[New mutation in the Birt Hogg Dube gene].
Patients with Birt-Hogg-Dube syndrome have an increased risk of developing hamartomas of the pilosebaceous unit, renal tumors of various types, lung cysts, and spontaneous pneumothorax. We present the case of a 54-year-old woman with a long history of whitish papules in the central region of the face and a family history of similar lesions. Biopsy and genetic study revealed a new mutation of the gene involved in Birt-Hogg-Dube syndrome.
Sempau
L
L
Servicio de Dermatología, Complejo Asistencial de León, León, España. leticiasempau@gmail.com
Ruiz
I
I
González-Morán
A
A
Susanna
X
X
Hansen
T V O
TV
D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree