Management of Proteus Syndrome with Craniofacial Hemihyperostosis: Case Report

악골의 편측 비대를 보이는 프로테우스 증후군의 치료: 증례보고

  • Yun, Yeong-Eun (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital) ;
  • Seol, Ka-Young (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital) ;
  • Oh, Min-Seok (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital) ;
  • Choi, Jung-Goo (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital) ;
  • Kim, Sang-Jung (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital) ;
  • Lee, Dong-Keun (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital) ;
  • Kang, Ji-Yeon (Department of Oral and Maxillofacial Surgery, Sun Dental Hospital)
  • 윤영은 (선치과병원 구강악안면외과) ;
  • 설가영 (선치과병원 구강악안면외과) ;
  • 오민석 (선치과병원 구강악안면외과) ;
  • 최정구 (선치과병원 구강악안면외과) ;
  • 김상중 (선치과병원 구강악안면외과) ;
  • 이동근 (선치과병원 구강악안면외과) ;
  • 강지연 (선치과병원 구강악안면외과)
  • Received : 2011.09.06
  • Accepted : 2011.09.28
  • Published : 2011.11.30

Abstract

Proteus syndrome is a congenital hamartomatous malformation that is characterized by a wide range of deformities, including craniofacial deformities. Proteus syndrome features partial gigantism and asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, varicosities, verrucous epidermal nevi, macrocephaly, cranial hyperostosis, and long bone overgrowth. We diagnosed Proteus syndrome in a male patient who visited our hospital with a chief complaint of limited mouth opening and report the case because we obtained a good healing outcome after treating the condition with a corrective osteotomy.

Keywords

References

  1. Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser 1979;15:291-6.
  2. Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 1983;140:5-12. https://doi.org/10.1007/BF00661895
  3. Min CK, Noh ML, Choi KS, Park JY, Lee HR, Noh JM. A case report of Proteus syndrome. Human Scienece 1988;12:733-9.
  4. Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet 2005;137C:38-52. https://doi.org/10.1002/ajmg.c.30063
  5. Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A 2004;130A:111-22. https://doi.org/10.1002/ajmg.a.30327
  6. Happle R. Cutaneous manifestation of lethal genes. Hum Genet 1986;72:280. https://doi.org/10.1007/BF00291899
  7. Cohen MM Jr. Proteus syndrome: clinical evidence for somatic mosaicism and selective review. Am J Med Genet 1993;47:645-52. https://doi.org/10.1002/ajmg.1320470514
  8. Cohen MM Jr, Howell RE. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg 1999;28:366-71. https://doi.org/10.1016/S0901-5027(99)80085-X
  9. Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011;365:611-9. https://doi.org/10.1056/NEJMoa1104017
  10. Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 1999;84:389-95. https://doi.org/10.1002/(SICI)1096-8628(19990611)84:5<389::AID-AJMG1>3.0.CO;2-O
  11. Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. Sudden death caused by pulmonary thromboembolism in Proteus syndrome. Clin Genet 2000;58:386-9.
  12. Gordon PL, Wilroy RS, Lasater OE, Cohen MM Jr. Neoplasms in Proteus syndrome. Am J Med Genet 1995;57:74-8. https://doi.org/10.1002/ajmg.1320570117
  13. Pinto PX, Beale V, Paterson AW. Proteus syndrome. A case report of a hamartomatous syndrome with severe mandibular hemihypertrophy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998;85:82-5. https://doi.org/10.1016/S1079-2104(98)90403-6
  14. Becktor KB, Becktor JP, Karnes PS, Keller EE. Craniofacial and dental manifestations of Proteus syndrome: a case report. Cleft Palate Craniofac J 2002;39:233-45. https://doi.org/10.1597/1545-1569(2002)039<0233:CADMOP>2.0.CO;2
  15. Gilbert-Barness E, Cohen MM Jr, Opitz JM. Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome. Am J Med Genet 2000;93:234-40. https://doi.org/10.1002/1096-8628(20000731)93:3<234::AID-AJMG15>3.0.CO;2-9
  16. Sakamoto Y, Nakajima H, Kishi K, Shimizu R, Nakajima T. Management of craniofacial hyperostosis in Proteus syndrome. J Craniofac Surg 2010;21:414-8. https://doi.org/10.1097/SCS.0b013e3181cfa7f0
  17. Peters KF, Biesecker LG. An opportunity for genetic counseling intervention: Depression in parents of individuals with Proteus syndrome. J Genet Couns 2000;9:161-70. https://doi.org/10.1023/A:1009416126631