title: Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex.
abstract: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant condition caused by mutations in the gene which codes for folliculin (FLCN). It is characterised clinically by fibrofolliculomas, trichodiscomas, pulmonary cysts, spontaneous pneumothoraces and renal cancers. This case illustrates a patient with BHDS and a renal angiomyolipoma. Angiomyolipomas are not described as a feature of BHDS, but rather they can occur sporadically or in tuberous sclerosis complex (TSC). Recent studies suggest that clinical similarities between BHDS and TSC may be explained by FLCN and TSC proteins functioning on a common pathway, mammalian target of rapamycin. This case adds to the literature of cases with clinical similarities.
authors.affiliation: St John's Institute of Dermatology, London, UK. margueritebyrne@hotmail.com
authors.forename: Marguerite
authors.initials: M
authors.lastname: Byrne
authors.forename: Raj
authors.initials: R
authors.lastname: Mallipeddi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Pichert
authors.forename: Sean
authors.initials: S
authors.lastname: Whittaker
mesh_terms: D000328:Adult; D018207:Angiomyolipoma / Q000150:complications* / Q000000981:diagnostic imaging; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005148:Facial Dermatoses / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011859:Radiography; D014402:Tuberous Sclerosis / Q000150:complications*; D025521:Tumor Suppressor Proteins / Q000235:genetics; D014463:Ultrasonography
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins