Familiäre pulmonale Zysten und papulöse Hauteffloreszenzen bei einer 37-jährigen Patientin

Zusammenfassung

Eine 37-jährige Patientin stellte sich mit plötzlich aufgetretener Luftnot und thorakalen Schmerzen vor. Bei der Patientin und bei zwei Familienmitgliedern hatten sich in der Vergangenheit bereits mehrmals Spontanpneumothoraces ereignet. Die Patientin wies zudem papulöse Hauteffloreszenzen im Gesicht auf. Radiomorphologisch sah man einen Pneumothorax links apikal und basal betonte zystische Lungenveränderungen beidseits. Therapeutisch erfolgten eine Pleurodese und mehrere Keilresektionen mit Einlage einer Drainage links. Histologisch fanden sich multiple Zysten, wobei immunhistochemisch typische Differenzialdiagnosen ausgeschlossen werden konnten. Eine molekulargenetische Untersuchung wies eine heterozygote Mutation des Follikulin (FLCN)-Gens nach. Somit wurde ein Birt-Hogg-Dubé Syndrom (BHDS) diagnostiziert. Das BHDS unterliegt einem autosomal dominanten Erbgang und zeichnet sich durch zystische Lungenveränderungen mit rezidivierenden Pneumothoraces, kutanen Fibrofollikulomen und einem erhöhten Risiko für Nierenzellkarzinome aus. Es geht mit Mutationen im für das Protein FLCN kodierenden Gen auf Chromosom 17 einher.

Abstract

A 37-year-old female patient presented with sudden dyspnea and chest pain. Spontaneous pneumothoraces had been observed several times before in this patient and two members of the patient´s family in the last years. Moreover, she exhibited papular facial skin lesions. Radiomorphologically a pneumothorax apical on the left side and basal accentuated cystic lung destruction on both sides could be seen. Pleurodesis and several wedge resections with insertion of a drainage on the left side were performed therapeutically. Histology disclosed multiple cysts, whereby typical differential diagnoses could be excluded by immunohistochemistry. A molecular genetic investigation detected a heterozygous mutation in the gene coding for follikulin (FLCN). Thereby, Birt-Hogg-Dubé syndrome (BHDS) was diagnosed. BHDS follows autosomal dominant inheritance and is characterized by cystic lung lesions with recurrent pneumothoraces, cutaneous fibrofolliculomas and an increased risk of renal carcinomas. It is based on mutations in the gene coding for the protein FLCN on chromosome 17.

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