Archives of Plastic Surgery

Korean Society of Plastic and Reconstructive Surgeons (대한성형외과학회)
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Gorlin-Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing

  • Hyo Seong Kim (Department of Plastic and Reconstructive Surgery, Myong-ji Hospital) ;
  • Seung Heo (Department of Plastic and Reconstructive Surgery, Myong-ji Hospital) ;
  • Kyung Sik Kim (Division of Pediatric Plastic Surgery, Seoul National University Children's Hospital) ;
  • Joon Choi (Department of Plastic and Reconstructive Surgery, Myong-ji Hospital) ;
  • Jeong Yeol Yang (Department of Plastic and Reconstructive Surgery, Myong-ji Hospital)
  • Received : 2022.05.14
  • Accepted : 2023.05.10
  • Published : 2023.07.15
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Abstract

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin-Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.

Keywords

Acknowledgement

We would like to thank the patient for participation and cooperation and Editage (www.editage.co.kr) for English language editing.

References

  1. Bresler SC, Padwa BL, Granter SR. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Head Neck Pathol 2016;10(02):119-124 https://doi.org/10.1007/s12105-016-0706-9
  2. Ortega Garcia de Amezaga A, Garcia Arregui O, Zepeda Nuno S, et al. Gorlin-Goltz syndrome: clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008;13:338-343
  3. Sereflican B, Tuman B, Sereflican M, Halicioglu S, Ozyalvacli G, Bayrak S. Gorlin-Goltz syndrome. Turk Pediatri Ars 2017;52(03):173-177 https://doi.org/10.5152/TurkPediatriArs.2017.2992
  4. Kumar NN, Padmashree S, Jyotsna TR, Shastry SP. Gorlin-Goltz syndrome: a rare case report. Contemp Clin Dent 2018;9(03):478-483 https://doi.org/10.4103/ccd.ccd_96_18
  5. Onodera S, Nakamura Y, Azuma T. Gorlin syndrome: Recent advances in genetic testing and molecular and cellular biological research. Int J Mol Sci 2020;21(20):7559. Doi: 10.3390/ijms21207559
  6. Bree AF, Shah MRBCNS Colloquium Group. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A 2011;155A(09):2091-2097 https://doi.org/10.1002/ajmg.a.34128
  7. Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996;272(5268):1668-1671 https://doi.org/10.1126/science.272.5268.1668
  8. Atwood SX, Chang ALS, Oro AE. Hedgehog pathway inhibition and the race against tumor evolution. J Cell Biol 2012;199(02):193-197 https://doi.org/10.1083/jcb.201207140
  9. Varjosalo M, Taipale J. Hedgehog: functions and mechanisms. Genes Dev 2008;22(18):2454-2472 https://doi.org/10.1101/gad.1693608
  10. Cherry AL, Finta C, Karlstrom M, et al. Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation. Acta Crystallogr D Biol Crystallogr 2013;69(Pt 12):2563-2579 https://doi.org/10.1107/S0907444913028473
  11. Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med 2005;7(09):611-619 https://doi.org/10.1097/01.gim.0000182879.57182.b4
  12. Morita K, Naruto T, Tanimoto K, et al. Simultaneous detection of both single nucleotide variations and copy number alterations by next-generation sequencing in gorlin syndrome. PLoS One 2015;10(11):e0140480
  13. Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg 2004;33(02):117-124 https://doi.org/10.1054/ijom.2003.0435
  14. Samela PC, Tosi V, Cervini AB, Bocian M, Bujan MM, Pierini AM. Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital. Actas Dermosifiliogr 2013;104(05):426-433 https://doi.org/10.1016/j.ad.2012.04.002
  15. Stojanov IJ, Schaefer IM, Menon RS, et al. Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors. Am J Surg Pathol 2020;44(04):553-560 https://doi.org/10.1097/PAS.0000000000001407
  16. Gutzmer R, Solomon JA. Hedgehog Pathway Inhibition for the Treatment of Basal Cell Carcinoma. Target Oncol 2019;14(03):253-267 https://doi.org/10.1007/s11523-019-00648-2
  17. Axelson M, Liu K, Jiang X, et al. U.S. Food and Drug Administration approval: vismodegib for recurrent, locally advanced, or metastatic basal cell carcinoma. Clin Cancer Res 2013;19(09):2289-2293 https://doi.org/10.1158/1078-0432.CCR-12-1956
  18. Parren LJMT, Frank J. Hereditary tumour syndromes featuring basal cell carcinomas. Br J Dermatol 2011;165(01):30-34 https://doi.org/10.1111/j.1365-2133.2011.10334.x