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Neuroimaging of nevoid basal cell carcinoma syndrome (NBCCS) in children

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Abstract

Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is an autosomal dominant condition with a wide range of manifestations, including multiple basal cell carcinomas, medulloblastoma, odontogenic keratocysts (OKC) and skeletal abnormalities. Children with NBCCS also have a predisposition for secondary cancers after exposure to ionising radiation. In children undergoing imaging for posterior fossa mass and/or maxillofacial cysts, certain additional findings can raise the possibility of NBCCS. Making the diagnosis can significantly impact patient management, especially for children with medulloblastoma.

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References

  1. Scully C, Langdon J, Evans J (2010) Marathon of eponyms: 7 Gorlin-Goltz syndrome (naevoid basal-cell carcinoma syndrome). Oral Dis 16:117–118

    Article  PubMed  CAS  Google Scholar 

  2. Lo Muzio L (2008) Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 3:32

    Article  PubMed  Google Scholar 

  3. Kimonis VE, Goldstein AM, Pastakia B et al (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299–308

    Article  PubMed  CAS  Google Scholar 

  4. Shanley S, Ratcliffe J, Hockey A et al (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282–290

    Article  PubMed  CAS  Google Scholar 

  5. Evans DG, Ladusans EJ, Rimmer S et al (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460–464

    Article  PubMed  CAS  Google Scholar 

  6. Choudry Q, Patel HC, Gurusinghe NT et al (2007) Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst 23:133–136

    Article  PubMed  CAS  Google Scholar 

  7. Sobota A, Pena M, Santi M et al (2007) Undifferentiated sinonasal carcinoma in a patient with nevoid basal cell carcinoma syndrome. Int J Surg Pathol 15:303–306

    Article  PubMed  Google Scholar 

  8. Fukushima Y, Oka H, Utsuki S et al (2004) Nevoid Basal cell carcinoma syndrome with medulloblastoma and meningioma—case report. Neurol Med Chir (Tokyo) 44:665–668

    Article  Google Scholar 

  9. Wallin JL, Tanna N, Misra S et al (2007) Sinonasal carcinoma after irradiation for medulloblastoma in nevoid basal cell carcinoma syndrome. Am J Otolaryngol 28:360–362

    Article  PubMed  Google Scholar 

  10. Iwanaga S, Shimoura H, Shimizu M et al (1998) Gorlin syndrome: unusual manifestations in the sella turcica and the sphenoidal sinus. AJNR 19:956–958

    PubMed  CAS  Google Scholar 

  11. Stavrou T, Dubovsky EC, Reaman GH et al (2000) Intracranial calcifications in childhood medulloblastoma: relation to nevoid basal cell carcinoma syndrome. AJNR 21:790–794

    PubMed  CAS  Google Scholar 

  12. Ahn SG, Lim YS, Kim DK et al (2004) Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg 33:458–462

    Article  PubMed  Google Scholar 

  13. Lo Muzio L, Nocini PF, Savoia A et al (1999) Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet 55:34–40

    Article  PubMed  CAS  Google Scholar 

  14. Mustaciuolo VW, Brahney CP, Aria AA (1989) Recurrent keratocysts in basal cell nevus syndrome: review of the literature and report of a case. J Oral Maxillofac Surg 47:870–873

    Article  PubMed  CAS  Google Scholar 

  15. Lo Muzio L, Nocini P, Bucci P et al (1999) Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc 130:669–674

    PubMed  CAS  Google Scholar 

  16. Neville B, Damm DD, Allen CM et al (2009) Oral and maxillofacial pathology. Saunders, St. Louis

    Google Scholar 

  17. Marx RE, Stern D (2003) Oral and maxillofacial pathology: a rationale for diagnosis and treatment. Quintessence Publishing, Chicago

    Google Scholar 

  18. Madras J, Lapointe H (2008) Keratocystic odontogenic tumour: reclassification of the odontogenic keratocyst from cyst to tumour. Tex Dent J 125:446–454

    PubMed  Google Scholar 

  19. Schmidt BL, Pogrel MA (2001) The use of enucleation and liquid nitrogen cryotherapy in the management of odontogenic keratocysts. J Oral Maxillofac Surg 59:720–727

    Article  PubMed  CAS  Google Scholar 

  20. Hodez C, Griffaton-Taillandier C, Bensimon I (2011) Cone-beam imaging: applications in ENT. Eur Ann Otorhinolaryngol Head Neck Dis 128:65–78

    Article  PubMed  CAS  Google Scholar 

  21. Guerrero ME, Jacobs R, Loubele M et al (2006) State-of-the-art on cone beam CT imaging for preoperative planning of implant placement. Clin Oral Investig 10:1–7

    Article  PubMed  Google Scholar 

  22. Amlashi SF, Riffaud L, Brassier G et al (2003) Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer 98:618–624

    Article  PubMed  Google Scholar 

  23. Garrè ML, Cama A, Bagnasco F et al (2009) Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome—a new clinical perspective. Clin Cancer Res 15:2463–2471

    Article  PubMed  Google Scholar 

  24. Levy RA, Blaivas M, Muraszko K et al (1997) Desmoplastic medulloblastoma: MR findings. AJNR Am J Neuroradiol 18:1364–1366

    PubMed  CAS  Google Scholar 

  25. Becktor JP, Einersen S, Kjaer I (2000) A sella turcica bridge in subjects with severe craniofacial deviations. Eur J Orthod 22:69–74

    Article  PubMed  CAS  Google Scholar 

  26. Kleinerman RA (2009) Radiation-sensitive genetically susceptible pediatric sub-populations. Pediatr Radiol 1:S27–S31

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, Howard University College of Medicine, 2041 Georgia Ave, Washington, DC, 20060, USA

    Kamyar Sartip

  2. Department of Oral and Maxillofacial Surgery, Washington Hospital Center, Washington, DC, USA

    Adam Kaplan & George Obeid

  3. Department of Diagnostic Imaging and Radiology, Children’s National Medical Center, Washington, DC, USA

    Nadja Kadom

Authors
  1. Kamyar Sartip
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  2. Adam Kaplan
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  3. George Obeid
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  4. Nadja Kadom
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Correspondence to Kamyar Sartip.

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Sartip, K., Kaplan, A., Obeid, G. et al. Neuroimaging of nevoid basal cell carcinoma syndrome (NBCCS) in children. Pediatr Radiol 43, 620–627 (2013). https://doi.org/10.1007/s00247-012-2516-x

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  • DOI: https://doi.org/10.1007/s00247-012-2516-x

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