Advertisement

Congenital Infiltrating Lipomatosis of the Face

Living reference work entry

Abstract

In 1983, Slavin et al. described a new entity termed “congenital infiltrating lipomatosis of the face” (CIL-F). It differs from the other lipomatosis in its exclusive facial location, its effects on adjacent structures, its congenital nature, and its precise histologic characteristics (Bouletreau et al. 2000).

Keywords

Somatic Mosaicism Myxoid Liposarcomas PIK3CA Gene Proteus Syndrome Epidermal Nevus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Babu, N. S., Raviprakash, D., & Kumar, R. (2011). Nasopalpebral lipoma coloboma syndrome. Indian Journal of Ophthalmology, 59, 379–380.PubMedCrossRefGoogle Scholar
  2. Bouletreau, P., Breton, P., & Friedel, M. (2000). Congenital infiltrating lipomatosis of the face: Case report. Journal of Oral and Maxillofacial Surgery, 58, 807–810.PubMedCrossRefGoogle Scholar
  3. Bruyeer, E., Lemmerling, M., Poorten, V. V., et al. (2012). Paediatric lipoblastoma in the head and neck: Three cases and review of literature. Cancer Imaging, 12, 484–487.PubMedPubMedCentralCrossRefGoogle Scholar
  4. Chen, C-M., Lo, L-J, & Wong, H-F. (2002). congenital infiltrating lipomatosis of the face. Case report and literature review. Chang Gung Medical Journal, 25, 194–200.PubMedGoogle Scholar
  5. Coffin, C. M., & Alaggio, R. (2012). Adipose and myxoid tumors of childhood and adolescence. Pediatric Developmental Pathology, 15, 239–254.PubMedCrossRefGoogle Scholar
  6. Donati, L., Candiani, P., Grappolini, S., et al. (1990). Congenital infiltrating lipomatosis of the face related to CMV infection. British Journal of Plastic Surgery, 43, 124–126.PubMedCrossRefGoogle Scholar
  7. Ha, T. V., Kleinman, P. K., Fraire, A., et al. (1994). MR imaging of benign fatty tumors in children: Report of four cases and review of literature. Skeletal Radiology, 23, 361–367.PubMedCrossRefGoogle Scholar
  8. Hicks, J., Dilley, A., Patel, D., et al. (2001). Lipoblastoma and lipoblastomatosis in infancy and childhood: Histopathologic, ultrastructural, and cytogenetic features. Ultrastructural Pathology, 25, 321–333.PubMedCrossRefGoogle Scholar
  9. Kåbjörn Gustafsson, C., Stahlberg, A., Engtrom, K., et al. (2014). Cell senescence in myxoid/round cell liposarcoma. Sarcoma, 2014, 208786.PubMedPubMedCentralGoogle Scholar
  10. Keppler-Noreuil, K. M., Sapp, J. C., Lindhurst, M. J., et al. (2014). Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. American Journal of Medical Genetics, 164, 1713–1733.PubMedCentralCrossRefGoogle Scholar
  11. Keramidas, T., Lagogiannis, G., Vlachou, V., et al. (2012). Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature. Journal of Cranio-Maxillo-Facial Surgery, 40, 750e–756e.CrossRefGoogle Scholar
  12. Kim, J.-E., Gottschall, J. A., Bachman, R. P., et al. (2010). Facial infiltrating lipomatosis: Physical, radiological and histopathological findings. Archives of Otolaryngology – Head & Neck Surgery, 136, 301–303.CrossRefGoogle Scholar
  13. Kocak, O., Yarar, C., & Carman, K. B. (2015). Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases. Childs Nervous System. [Epub ahead of print].Google Scholar
  14. Langhans, L., Frevert, S. C., & Andersen, M. (2015). Lipomatous tumours of the face in infants: Diagnosis and treatment. Journal of Plastic Surgery and Hand Surgery, 49, 260–264.CrossRefGoogle Scholar
  15. Maclellan, R. A., Luks, V. L., Vivero, M. P., et al. (2014). PIK3CA Activating mutations in facial infiltrating lipomatosis. Plastic Reconstructive Surgery, 133, 12e–19e.PubMedCrossRefGoogle Scholar
