Birt-Hogg-Dubé syndrome: Answering questions raised by a case report published in 1962

Pashtoon Murtaza Kasi, Daniel T. Dearmond

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

In 1962, J.J. Collins from the United States Naval Medical Research Laboratory published an unusual case of air embolism precipitated by decompression in TheNew England Journal of Medicine [1962;266:595-598]. The case was unusual because it was the first where multiple pulmonary cysts were discovered after a successful recompression treatment. Although various hypotheses were put forward by the author, it was thought that the diver might have had 'subclinical cysts' already present because of some disease phenomenon, which then became overinflated during decompression. Nearly 50 years have passed since these questions were raised. Interestingly, now the disease process is trying to unveil itself through various other clues. We present the case of the same diver who later developed a series of other medical problems, along with more than 5 admissions for spontaneous pneumothoraces, all falling into the constellation represented by the Birt-Hogg-Dubé syndrome. Birt-Hogg-Dubé syndrome is an autosomal dominant condition clinically characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. It was first described in 1977 by Birt, Hogg and Dubé in a family with 'hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons'. Spontaneous pneumothorax can be the first manifestation of this hereditary condition, and prevention in patients diagnosed with the syndrome is aimed at early diagnosis and treatment of the renal cell carcinoma. Physicians need to have a high index of suspicion when they see patients with the constellation of findings of this underdiagnosed syndrome, especially in patients with unexplained spontaneous pneumothoraces.

Original languageEnglish (US)
Pages (from-to)363-366
Number of pages4
JournalCase Reports in Oncology
Volume4
Issue number2
DOIs
StatePublished - May 2011
Externally publishedYes

Fingerprint

Pneumothorax
Cysts
Decompression
Birt-Hogg-Dube Syndrome
Air Embolism
Lung
Kidney Neoplasms
Renal Cell Carcinoma
England
Biomedical Research
Early Diagnosis
Medicine
Physicians
Skin
Therapeutics

Keywords

  • Birt-Hogg-Dubé syndrome
  • Cancer
  • Folliculin gene
  • Melanoma
  • Renal cell carcinoma
  • Spontaneous pneumothorax
  • Tumor supressor gene

ASJC Scopus subject areas

  • Oncology

Cite this

Birt-Hogg-Dubé syndrome : Answering questions raised by a case report published in 1962. / Kasi, Pashtoon Murtaza; Dearmond, Daniel T.

In: Case Reports in Oncology, Vol. 4, No. 2, 05.2011, p. 363-366.

Research output: Contribution to journalArticle

Kasi, Pashtoon Murtaza ; Dearmond, Daniel T. / Birt-Hogg-Dubé syndrome : Answering questions raised by a case report published in 1962. In: Case Reports in Oncology. 2011 ; Vol. 4, No. 2. pp. 363-366.
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