Birt Hogg Dube syndrome: Rare family lung disease

Simsek S. M., SAVAŞ R., TEMİZ P., ÇELİK P.

TUBERKULOZ VE TORAKS-TUBERCULOSIS AND THORAX, vol.69, no.1, pp.102-106, 2021 (ESCI, Scopus, TRDizin) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 69 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.5578/tt.20219913
  • Journal Name: TUBERKULOZ VE TORAKS-TUBERCULOSIS AND THORAX
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, CAB Abstracts, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.102-106
  • Manisa Celal Bayar University Affiliated: Yes

Abstract

Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas. It was first described in 1977 by Birt et al. In this case report, a patient who was diagnosed with symptoms and his first degree relative is presented. Diseases that should be considered in differential diagnosis are discussed. The diagnosis of this disease is usually made after recurrent pneumothorax. Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized.