BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
METHODS: A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS: The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.

To date, there is no definite effective target therapy or cure for nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome). Basal cell carcinoma is frequently the far most increased risk of this syndrome, including predisposition to other malignancies. In 2015, an 11-year-old female with a past medical history of sickle cell trait, oral, and unilateral knee abscesses presented with multiple visits for various nodules covering the hands and chest, as well as posterior knee cysts. Genetic testing confirmed the diagnosis. The key to treatment and surveillance relies on appropriate recognition, management of atypical presentations, and offering appropriate genetic counseling to families.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises of a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple keratocystic odontogenic tumors. Diagnosis may be difficult because of the variability of expressivity and different ages of onset for different traits of this disorder. The dental clinician may be the first to encounter and identify this syndrome, when the multiple cysts like radiolucencies are discovered on panoramic view. This article reports a case of Nevoid basal cell carcinoma syndrome and provides an overview on diagnosis and management.