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  • Title: [Renal cell carcinoma in the Birt-Hogg-Dubé syndrome: report of a case].
    Author: Takahashi A, Hayashi T, Yoshida O, Uede K, Furukawa F, Shuin T.
    Journal: Hinyokika Kiyo; 2001 Oct; 47(10):719-21. PubMed ID: 11758353.
    Abstract:
    Birt-Hogg-Dubé (BHD) syndrome is a rare dermatological condition appearing with an autosomal dominant mode of inheritance. It was first reported in 1977 by Birt et al. and 28 cases have been reported since then. BHD syndrome is characterized by asymptomatic dome-shaped, skin-colored papules on the face and upper trunk. Recently, various neoplasms have been reported to associate with BHD syndrome, including three familial and one sporadic cases of renal tumors. We report another sporadic case with renal tumor. A 53-year-old woman complained of gross hematuria and visited our institute on November 1996. She visited the Department of Dermatology, Wakayama Medical College because of skin lesions on the face and upper trunk at her age of 44. These skin lesions were present since her mid twenties. Her daughter also had similar skin lesions and visited the same Department. There was no family history of renal tumor. The patient was diagnosed to have a right renal tumor, and radical nephrectomy was performed. Pathological diagnosis was renal cell carcinoma, papillary type. She underwent interferon injection therapy postoperatively, but died because of lung metastases on April 1997. This is the first reported case of renal tumor occurring in BHD syndrome in Japan.
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