Skip to main content
Log in

Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?

  • Brief Communication
  • Published:
Child's Nervous System Aims and scope Submit manuscript



Cancer-prone genetic disorders are responsible for brain tumors in a considerable proportion of children. Additionally, rare genetic syndromes associated to cancer development may potentially disclose genetic mechanisms related to oncogenesis.


We describe two pediatric patients with encephalocraniocutaneous lipomatosis (ECCL), a very rare genetic syndrome with around 60 reported cases, which developed low-grade astrocytoma at 3 and 12 years of age.


Patients with ECCL seem to be at risk of benign forms of osseous tumors such as ossifying fibromas, odontomas, and osteomas.


The association between brain tumor and ECCL was previously reported only once, in a pediatric case of a mixed neuronal–glial histology. Whether ECCL may be a genetic condition of predisposing brain tumor in children strongly needs to be addressed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2


  1. Andreadis DA, Rizos CB, Belazi M, Peneva M, Antoniades DZ (2004) Encephalocraniocutaneous lipomatosis accompanied by maxillary compound odontoma and juvenile angiofibroma: report of a case. Birth Defects Res A Clin Mol Teratol 70(11):889–891

    Article  PubMed  CAS  Google Scholar 

  2. Blaney SM, Kun LE, Hunter J, Rorke-Adams LB, Lau C, Strother D, Pollack IF (2006) Tumors of the central nervous system. In: Pizzo PA, Poplack DG (eds) Principles and practice of pediatric oncology. Lippincott Williams & Wilkins, Philadelphia, pp 786–864

    Google Scholar 

  3. Brassesco MS, Valera ET, Becker AP, Castro-Gamero AM, de Aboim MA, Santos AC, Scrideli CA, Oliveira RS, Machado HR, Tone LG (2010) Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. J Neurooncol 96(3):437–441

    Article  PubMed  Google Scholar 

  4. Fishman MA, Chang CS, Miller JE (1978) Encephalocraniocutaneous lipomatosis. Pediatrics 61(4):580–582

    PubMed  CAS  Google Scholar 

  5. Gawel J, Schwartz RA, Józwiak S (2003) Encephalocraniocutaneous lipomatosis. J Cutan Med Surg 7(1):61–75

    Article  PubMed  Google Scholar 

  6. Gutmann DH (2008) Using neurofibromatosis-1 to better understand and treat pediatric low-grade glioma. J Child Neurol 23(10):1186–1194

    Article  PubMed  Google Scholar 

  7. Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22(2):144–155

    Article  PubMed  CAS  Google Scholar 

  8. Hamm H (1999) Cutaneous mosaicism of lethal mutations. Am J Med Genet 85(4):342–345

    Article  PubMed  CAS  Google Scholar 

  9. Happle R, Steijlen PM (1993) Encephalocraniocutaneous lipomatosis. A non-hereditary mosaic phenotype. Hautarzt 44(1):19–22

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  Google Scholar 

  11. MacLaren MJ, Kluijt I, Koole FD (1995) Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90(1):87–98

    Article  PubMed  CAS  Google Scholar 

  12. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB (2007) Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 143A(24):2963–2972

    Article  PubMed  Google Scholar 

  13. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE (2007) Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: harboring clues to pathogenesis? Am J Med Genet A 143A(24):2973–2980

    Article  PubMed  Google Scholar 

  14. Moog U (2009) Encephalocraniocutaneous lipomatosis. J Med Genet 46(11):721–729

    Article  PubMed  CAS  Google Scholar 

  15. Napolioni V, Moavero R, Curatolo P (2009) Recent advances in neurobiology of tuberous sclerosis complex. Brain Dev 31(2):104–113

    Article  PubMed  Google Scholar 

  16. Orr LC, Fleitz J, McGavran L, Wyatt-Ashmead J, Handler M, Foreman NK (2002) Cytogenetics in pediatric low-grade astrocytomas. Med Pediatr Oncol 38(3):173–177

    Article  PubMed  Google Scholar 

  17. Phi JH, Park SH, Chae JH, Wang KC, Cho BK, Kim SK (2010) Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. Neurosurgery 67(4):E1165–E1169

    Article  PubMed  Google Scholar 

  18. Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M (2003) Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 28(4):387–390

    Article  PubMed  CAS  Google Scholar 

  19. Zielińska-Kaźmierska B, Grodecka J, Jabłońska-Polakowska L, Arkuszewski P (2005) Mandibular osteoma in the encephalocraniocutaneous lipomatosis. J Craniomaxillofac Surg 33(4):286–289

    Article  PubMed  Google Scholar 

Download references


This research was supported by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP Proc. Nos. 2010/15717-0 and 2010/16652-9).

Author information

Authors and Affiliations


Corresponding author

Correspondence to Elvis Terci Valera.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Valera, E.T., Brassesco, M.S., Scrideli, C.A. et al. Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?. Childs Nerv Syst 28, 19–22 (2012).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: