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Basal Cell Nevus Syndrome
Luke L. Linscott, MD; Gilbert Vézina, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          TERMINOLOGY

          • Abbreviations

            • Basal cell nevus syndrome (BCNS)
          • Synonyms

            • Nevoid basal cell carcinoma syndrome (NBCCS), Gorlin syndrome, Gorlin-Goltz syndrome
          • Definitions

            • Hereditary tumor syndrome characterized by multiple basal cell epitheliomas (BCEs)/basal cell carcinomas (BCCs), keratocystic odontogenic tumors (KOTs), palmoplantar pits, dural Ca⁺⁺, ± medulloblastoma

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Nuclear Medicine Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Akbari M et al: Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones. Pathophysiology. 25(2):77-82, 2018
                                            2. Foulkes WD et al: Cancer surveillance in Gorlin syndrome and rhabdoid tumor predisposition syndrome. Clin Cancer Res. 23(12):e62-7, 2017
                                            3. Bresler SC et al: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol. 10(2):119-24, 2016
                                            4. Khaliq MI et al: Keratocystic odontogenic tumors related to Gorlin-Goltz syndrome: a clinicopathological study. J Oral Biol Craniofac Res. 6(2):93-100, 2016
                                            5. Migden M: Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. Lancet Oncol. 17(12):1631-2, 2016
                                            6. Tang JY et al: Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Oncol. 17(12):1720-31, 2016
                                            7. Wehner MR et al: Timing of subsequent new tumors in patients who present with basal cell carcinoma or cutaneous squamous cell carcinoma. JAMA Dermatol. 151(4):382-8, 2015
                                            8. Manjima S et al: Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome. Contemp Clin Dent. 6(Suppl 1):S102-5, 2015
                                            9. Athar M et al: Sonic hedgehog signaling in basal cell nevus syndrome. Cancer Res. 74(18):4967-75, 2014
                                            10. Smith MJ et al: Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 32(36):4155-61, 2014
                                            11. Sartip K et al: Neuroimaging of nevoid basal cell carcinoma syndrome (NBCCS) in children. Pediatr Radiol. 43(5):620-7, 2013
                                            12. Romano M et al: Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders. Eur J Ophthalmol. 21(4):516-9, 2011
                                            13. Garrè ML et al: Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. Clin Cancer Res. 15(7):2463-71, 2009
                                            14. Harmsen MB et al: Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 17(10):1207-15, 2009
                                            15. Pastorino L et al: Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 149A(7):1539-43, 2009
                                            16. Kimonis VE et al: Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. 6(6):495-502, 2004
                                            17. Palacios E et al: Odontogenic keratocysts in nevoid basal cell carcinoma (Gorlin's) syndrome: CT and MRI evaluation. Ear Nose Throat J. 83(1):40-2, 2004
                                            18. Ozturk A et al: Neuroradiological findings in a mother and daughter with Gorlin syndrome. Clin Dysmorphol. 12(2):145-6, 2003
                                            19. Stavrou T et al: Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome. AJNR Am J Neuroradiol. 21(4):790-4, 2000
                                            20. Wicking C et al: De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet. 73(3):304-7, 1997
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Pathology

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Basal cell nevus syndrome (BCNS)
                                                    • Synonyms

                                                      • Nevoid basal cell carcinoma syndrome (NBCCS), Gorlin syndrome, Gorlin-Goltz syndrome
                                                    • Definitions

                                                      • Hereditary tumor syndrome characterized by multiple basal cell epitheliomas (BCEs)/basal cell carcinomas (BCCs), keratocystic odontogenic tumors (KOTs), palmoplantar pits, dural Ca⁺⁺, ± medulloblastoma

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Nuclear Medicine Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Akbari M et al: Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones. Pathophysiology. 25(2):77-82, 2018
                                                                                      2. Foulkes WD et al: Cancer surveillance in Gorlin syndrome and rhabdoid tumor predisposition syndrome. Clin Cancer Res. 23(12):e62-7, 2017
                                                                                      3. Bresler SC et al: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol. 10(2):119-24, 2016
                                                                                      4. Khaliq MI et al: Keratocystic odontogenic tumors related to Gorlin-Goltz syndrome: a clinicopathological study. J Oral Biol Craniofac Res. 6(2):93-100, 2016
                                                                                      5. Migden M: Hedgehog pathway inhibitor therapy in basal-cell nevus syndrome. Lancet Oncol. 17(12):1631-2, 2016
                                                                                      6. Tang JY et al: Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet Oncol. 17(12):1720-31, 2016
                                                                                      7. Wehner MR et al: Timing of subsequent new tumors in patients who present with basal cell carcinoma or cutaneous squamous cell carcinoma. JAMA Dermatol. 151(4):382-8, 2015
                                                                                      8. Manjima S et al: Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome. Contemp Clin Dent. 6(Suppl 1):S102-5, 2015
                                                                                      9. Athar M et al: Sonic hedgehog signaling in basal cell nevus syndrome. Cancer Res. 74(18):4967-75, 2014
                                                                                      10. Smith MJ et al: Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 32(36):4155-61, 2014
                                                                                      11. Sartip K et al: Neuroimaging of nevoid basal cell carcinoma syndrome (NBCCS) in children. Pediatr Radiol. 43(5):620-7, 2013
                                                                                      12. Romano M et al: Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders. Eur J Ophthalmol. 21(4):516-9, 2011
                                                                                      13. Garrè ML et al: Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective. Clin Cancer Res. 15(7):2463-71, 2009
                                                                                      14. Harmsen MB et al: Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur J Hum Genet. 17(10):1207-15, 2009
                                                                                      15. Pastorino L et al: Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 149A(7):1539-43, 2009
                                                                                      16. Kimonis VE et al: Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. 6(6):495-502, 2004
                                                                                      17. Palacios E et al: Odontogenic keratocysts in nevoid basal cell carcinoma (Gorlin's) syndrome: CT and MRI evaluation. Ear Nose Throat J. 83(1):40-2, 2004
                                                                                      18. Ozturk A et al: Neuroradiological findings in a mother and daughter with Gorlin syndrome. Clin Dysmorphol. 12(2):145-6, 2003
                                                                                      19. Stavrou T et al: Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome. AJNR Am J Neuroradiol. 21(4):790-4, 2000
                                                                                      20. Wicking C et al: De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet. 73(3):304-7, 1997