Gorlin-Goltz Syndrome: A Multisystem Disorder Unveiled Through Jaw and Pelvic Pain in a 25-Year-Old Woman

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Gorlin-Goltz Syndrome: A Multisystem Disorder Unveiled Through Jaw and Pelvic Pain in a 25-Year-Old Woman

Introduction

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant condition with multisystem involvement. Early clinical presentation may include odontogenic keratocysts (OKCs), basal cell carcinomas (BCCs), skeletal anomalies, and ovarian fibromas. This column explores a clinical case of a 25-year-old female presenting with jaw and pelvic pain, ultimately diagnosed with Gorlin-Goltz syndrome, and reviews the underlying pathology, clinical features, diagnostic imaging, and management strategies of the syndrome.

Clinical Case Summary

A 25-year-old woman presented with chronic jaw and pelvic pain. Her medical history revealed prior surgical treatment for jaw pain, recurrent skin neoplasms later diagnosed as basal cell carcinomas, and a history of medulloblastoma. She also underwent a partial cystectomy six years earlier due to bilateral ovarian masses measuring up to 4–5 cm.

Imaging Studies

Head CT (Non-contrast):

  • Scout image revealed calcification along the falx cerebri, a hallmark of GGS.

Figure 1. Calcified falx cerebri on scout view CT of the brain.

  • Bone algorithm CT reconstruction showed a hypoattenuating lesion involving the posterior right maxilla, consistent with a recurrent odontogenic keratocyst (OKC).

Figure 2. Hypoattenuating lesion in the right maxilla consistent with odontogenic keratocyst.

Pelvic MRI (Contrast-enhanced):

  • A heterogeneously enhancing solid mass was noted in the right ovary, with T2 hypointensity and cystic degeneration, characteristic of an ovarian fibroma.

Figure 3. MRI pelvis showing T2-hypointense solid mass in the right ovary with peripheral cystic changes, typical for ovarian fibroma.


Discussion

Etiology and Pathophysiology

Gorlin-Goltz syndrome is caused by mutations in the PTCH1 gene, a tumor suppressor gene located on chromosome 9q22.3, encoding the patched-1 receptor in the hedgehog signaling pathway. The dysregulation of this pathway results in abnormal tissue growth and tumor development.

Epidemiology

  • Global prevalence ranges from 1 in 50,000 to 1 in 150,000.

  • GGS is often diagnosed between the ages of 10–30.

  • Slight female predominance is observed.

Clinical Presentation

Major diagnostic criteria (based on Kimonis et al.) include:

  • Multiple basal cell carcinomas

  • Odontogenic keratocysts of the jaw

  • Palmoplantar pits

  • Falx cerebri calcification

  • Bifid ribs or vertebral anomalies

Minor criteria include:

  • Ovarian fibromas

  • Macrocephaly

  • Cleft lip/palate

  • Medulloblastoma

  • Congenital skeletal anomalies

This patient fulfilled at least three major and two minor diagnostic criteria, solidifying the diagnosis of GGS.

Imaging Features

CT and Radiographs:

  • Multiloculated radiolucent jaw lesions with sclerotic margins (odontogenic keratocysts)

  • Linear falx cerebri calcification (early and pathognomonic)

  • Rib anomalies (bifid, fused, or hypoplastic)

MRI:

  • Ovarian fibromas: T1 hypointense, T2 hypointense masses with mild enhancement and occasional cystic changes.

  • CNS involvement may include medulloblastoma or meningioma.

Treatment Strategies

  1. Odontogenic keratocysts (OKCs):

    • Surgical enucleation, sometimes supplemented with Carnoy’s solution or cryotherapy, is used to reduce recurrence.

    • Long-term follow-up due to recurrence rates of 30–60%.

  2. Ovarian fibroma:

    • Management ranges from conservative observation to ovarian-sparing surgery or oophorectomy, depending on size, symptoms, and fertility considerations.

  3. Basal cell carcinomas:

    • Topical treatments (imiquimod), surgical excision, or photodynamic therapy.

    • Avoidance of radiation due to increased secondary malignancy risk.

Prognosis

While GGS is a chronic genetic disorder, early diagnosis, regular surveillance, and multidisciplinary management can significantly improve quality of life and reduce complications from tumors and skeletal deformities. Life expectancy is generally normal, but morbidity is influenced by the number and severity of neoplasms.

Quiz

1: What is the main finding from scout imaging of the CT head?

A. Frontalis hyperostosis interna
B. Calcified meningioma
C. Calcified choroid plexus
D. Calcified falx cerebri ✅

Explanation: Linear calcification of the falx cerebri is one of the major diagnostic criteria of Gorlin-Goltz syndrome.

2: What is the main CT finding in the maxilla?
A. Osteosarcoma
B. Mandibular abscess
C. Nasal sinus disease
D. Hypoattenuating cyst involving the maxilla ✅

Explanation: A hypoattenuating lesion consistent with an odontogenic keratocyst, characteristic of GGS.

3: What is the most likely abnormality in the right ovary?

A. Ovarian fibroma ✅
B. Endometrioma
C. Metastatic basal cell carcinoma
D. Serous cystadenoma
E. Immature teratoma

Explanation: Low T2 signal and mild enhancement are characteristic of fibromas, common in GGS.

4: What is the most likely diagnosis given a history of basal cell carcinomas, odontogenic cysts, and ovarian fibromas?
A. Xeroderma pigmentosum
B. Bloom syndrome
C. Hereditary BCC
D. Meigs syndrome
E. Gorlin-Goltz syndrome ✅
F. Peutz-Jeghers syndrome
G. Gunal-Seber-Basaran syndrome

Explanation: This triad is classic for Gorlin-Goltz syndrome, meeting the major diagnostic criteria.

Conclusion

This case exemplifies the need for radiologists and clinicians to consider genetic syndromes when presented with seemingly isolated complaints, such as jaw or pelvic pain. The constellation of findings, including odontogenic keratocysts, falx cerebri calcification, ovarian fibroma, and a history of basal cell carcinoma, is diagnostic of Gorlin-Goltz syndrome. Early recognition enables better management of complications, surveillance for neoplasms, and genetic counseling for patients and their families.

References

[1] P. S. Joshi, V. Deshmukh, and S. Golgire, "Gorlin-Goltz syndrome," Dent Res J (Isfahan), vol. 9, no. 1, pp. 100–106, 2012.

[2] V. E. Kimonis et al., "Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC) syndrome," Genet Med, vol. 6, pp. 495–502, 2004.

[3] M. Lima and T. M. Cunha, "MRI Characterisation of T2 hypointense ovarian lesions," Acta Radiol Port, vol. 30, no. 2, pp. 9–20, 2018.

[4] R. Seracchioli et al., "Conservative treatment of recurrent ovarian fibromas in a young patient affected by Gorlin syndrome," Hum Reprod, vol. 16, no. 6, pp. 1261–1263, 2001.

[5] I. Saulite et al., "Incidental finding of lamellar calcification of the falx cerebri leading to the diagnosis of Gorlin-Goltz syndrome," Case Rep Dermatol, vol. 5, no. 3, pp. 301–303, 2013.

[6] F. Spadari et al., "Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones," Maxillofac Plast Reconstr Surg, vol. 44, no. 1, p. 25, 2022.

[7] R. Weissleder, J. Wittenberg, and M. G. Harisinghani, Primer of Diagnostic Imaging, 3rd ed., Philadelphia: Mosby, pp. 630, 2003.


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