title: Ossifying fibroma in Buschke-Ollendorff syndrome.
abstract: Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-β (TGF-β) signaling and resultant changes in fibroblast function. TGF-β alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome. Herein, we report a novel association between ossifying fibroma and Buschke-Ollendorff syndrome and discuss how these conditions are likely to be mechanistically linked.
authors.affiliation: Department of Dermatology, University of California, San Francisco, CA, USA.
authors.forename: Annelise L
authors.initials: AL
authors.lastname: Dawson
authors.forename: Joshua M
authors.initials: JM
authors.lastname: Schulman
authors.forename: Richard C
authors.initials: RC
authors.lastname: Jordan
authors.forename: Jeffrey P
authors.initials: JP
authors.lastname: North
mesh_terms: D001859:Bone Neoplasms / Q000150:complications / Q000473:pathology*; D005260:Female; D018214:Fibroma, Ossifying / Q000150:complications / Q000473:pathology*; D006801:Humans; D010023:Osteopoikilosis / Q000150:complications / Q000473:pathology*; D012873:Skin Diseases, Genetic / Q000150:complications / Q000473:pathology*; D055815:Young Adult
keywords: Buschke-Ollendorff syndrome; TGF-β; connective tissue nevus; ossifying fibroma; osteopoikilosis