[Birt-Hogg-Dubé syndrome and multiple recurrent tumors].
Birt-Hogg-Dubé (SBHD) syndrome is a rare autosomal dominant genodermatosis, predisposing to the occurrence of tumors associated with skin manifestations. We report a male patient who presented with a history of recurrent pneumothorax and was treated by nephrectomy for a left kidney carcinoma at 20 years old. Skin examination disclosed numerous fibrofolliculomas of the scalp. During follow-up, surgical resection of parotid oncocytomas and of a parathyroid adenoma were performed. SBHD was confirmed by molecular biology. In the presence of fibrofolliculomas and kidney tumors and recurrent spontaneous pneumothorax, a diagnosis of SHBD syndrome should be discussed, and tests need to be performed on the whole family.
Vinit
J
J
Service de médecine interne et maladies systémiques, hôpital Général, CHU de Dijon, 3 rue du Faubourg-Raines, Dijon cedex, France. julien.vinit@chu-dijon.fr
Friedel
J
J
Bielefeld
P
P
Muller
G
G
Goudet
P
P
Besancenot
J-F
JF
D000368:Aged; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis; D006801:Humans; D008297:Male; D009364:Neoplasm Recurrence, Local / Q000175:diagnosis; D009378:Neoplasms, Multiple Primary / Q000175:diagnosis; D012878:Skin Neoplasms / Q000175:diagnosis