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- Title
Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p. W260X.
- Authors
Sattler, Elke C.; Lang, Martin U.; van Steensel, Maurice A. M.; van Geel, Michel; Schneider, Josef J.; Flaig, Michael J.; Ruzicka, Thomas; Burgdorf, Walter; Steinlein, Ortrud K.
- Abstract
The article presents a case study on a 48-year-old man with pruritic papules on the forehead, nose, behind the ears and on the neck for 40 years. Computer tomography showed lipoma of the right kidney and multiple clung cysts. He was diagnosed with Birt-Hogg-Dubé Syndrome (BHD) confirmed by genetic testing. The presence of spontaneous pneumothorax was not observed.
- Subjects
TOMOGRAPHY; LIPOSARCOMA; RENAL cancer; CYSTS (Pathology); LUNG diseases; PNEUMOTHORAX
- Publication
Acta Dermato-Venereologica, 2012, Vol 92, Issue 2, p187
- ISSN
0001-5555
- Publication type
Case Study
- DOI
10.2340/00015555-1236