Nevoid basal cell carcinoma syndrome: a case report and literature review

ABSTRACT

Background

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder associated with basal cell carcinomas (BCC), skeletal anomalies, and jaw cysts, and a number of ocular abnormalities. We describe a case of a 12-year-old boy diagnosed with NBCCS found to have several ophthalmic manifestations including a myelinated retinal nerve fiber. We conducted a literature review targeting the ocular and systemic manifestations of NBCCS, with a focus on the ophthalmic findings that have not been well characterized.

Materials and Methods

We conducted a literature search from 1960 to 2021 utilizing specific keywords and criteria and excluded non-clinical articles. A total of 46 articles were ultimately used for the literature review.

Results

In NBCCS, BCCs typically present before the age of 30 and gradually become numerous. Certain ocular features, less common in the general population, are much more common with NBCCS. Depending on the study, prevalence of these features in patients with NBCCS ranges from 26–80% for hypertelorism and 7–36% for myelinated retinal nerve fiber layer. Prevalence of nystagmus in patients with NBCCS was found to be approximately 6%. Systemic findings such as bilamellar calcification of the falx cerebri, palmar pits, and odontogenic keratocysts (OKCs) are also prevalent.

Conclusion

NBCCS may affect numerous organ systems, and thus requires a multidisciplinary team to manage. BCCs and jaw cysts are commonly occurring clinical features that have various surgical excisional options. The ocular anomalies of NBCCS are individually rare, and certain anomalies may present in the amblyogenic period of development and contribute to visual impairment.

KEYWORDS:

• NBCCS
• Gorlin syndrome
• basal cell carcinoma
• ocular
• myelinated retina

Disclosure statement

In accordance with Taylor & Francis policy and my ethical obligation as a researcher, I am reporting that Dr. Couser on the Patient-Centered Outcomes Research Institute (PCORI) Advisory Panel on Rare Disease and is involved in a clinical trial with Retrophin, Inc. Dr. Couser is also involved in a clinical trial with the National Cancer Institute/Children’s Oncology Group and is a book editor for Elsevier. I have disclosed those interests fully to Taylor & Francis, and I have in place an approved plan for managing any potential conflicts arising from those involvements.

The authors note no other conflicts of interest and are solely responsible for the content and writing of this paper.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.