkina, Olga I. Patsap, Anastasiia A. Buianova
Publikováno v:
Russian Journal of Skin and Venereal Diseases. 25:5-16
BrookeSpiegler syndrome (Brooke-Spiegler syndrome; OMIM #605041) is a rare, autosomal dominant inherited monogenic disease caused by mutations in gene CYLD with its different penetrance. It is clinically manifested by the development of multiple neop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86edcd193b32fac3d94c8f5e1a060f9f
https://doi.org/10.17816/dv112260
https://doi.org/10.17816/dv112260