Comparison of Symptoms and Disease Progression in a Mother and Son with Gorlin-Goltz Syndrome: A Case Report

Abstract

Background: Gorlin-Goltz syndrome (GGS), also known as basal cell nevus syndrome or nevoid basal cell carcinoma syndrome, is a rare genetic disorder caused by mutations in the PTCH1, PTCH2, or SUFU genes, leading to an increased risk of neoplasms. Craniofacial anomalies are among the most common features of GGS. This paper aimed to highlight the similarities and differences in clinical presentation across different ages and to emphasize the importance of including all family members in the diagnostic process. The diagnosis can often be initiated by a dentist through routine radiographic imaging. Case Presentation: We present a 17-year longitudinal follow-up of a male patient with recurrent multiple odontogenic keratocysts and other manifestations consistent with GGS. Nearly 20 years later, the patient's mother presented with similar clinical features suggestive of GGS. Diagnostic imaging, including contrast-enhanced computed tomography (CT), cone-beam CT, magnetic resonance imaging, and orthopantomography, was performed, and the diagnosis was confirmed through genetic testing. Interdisciplinary management included age-appropriate surgical and dermatological treatments tailored to lesion severity. Conclusions: Given the frequent involvement of the stomatognathic system in GGS, dentists play a critical role in early detection and referral. Comprehensive family-based screening is essential for timely diagnosis, improved monitoring, and effective management of this multisystem disorder.

Keywords: Gorlin–Goltz syndrome; PTCH1 mutation; basal cell carcinoma; basal cell nevus syndrome; genetic testing; nevoid basal cell carcinoma syndrome; odontogenic keratocysts.

Figure 1

Subsequent panoramic radiographs of the son (Case 1), with OKCs indicated by arrows. (a) Initial orthopantomogram (March 2003) shows three radiolucent, well-defined, multilocular lesions (white arrows): one located in the right mandibular body displacing adjacent teeth and bilateral cystic lesions in the maxillary tuberosity regions, all associated with impacted third molars. (b) Follow-up radiograph (September 2003) after surgical removal of the mandibular lesions. Cystic lesions in the maxillae persist, (c) Radiograph from November 2004 reveals recurrence of mandibular lesions in the same location previously operated (marked with arrows), indicating high recurrence potential of OKCs. (d) In the 2010 image, new osteolytic lesions are visible in the left mandibular ramus and adjacent to the root of tooth 45 (arrows), again without evidence of root resorption. This image illustrates ongoing disease progression and recurrence despite multiple surgical interventions.

Figure 2

Imaging evidence of bilamellar calcification of the falx cerebri (arrows), a radiological hallmark of Gorlin–Goltz syndrome. (a) Coronal cone-beam CT (CBCT) scan in the son (Case 1) showing linear midline calcification along the falx cerebri; (b) Axial contrast-enhanced CT scan in the mother (Case 2) demonstrating extensive falx cerebri calcifications, clearly visible as linear hyperdense structures within the interhemispheric fissure.

Figure 3

Microphotograph of the cystic lesion excised in April 2017. Hematoxylin and eosin stain. The image shows a parakeratinized stratified squamous epithelial lining (A) and laminated keratin masses within the cystic lumen (B), consistent with an odontogenic keratocyst.

Figure 4

CBCT scan of the mandible (2023) in Case 1 showing no evidence of new osteolytic lesions. (a) Coronal/horizontal reconstruction reveals a previously affected area in the left mandibular body (arrow), now demonstrating sparse trabecular bone with partial radiodensity, consistent with bone remodeling and healing after cyst enucleation. (b) Sagittal view confirms a well-defined area of low bone density surrounded by sclerotic borders (arrow), indicative of previous OKC location. (c) Cross-sectional view through the same region shows radiolucent characteristics with peripheral bone thickening (arrow), suggesting ongoing remodeling rather than active pathology. These findings reflect post-surgical changes and stable healing, with no signs of recurrence or new cystic lesions.

Figure 5

Extraoral clinical presentation in the mother (Case 2), showing multiple cutaneous lesions suspicious for basal cell carcinoma. (a) Nodular lesions with rolled borders on the lower right eyelid and right lateral canthus. (b) Ulcerated nodule in the left eyebrow region. (c) Dark, crusted lesion resembling a pigmented basal cell carcinoma at the right oral commissure.

Figure 6

Panoramic radiograph of the mother (Case 2), taken in March 2021. Arrows indicate two well-defined radiolucent lesions in the left mandibular body and ramus, radiographically consistent with odontogenic keratocysts (OKCs).