  16. MacMillan, A. R. G., Oliver, A. J., Reade, P. C., et al. (1990). Regional macrodontia and regional bony enlargement associated with congenital infiltrating lipomatosis of the face presenting as unilateral facial hyperplasia. International Journal of Oral Maxillofacial Surgery, 19, 283–286.PubMedCrossRefGoogle Scholar
  17. Mahadevappa, A., Raghavan, V. H., Ravishankar, S., et al. (2012). Congenital infiltrating lipomatosis of the face: A case report. Case Reports in Pediatrics, 2012, 134646.PubMedPubMedCentralCrossRefGoogle Scholar
  18. Malik, A., Jagmohan, P., Thukral, B. B., et al. (2004). Congenital infiltrating lipomatosis of the face and neck. Acta Radiologica, 45, 556–560.PubMedCrossRefGoogle Scholar
  19. Miller, G. G., Yanchar, N. L., Magee, J. F., et al. (1997). Tumor karyotype differentiates lipoblastoma from liposarcoma. Journal of Pediatric Surgery, 32, 1771–1772.PubMedCrossRefGoogle Scholar
  20. Mirzaa, G., Conway, R., Graham, J. M. Jr., et al. (2013). PIK3CA-related segmental overgrowth. GeneReviews. Available at http://www.ncbi.nlm.nih.gov/books/NBK153722/
  21. Padwa, B. L., & Mulliken, J. B. (2001). Facial infiltrating lipomatosis. Plastic Reconstructive Surgery, 108, 1544–1554.PubMedCrossRefGoogle Scholar
  22. Patel, R. V., & Gondalino, J. S. (1991). Congenital infiltrating lipomatosis of the face. British Journal of Plastic Surgery, 44, 1577–158.Google Scholar
  23. Rizzo, R., Pavone, L., Micali, G., et al. (1993). Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. American Journal of Medical Genetics, 47, 653–655.PubMedCrossRefGoogle Scholar
  24. Sahai, S., Rajan, S., Singh, N., et al. (2013). Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis. Case report and review of the literature. Dentomaxillofacial Radiology, 42, 16128745.PubMedPubMedCentralCrossRefGoogle Scholar
  25. Sauk, J. J., Jr. (1971). Liposarcoma of the head and neck. Journal of Oral Surgery, 29, 38–40.PubMedGoogle Scholar
  26. Shear, M. (1967). Lipoblastomatosis of the cheek. British Journal of Oral Surgery, 5, 173–179.PubMedCrossRefGoogle Scholar
  27. Shenoy, A. R., Nair, K. K., Lingappa, A., et al. (2015). Congenital infiltrating lipomatosis of face: Case report and review of literature. Journal of Indian Society of Pedodontics and Preventive Dentistry, 33, 156–160.PubMedCrossRefGoogle Scholar
  28. Singh, K., Sen, P., Musgrove, B. T., et al. (2011). Facial infiltrating lipomatosis: A case report and review of literature. International Journal of Surgery Case Reports, 2, 201–205.PubMedPubMedCentralCrossRefGoogle Scholar
  29. Slavin, S. A., Baker, D. C., McCarthy, J. G., et al. (1983). Congenital infiltrating lipomatosis of the face: Clinicopathologic evaluation and treatment. Plastic & Reconstructive Surgery, 72, 158–164.CrossRefGoogle Scholar
  30. Sun, L., Sun, Z., Zhu, J., et al. (2013). Tooth abnormalities in congenital infiltrating lipomatosis of the face. Oral and Maxillofacial radiology, 115, e52–e62.Google Scholar
  31. Tadisina, K. K., Mlynek, K. S., Hwang, L. K., et al. (2015). Syndromic lipomatosis of the head and neck: A review of the literature. Aesthetic Plastic Surgery, 39, 440–448.PubMedCrossRefGoogle Scholar
  32. Tracy, J. C., Klement, G. L., & Scott, A. R. (2013). Interdisciplinary management of congenital infiltrating lipomatosis. International Journal of Pediatric Otorhinolaryngology, 77, 2071–2074.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

Personalised recommendations