Genetic Study in a Case of Birt-Hogg-Dube Syndrome
Annals of Dermatology
;
: S188-S192, 2011.
Article
Dans Anglais
| WPRIM
| ID: wpr-200937
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pneumothorax
/
Joue
/
Oestrone
/
Syndrome de Birt-Hogg-Dubé
/
Tumeurs du rein
/
Poumon
/
Cou
Limites du sujet:
Adulte
/
Humains
langue:
Anglais
Texte intégral:
Annals of Dermatology
Année:
2011
Type:
Article
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