Genetic Study in a Case of Birt-Hogg-Dube Syndrome
Annals of Dermatology
; : S188-S192, 2011.
Article
en En
| WPRIM
| ID: wpr-200937
Biblioteca responsable:
WPRO
ABSTRACT
Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominantly inherited disorder characterized by multiple trichodiscomas, fibrofolliculomas, and acrocordons. There is also an increased risk of developing renal neoplasms and lung cysts/spontaneous pneumothorax. We present a 43-year-old man with multiple, 2~4 mm sized, dome-shaped, and skin-colored papules on his cheek and neck. On the basis of clinical finding and histopathologic examination on the cheek lesion, it was diagnosed as multiple trichodiscomas. Subsequently, molecular analysis revealed a mutation in the folliculin gene. We report a rare case of BHDS with a proved gene mutation.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Neumotórax
/
Mejilla
/
Estrona
/
Síndrome de Birt-Hogg-Dubé
/
Neoplasias Renales
/
Pulmón
/
Cuello
Límite:
Adult
/
Humans
Idioma:
En
Revista:
Annals of Dermatology
Año:
2011
Tipo del documento:
Article