title: Mutiple keratocystic odontogenic tumors (KCOT) in a patient with Gorlin syndrome: a case report with late presentation and absence of skin manifestations.
abstract: BACKGROUND
  Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTCH gene.
  
  
  METHODS
  A 36 year old Asian patient presented with jaw swelling and pain. Radiographic examination revealed six cysts in maxilla and mandible which were excised and histologically were compatable with keratocystic odontogenic tumors. CT scan also revealed falx cerebral calcification which led to the diagnosis of Gorlin syndrome confirmed on genetic testing. There was no evidence of basal cell carcinoma and other manifestations of Gorlin syndrome were absent.
  
  
  CONCLUSIONS
  Multiple KCOT are hallmark of Gorlin syndrome and should always leads to its suspicion even in the absence of other manifestations and late presentation. Moreover, keratocystic odontogenic tumors have a particularly higher risk of recurrence and patients with Gorlin syndrome are prone to develop additional keratocystic odontogenic tumors from basal cells of oral epithelium. Therefore we suggest a stepwise approach to manage such patients which include a preoperative biopsy to establish a definitive diagnosis and complete removal of all keratocystic odontogenic tumors to prevent recurrence followed by close clinical follow up and early removal of any newly developed or recurrent cyst. Additionally thorough clinical examination is necessary to rule out the possibility of Gorlin syndrome in any patient with keratocystic odontogenic tumors as there are only subtle differences in histology of those cysts with a syndromic association and clinical features of Gorlin syndrome are markedly variable. Hence late occurrence of keratocystic odontogenic tumors and absence of skin manifestations like basal cell carcinoma should not preclude a diagnosis of Gorlin syndrome.
authors.affiliation: Department of Histopathology, Liaquat National Hospital and Medical College, Karachi, Pakistan.
authors.forename: Atif Ali
authors.initials: AA
authors.lastname: Hashmi
authors.affiliation: Department of Maxillofacial Surgery, Liaquat National Hospital and Medical College, Karachi, Pakistan.
authors.forename: Muhammad Muzzammil
authors.initials: MM
authors.lastname: Edhi
authors.affiliation: Liaquat National Hospital and Medical College, Karachi, Pakistan.
authors.forename: Naveen
authors.initials: N
authors.lastname: Faridi
authors.affiliation: Department of Maxillofacial Surgery, Liaquat National Hospital and Medical College, Karachi, Pakistan.
authors.forename: Mervyn
authors.initials: M
authors.lastname: Hosein
authors.affiliation: Dhaka Medical College, Dhaka, Bangladesh. mehmoodkhan955@yahoo.com.
authors.forename: Mehmood
authors.initials: M
authors.lastname: Khan
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D004487:Edema / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007150:Immunohistochemistry; D007568:Jaw / Q000473:pathology; D008297:Male; D009807:Odontogenic Cysts / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D056948:Orthognathic Surgical Procedures; D010146:Pain / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery
keywords: Falx cerebral calcifications; Gorlin syndrome; Keratocystic odontogenic tumor