Article
[New mutation in the Birt Hogg Dube gene].
Actas dermo-sifiliograficas - 1 Sept 2010
Sempau L, Ruiz I, González-Morán A, Susanna X, Hansen T V O
Abstract excerpt
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...
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