Birt-Hogg-Dubé Syndrome Associated with a Renal Tumor / 대한내과학회지
Korean Journal of Medicine
;
: 379-382, 2019.
Article
in English
| WPRIM
| ID: wpr-759943
ABSTRACT
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder characterized by the formation of hair follicle tumors, kidney tumors, and pulmonary cysts with recurrent spontaneous pneumothorax. A 44-year-old woman visited Wonkwang University Hospital with mild dyspnea. A chest X-ray on admission revealed pneumothorax in both lung fields. Chest computed tomography (CT) revealed both pneumothorax and multiple, irregularly shaped, variable-sized cysts in both lung fields. Upon physical examination, white dome-shaped papules were observed on the face. Histological examination of the skin lesion confirmed fibrofolliculoma, and genetic studies revealed a folliculin gene mutation. Abdominal CT revealed a 1-cm small solid renal mass at the lower pole of the right kidney. We surgically removed the renal tumor, and a histological diagnosis of oncocytoma was made. Here, we report a case of BHD that demonstrated all three clinical manifestations; this is the first case report of its kind in Korea.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Physical Examination
/
Pneumothorax
/
Skin
/
Thorax
/
Tomography, X-Ray Computed
/
Adenoma, Oxyphilic
/
Hair Follicle
/
Diagnosis
/
Dyspnea
/
Estrone
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Korean Journal of Medicine
Year:
2019
Type:
Article
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