Elsevier

Respiratory Medicine

Volume 109, Issue 3, March 2015, Pages 289-296
Respiratory Medicine

Review
Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement

https://doi.org/10.1016/j.rmed.2014.11.008Get rights and content
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Summary

Background

Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.

Methods

We reviewed currently published literature on the main characteristics of BHDS.

Results

Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome.

Conclusions

Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.

Keywords

Birt-Hogg-Dubé
Imaging
Lung diseases
Computed tomography

Abberivations

BHDS
Birt-Hogg-Dubé syndrome
CT
computed tomography
FLCN
folliculin
HIF-1α
hypoxia-inducible factor 1-alpha
LAM
lymphangioleiomyomatosis
LCH
Langerhans cell histiocytosis
mTOR
mammalian target of rapamycin
TSC
tuberous sclerosis complex

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