Nevoid basal cell carcinoma syndrome: A case report
Keywords:
nevoid basal cell carcinoma syndrome, Gorlin syndrome, basal cell carcinoma, odontogenic keratocystAbstract
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant inherited condition mainly caused by mutations in the patched tumor suppressor gene (PTCH1). Prevalence rates vary by region. This syndrome is characterized by multiple basal cell carcinomas, as well as odontogenic keratocysts (OKC) in the jaw and other abnormalities involving the skeletal, central nervous system, ophthalmic, endocrine, and genital systems. This syndrome may be diagnosed by a plastic surgeon or dermatologist in patients who present with multiple basal cell carcinomas or by a dentist in patients who present with OKC. Early diagnosis and a multidisciplinary approach to treatment are important for decreasing the progression and severity of this syndrome, as well as improving the patient’s quality of life. Here, we report a case of nevoid basal cell carcinoma syndrome with a suspected high-grade glioma in a 38-year-old Thai man.
References
Gorlin RJ, Golt RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960;262:908-12.
Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome: unanswered issues. J Lab Clin Med 1999;134:551-2.
Evans DG, Howard E, Giblin C, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 2010;152A:327-32.
Shanley S, Ratcliffe J, Hockey A, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 1994;50:282-90.
Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review. Pediatr Int 2014;56:667-74.
Manfredi M, Vescovi P, Bonanini M, et al. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Sur 2004;33:117-24.
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.
Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996;272:1668-71.
Cohen MM Jr. Nevoid basal cell carcinoma syndrome: molecular biology and new hypotheses. Int J Oral Maxillofac Surg. 1999;28(3):216-23.
StatPearls [Internet]. Treasure island (FL): StatPearls Publishing; 2024 [Updated 2023 Aug] -. Gorlin syndrome. [cited 2024 Jan 10]; [about 2 p.]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK430921/.
Evans DG, Ladusans EJ, Rimmer S, et al. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 1993;30:460-4.
Brellier F, Valin A, Chevallier-Lagente O, et al. Ultraviolet responses of Gorlin syndrome primary skin cells. Br J Dermatol 2008;159:445-52.
Tomasso D, Assi EB, Nguyen DK. GorlinGoltz syndrome and epilepsy: A two-case report and review of the literature. Epilepsy Behav Rep 2020;14:100384.
Patil K, Mahima VG, Gupta B. Gorlin syndrome: A case report. J Indian Soc Pedod Prev Dent 2005;23:198-203.
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;19:2289-93.
Jain S, Song R, Xie J. Sonidegib: Mechanism of action, pharmacology, and clinical utility for advanced basal cell carcinomas. Onco Targets Ther 2017;10:1645-53.
Lata J, Verma N, Kaur A. Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature. Contemp Clin Dent 2015;6:S192-201.
Lo Muzio L, Nocini PF, Savoia A, et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clinical Genetics 1999;55:34-40.
Devakar Y, Krishnan SG, Murgaiyya J. Atypical Gorlin’s syndrome. Indian J Dermatol Venereol Leprol 1995;61:314-6
Gorlin, R. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med 2004;6:530-9.
Wolkow N, Jakobiec FA, Yoon MK. Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal. Surv Ophthalmol 2018;63:711-8.
De Craene S, Batteauw A, Van Lint M, et al. Subconjunctival epidermoid cysts in Gorlin-Goltz syndrome. Orbit 2014;33:280-2.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Journal of Medicine and Health Sciences
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
