Two Cases of Birt-Hogg-Dube Syndrome with Pulmonary Cysts / 대한내과학회지
Korean Journal of Medicine
;
: 477-483, 2014.
Artigo
em Coreano
| WPRIM
| ID: wpr-176489
ABSTRACT
Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax. Here, we report two cases of BHD syndrome that presented with bilateral pulmonary cysts. One patient was a 39-year-old woman who had a history of pneumothorax, multiple papules on her cheeks, and a family history of the same skin lesions and renal cell carcinoma in her father. BHD syndrome was confirmed by molecular tests that revealed a missense mutation in FLCN gene (exon 4, c.31T > C). The other patient was a 56-year-old man who showed FCLN gene polymorphism and typical radiopathological features of multiple cysts in the lung, but apparently no other manifestation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pneumotórax
/
Pele
/
Carcinoma de Células Renais
/
Bochecha
/
Mutação de Sentido Incorreto
/
Estrona
/
Pai
/
Síndrome de Birt-Hogg-Dubé
/
Pulmão
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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