title: Gorlin-Goltz Syndrome: An Uncommon Cause of Facial Pain and Asymmetry.
abstract: Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Early diagnosis and attentive management by a multidisciplinary team are paramount to improving outcomes in patients with this disorder, and this report serves as a paradigm for maintaining a high clinical suspicion, which must be accompanied by an appropriate radiologic workup.
authors.affiliation: Michael E. DeBakey Department of Surgery, Division of Plastic Surgery, Baylor College of Medicine, Houston, TX.
authors.forename: Brent B
authors.initials: BB
authors.lastname: Pickrell
authors.forename: Harrison P
authors.initials: HP
authors.lastname: Nguyen
authors.forename: Edward P
authors.initials: EP
authors.lastname: Buchanan
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000175:diagnosis; D002648:Child; D005146:Facial Asymmetry / Q000209:etiology*; D005157:Facial Pain / Q000209:etiology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008336:Mandibular Diseases / Q000150:complications / Q000000981:diagnostic imaging; D008443:Maxillary Sinus / Q000000981:diagnostic imaging; D009807:Odontogenic Cysts / Q000150:complications / Q000000981:diagnostic imaging; D009915:Orbit / Q000000981:diagnostic imaging; D011859:Radiography