title: Peripheral odontogenic keratocyst associated with nevoid basal cell carcinoma syndrome: a case report.
abstract: OBJECTIVE
  Peripheral odontogenic keratocyst (POKC) is a rare gingival cyst showing histologic features identical to those of keratocystic odontogenic tumor. A rare case of POKC associated with nevoid basal cell carcinoma syndrome (NBCCS) is presented.
  
  
  METHODS
  A 24-year-old woman with NBCCS presented with a pigmented papule, 3 mm in size, involving the lingual gingiva of the right canine area of the mandible. Based on a clinical diagnosis of benign pigmentation, an excisional biopsy was performed, and a histopathologic diagnosis of POKC was rendered.
  
  
  RESULTS
  The lining cells were positive for the proteins GLI2, BCL2, keratin 8, keratin 17, and mTOR. TP53 and Ber-EP4 were also weakly positive. Gene mutational analysis on a buccal swab sample revealed 2 missense mutations in the PTCH1 gene.
  
  
  CONCLUSIONS
  This case is a distinctive example of a genuine soft tissue counterpart of keratocystic odontogenic tumor, in which an aberrant PTCH1-GLI pathway played a considerable role in the pathogenesis.
authors: Section of Oral Pathology, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Kei
authors: K
authors: Sakamoto
authors: Department of Advanced Molecular Diagnosis and Maxillofacial Surgery, Hard Tissue Genome Research Center, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address: keiichi.m.osur@tmd.ac.jp.
authors: Kei-Ichi
authors: K
authors: Morita
authors: Oral and Maxillofacial Surgery, Department of Oral Restitution, Division of Oral Health Sciences, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan; Global Center of Excellence (GCOE) Program, International Research Center for Molecular Science in Tooth and Bone Diseases, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Yasuyuki
authors: Y
authors: Shimada
authors: Oral and Maxillofacial Surgery, Department of Oral Restitution, Division of Oral Health Sciences, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan; Global Center of Excellence (GCOE) Program, International Research Center for Molecular Science in Tooth and Bone Diseases, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Ken
authors: K
authors: Omura
authors: Section of Diagnostic Oral Pathology, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Toshiyuki
authors: T
authors: Izumo
authors: Section of Oral Pathology, Tokyo Medical and Dental University, Tokyo, Japan; Global Center of Excellence (GCOE) Program, International Research Center for Molecular Science in Tooth and Bone Diseases, Tokyo Medical and Dental University, Tokyo, Japan.
authors: Akira
authors: A
authors: Yamaguchi
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000473:pathology* / Q000601:surgery; D001706:Biopsy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008339:Mandibular Neoplasms / Q000473:pathology* / Q000601:surgery; D009807:Odontogenic Cysts / Q000473:pathology* / Q000601:surgery; D009808:Odontogenic Tumors / Q000473:pathology* / Q000601:surgery; D055815:Young Adult