Conclusion
It is of particular interest to the pulmonologist that multiple different mutations in the gene encoding folliculin have been found in several families with familial spontaneous pneumothorax. These families represent part of the phenotypic spectrum of Birt-Hogg-Dubé syndrome, with the pneumothorax being one of the first presenting manifestations of the syndrome. While all patients with familial spontaneous pneumothorax should be evaluated for Marfan syndrome, Ehlers-Danlos syndrome and α1-antitrypsin deficiency, one should also look carefully for skin folliculomas and ask about a personal or family history of renal cancer. High-resolution CT scans of the chest documenting the presence of pulmonary cysts and their distribution may provide important clues to this disorder.
The authors wish to thank all the families and individuals that participated in this research, and Melissa Nolasco for technical expertise.
Funding informationThis work is supported by NIH grant IK23RR02063201. C.K.G. is a Parker B. Francis Fellow in Pulmonary Research and a Charles E. Culpeper Medical Scholar.
CT = computed tomography.
Correspondence to Christine Kim Garcia, MD, PhD, Assistant Professor, McDermott Center for Human Growth and Development, Department of Internal Medicine, Division of Pulmonary Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8591, USA Tel: +1 214 648 1600; fax: +1 214 648 1666; e-mail: Christine.garcia@utsouthwestern.edu
Curr Opin Pulm Med. 2006;12(4):268-272. © 2006 Lippincott Williams & Wilkins
Cite this: Familial Spontaneous Pneumothorax - Medscape - Jul 01, 2006.
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