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Brooke-Spiegler-Syndrom

Zuletzt geändert von Thomas Brinkmeier am 2023/08/03 23:18

Brooke-Spiegler-Syndrom

Engl: Brooke-Spiegler syndrome, turban tumor syndrome, familial cylindromatosis

Gen: - heterogene Mutation im CYLD-Gen, lokalisiert auf 16q12-q13

- autosomal dominant

Note: Das kutane CYLD-Syndrom ist eine umfassende Bezeichnung für die vererbten kutanen Adnextumor-Syndrome Brooke-Spiegler-Syndrom (OMIM 605041), familiäre Zylindromatose (OMIM 132700) und multiple familiäre Trichoepitheliome (OMIM 601606). Alle drei Syndrome entstehen durch keimbahnpathogene Varianten in CYLD, einem Tumorsuppressorgen (OMIM 605018).

Lit: Appl Clin Genet. 2021 Oct 29;14:427-444. http://doi.org/10.2147/TACG.S288274

HV: Zylindrome, Trichoepitheliome, ekkrine Spiradenome

Verl: erhöhtes Risiko für maligne Transformation

Lit: -  

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- Indian J Dermatol Venereol Leprol. 2021 Feb 24:1-2. http://doi.org/10.25259/IJDVL_355_20

- Int J Surg Case Rep. 2018;51:277-281. http://doi.org/10.1016/j.ijscr.2018.08.021

- Skin Appendage Disord. 2021 Jun;7(4):326-328. http://doi.org/10.1159/000514855

  
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