[Birt-Hogg-Dubé syndrome].
Birt-Hogg-Dubé (BHD) is a rare autosomal dominant genodermatosis, characterized by cutaneous hamartomas, pulmonary cysts, spontaneous pneumothorax and kidney tumours. BHD is caused by mutation in the gene which codes for folliculin (FLCN). FLCN is part of the mTOR-AMPK signal transduction pathway. Genetic testing of patients is now possible. Furthermore, understanding of the biology and mechanisms behind BHD-associated disease provides an opportunity for development of new treatment options.
Rehfeld
Anders
A
Rigshospitalet, Klinisk Biokemisk Afdeling KB 3011, og University Medical Centre Maastricht, Department of Dermatology, Holland.
van Steensel
Maurice A M
MA
Friis-Hansen
Lennart
L
D003560:Cysts / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006222:Hamartoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D011030:Pneumothorax / Q000175:diagnosis / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins