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- Publisher
- Wiley
- Copyright
- © 2018 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.
- ISSN
- 1610-0379
- eISSN
- 1610-0387
- DOI
- 10.1111/ddg.13457_g
- Publisher site
- See Article on Publisher Site
Abstract
Das Birt‐Hogg‐Dubé‐Syndrom (BHD‐Syndrom, eigentlich Hornstein‐Knickenberg‐ Syndrom) ist ein autosomal dominant erbliches Tumorsyndrom, welches durch Mutationen im FLCN‐Gen auf Chromosom 17 verursacht wird. Patienten mit BHD‐Syndrom können altersabhängig verschiedene Symptome zeigen, deren Ausprägung auch innerhalb einer Familie unterschiedlich schwer sein kann. Ein frühes Symptom sind basal betonte Lungenzysten, welche Ursache wiederholter Spontanpneumothoraces sein können. Die Mehrheit der Patienten (> 90 %) entwickelt im mittleren Lebensalter zahlreiche Fibrofollikulome vor allem im Gesicht und am Oberkörper. Für die Prognose entscheidend ist eine gezielte Tumorvorsorge, da ein Lebenszeitrisiko von 12–34 % für benigne und maligne Nierentumoren besteht. Die Nierentumoren beim BHD‐Syndrom können verschiedenen histologischen Subgruppen angehören, wobei multifokale, auch bilaterale Hybridtumoren mit chromophoben und onkozytären Anteilen häufig sind. Die frühzeitige Diagnosestellung ebenso wie die langfristige Betreuung von Familien mit BHD‐Syndrom erfordern eine interdisziplinäre Zusammenarbeit.
Journal
Journal Der Deutschen Dermatologischen Gesellschaft – Wiley
Published: Jan 1, 2018