title: Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.
abstract: OBJECTIVE
  The differential diagnosis of extensive open comedones includes inherited genetic syndromes and several acquired conditions. Birt-Hogg-Dube syndrome (BHD) is not typically included in the differential diagnosis of syndromes with comedonal lesions. Given the potentially life-threatening systemic complications associated with BHD, early recognition and diagnosis of the condition is important.
  
  
  METHODS
  We describe comedonal or cystic fibrofolliculomas in 4 patients with BHD. Cutaneous lesions were identified on the face, neck, chest, and abdomen.
  
  
  CONCLUSIONS
  Comedonal or cystic fibrofolliculomas are a variant of fibrofolliculomas that have not previously been well characterized in patients with BHD and represent a novel diagnostic clue to its early detection and diagnosis. Expanding the phenotypic features of BHD facilitates earlier diagnosis of the syndrome, which allows for early surveillance of renal cancer in affected patients as well as disease screening in their relatives.
authors.affiliation: Department of Dermatology, Georgetown University Hospital/Washington Hospital Center, Washington, DC.
authors.forename: Ohara
authors.initials: O
authors.lastname: Aivaz
authors.affiliation: Suzanne L. Berkman, MD, Inc, Beverly Hills, California.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Berkman
authors.affiliation: Urologic Surgery and the Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Lindsay
authors.initials: L
authors.lastname: Middelton
authors.affiliation: Urologic Surgery and the Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
authors.affiliation: Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.affiliation: Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland5Section Editor, "The Cutting Edge," JAMA Dermatology.
authors.forename: Edward W
authors.initials: EW
authors.lastname: Cowen
mesh_terms: D000328:Adult; D000368:Aged; D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005153:Facial Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D005350:Fibroma / Q000235:genetics / Q000473:pathology*; D018859:Hair Follicle; D006801:Humans; D008297:Male; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology*; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins