Gorlin’s syndrome and ocular manifestation

Authors

  • María del Valle Acuña Hospital San Martín. Paraná
  • Mariela Ogusuku Hospital San Martín. Paraná, (Entre Ríos) Argentina.
  • Walter Briggiler Hospital San Martín. Paraná, (Entre Ríos) Argentina.

DOI:

https://doi.org/10.70313/2718.7446.v18.n2.424

Keywords:

Gorlin’s syndrome

Abstract

Objectives: To describe the clinical and ophthalmologic features of Gorlin's syndrome, based on a case report.

Case report: A 58-year-old male patient with a history of facial melanoma, who had left frontotemporal myiasis on hyperpigmented lesion and palpebral involvement, in addition to malformation of teeth and multiple facial nodular hyperpigmented lesions was consulted. Vision was severely compromised. After consultation with the head and neck surgery, oncology and dentistry services, a presumptive diagnosis of Gorlin's syndrome was made, based on the multisystemic signs observed. The patient left the clinic and returned three months later with worsening of the fourth episode. A CT scan showed a mass occupying the vertex of the left orbit. It was decided to hospitalize him, due to the clinical and social context of the patient. Surgical toilette was performed, biopsies were taken and future therapeutic guidelines were evaluated, including the use of Vismodegib as an option, but they could not be performed since the patient signed his voluntary discharge and has not returned to the institution.

Conclusion. In the case presented, the main characteristics of Gorlin syndrome were identified by means of interconsultations between different specialties: basal cell carcinomas in different regions, mandibular keratocystic tumors and skeletal anomalies, together with ophthalmologic manifestations. Unfortunately, due to social conditions it was not possible to follow up the case.

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Author Biographies

  • María del Valle Acuña, Hospital San Martín. Paraná
    • Servicio de Oftalmología del Hospital San Martín. Paraná, (Entre Ríos) Argentina.
  • Mariela Ogusuku, Hospital San Martín. Paraná, (Entre Ríos) Argentina.

    Hospital San Martín. Paraná, (Entre Ríos) Argentina.

  • Walter Briggiler, Hospital San Martín. Paraná, (Entre Ríos) Argentina.

    Servicio de Oftalmología del Hospital San Martín. Paraná, (Entre Ríos)
    Argentina.

References

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7. Evans DG, Oudit D, Smith MJ et al. First evidence of genotype-phenotype correlations in Gorlin syndrome. J Med Genet 2017; 54(8): 530-536. doi:10.1136/jmedgenet-2017-104669.

8. Palmeiro AG, Carvalho M, Gonçalves Castro C, Pimentel B, Catorze G. Vismodegib in Gorlin-Goltz syndrome: a systematic review. Australas J Dermatol 2024; 65(6): e123-e133. doi:10.1111/ajd.14326.

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Published

2025-06-30

Issue

Section

Case Report

How to Cite

[1]
2025. Gorlin’s syndrome and ocular manifestation. Oftalmología Clínica y Experimental. 18, 2 (Jun. 2025), e236-e242. DOI:https://doi.org/10.70313/2718.7446.v18.n2.424.

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