Журнал клинических случаев

Brit Hogg Dube Syndrome - A Rare Disease Entity with Review of Literature

Abstract

Rashmi K, Arbind D, Patanjali C and Kunal G

Introduction: Birt-Hogg-Dubé Syndrome is very uncommon in the North America. Several families have been reported since Birt, Hogg, and Dubé described the original kindred in 1977. Birt-Hogg-Dubé Syndrome (BHDS) is inherited in an autosomal dominant pattern and may be due to inactivation of a tumor-suppressor gene, which results in the various skin lesions such as cutaneous hamartomas and risk of internal malignancies. We report a rare case of Birt-Hogg-Dubé Syndrome who presented with lung sarcoma no skin manifestation which is the usual presentation as seen in literature. Case Report: A 25-year-old female presented with some vague chest and abdominal symptoms. CT of the chest showed a mass in the left upper lobe and a cyst in the lung. She underwent left side upper lobectomy. Pathology reported low grade sarcoma, but was otherwise nonspecific. She had small lung cysts in lower lobe consistent with a history of Birt-Hogg-Dube syndrome. At 3 years follow up, patient doing very well. Genetic testing confirmed syndrome in family. Discussion: Mortality and morbidity associated with Birt-Hogg-Dubé syndrome is related to internal manifestations such as pneumothorax or renal cell carcinoma. The morbidity of cutaneous lesions is limited to cosmetic appearance. Surgical removal has provided definitive treatment of solitary perifollicular fibromas. Birt-Hogg-Dubé syndrome patients with a history of smoking appear to have more severe lung disease than those who do not smoke. Conclusion: Birt-Hogg-Dubé Syndrome (BHDS) cannot be prevented, but associated findings of renal carcinoma, pulmonary cysts and pneumothorax can be monitored. Birt-Hogg-Dubé syndrome patients should be counseled regarding the increased risk of pneumothorax with activities altering ambient pressure, such as scuba diving and air travel, particularly if they have chest pain or shortness of breath. Smoking cessation in BHDS patients should be strongly encouraged.