DOI QR코드

DOI QR Code

Basal cell nevus syndrome with excessive basal cell carcinomas

  • Kim, Choon Soo (Department of Plastic and Reconstructive Surgery, Wonkwang University Hospital) ;
  • Na, Young Cheon (Department of Plastic and Reconstructive Surgery, Wonkwang University Hospital)
  • Received : 2021.04.04
  • Accepted : 2021.04.19
  • Published : 2021.04.20

Abstract

Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. His clinical features of jaw cysts, bifid ribs, and calcification of the falx cerebri were fitting within the criteria for the diagnosis of BCNS. We excised all suspected macules and sent permanent biopsy. Most of the histological examinations of the biopsy samples taken during surgical excision of the face masses showed basal cell carcinomas. Ten months after the surgery, the patient has remained free from symptoms and is undergoing follow-up observation.

Keywords

References

  1. Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308. https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
  2. Larsen AK, Mikkelsen DB, Hertz JM, Bygum A. Manifestations of Gorlin-Goltz syndrome. Dan Med J 2014;61:A4829.
  3. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32. https://doi.org/10.1186/1750-1172-3-32
  4. Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, et al. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Fam Cancer 2013;12:611-4. https://doi.org/10.1007/s10689-013-9623-1
  5. Jarisch W. Zur lehre von den hautgeschwulsten. Archiv Dermatol Syph 1894;28:163-222. https://doi.org/10.1001/archderm.1933.01460020017004
  6. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N Engl J Med 1960;262:908-12. https://doi.org/10.1056/NEJM196005052621803
  7. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet 1992;339:581-2. https://doi.org/10.1016/0140-6736(92)90868-4
  8. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med 1999;134:551-2. https://doi.org/10.1016/S0022-2143(99)90092-6
  9. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993;30:460-4. https://doi.org/10.1136/jmg.30.6.460
  10. Ahn SG, Lim YS, Kim DK, Kim SG, Lee SH, Yoon JH. Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg 2004;33:458-62. https://doi.org/10.1016/j.ijom.2003.11.001
  11. Bree AF, Shah MR; BCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A 2011;155A:2091-7. https://doi.org/10.1002/ajmg.a.34128
  12. Han SH, Kim SH, Kim CK, Jo DI. Multiple nonmelanocytic skin cancers in multiple regions. Arch Craniofac Surg 2020;21:188-92. https://doi.org/10.7181/acfs.2020.00073
  13. Mitropoulos P, Norman R. Nevoid basal cell carcinoma syndrome (Gorlin syndrome): updated review of minimally invasive treatments. Cutis 2008;81:53-60.
  14. Lee IS, Hong IP, Lee HK. Basal cell carcinoma and squamous cell carcinoma in a single tumor in the anterior auricular area. Arch Craniofac Surg 2020;21:257-60. https://doi.org/10.7181/acfs.2020.00262