Case Study

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome) in Children

S. Binsheikhan
NMC Royal Hospital, United Arab Emirates
S. Mittal
NMC Royal Hospital, United Arab Emirates
* Corresponding author
M. Al Abadie
The Royal Wolverhampton NHS Trust, United Kingdom
DOI icon 10.24018/ejmed.2021.3.5.888

Read Counter
864

Downloads
406

Citations

Share

Article Sidebar

Submitted 2021-05-22
Published 2021-09-30

Read counter = 864 times

Table of Contents

Article Main Content

Introduction: Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCC) at a young age.

Case report: A 7 year female child presented with MULTIPLE skin growths on the neck, face and upper chest for 3 years, with prominent forehead and mild non-scarring alopecia. She also had a history of medulloblastoma treated 3 years ago. There was no significant family history. Biopsy from one of the lesions showed basal cell carcinoma (BCC).

Discussion: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder caused by mutations in the tumour suppressor patched 1 (PTCH-1) gene. Patients present with both cutaneous and extra-cutaneous manifestations. Multiple basal cell carcinomas (BCCs) are one of the most frequent cutaneous manifestations, occurring on both photo-exposed and non-exposed areas. The commonest extra-cutaneous tumours are medulloblastomas, which are often the first presentation of the disease. There are multiple but no established treatment modalities for the disease.

Keywords: Gorlin syndrome, medulloblastoma, nevoid basal cell carcinoma syndrome

References

  1. F. Bree, M. R. Shah, “Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS)”, Am. J. Med. Genet., vol. 155, pp.2091-2097, 2011.
     Google Scholar
  2. H. Hahn, C. Wicking, P. G. Zaphiropoulous, M. R. Gailani, S. Shanley, A. Chidambaram…A. E. Bale “Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome”, Cell, vol. 72, no. 6, pp. 841-851, Jun 1996.
     Google Scholar
  3. R. Gorlin, “Nevoid basal-cell carcinoma syndrome” Medicine (Baltimore),vol. 66, pp. 98-113, 1987.
     Google Scholar
  4. Palacios-Álvarez, R. González-Sarmiento, E. Fernández-López, “Síndrome de Gorlin”, Actas Dermosifiliogr, vol. 109, pp. 207-217, 2018.
     Google Scholar
  5. S. F. Amlashi, L. Riffaud, G. Brassier, X. Morandi, “Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature”, Cancer, vol. 98, pp. 618-624, 2003.
     Google Scholar
  6. Sekulic, M. R. Migden, K. Lewis, J. D. Hainsworth, J. A. Solomon, S. Yoo … A. Hauschild “Pivotal ERIVANCE basal cell carcinoma (BCC) study: 12 month update of efficacy and safety of vismodegib in advanced BCC”, J. Am. Acad. Dermatol., vol. 72, pp. 1021-1026, 2015.
     Google Scholar
  7. S. Y. Wong, A. A. Dlugosz, “Basal cell carcinoma. Hedgehog signaling, and targeted therapeutics: the long and winding road”, J. Invest. Dermatol., vol. 134, pp. E18-22, 2014.
     Google Scholar