Birt-Hogg-Dubé Syndrome Associated with a Renal Tumor / 대한내과학회지
Korean Journal of Medicine
;
: 379-382, 2019.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Exame Físico
/
Pneumotórax
/
Pele
/
Tórax
/
Tomografia Computadorizada por Raios X
/
Adenoma Oxífilo
/
Folículo Piloso
/
Diagnóstico
/
Dispneia
/
Estrona
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Korean Journal of Medicine
Ano de publicação:
2019
Tipo de documento:
Artigo
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