Journal of

Case Reports and Images in Ophthalmology

 
   
Case Report
 
Gorlin-Goltz syndrome: A rare potentially malignant disease

George Michael N. Sosuanl, Alberto C. Chaconl
1Resident, Department of Ophthalmology and Visual Sciences, Sentro Oftalmologico Jose Rizal, University of the Philippines, Philippine General Hospital, Philippines, Manila

Article ID: 100001Z17GS2018
doi: 10.5348/100001Z17GS2018CR

Corresponding Author:
George Michael Ngo Sosuan,
Resident, Department of Ophthalmology and Visual Sciences,
Sentro Oftalmologico Jose Rizal, University of the Philippines,
Philippine General Hospital, Philippines, Manila

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How to cite this article
Sosuan GMN, Chacon AC. Gorlin-Goltz syndrome: A rare potentially malignant disease. J Case Rep Images Opthalmol 2018;1:100001Z17GS2018.


ABSTRACT

Introduction: The Gorlin-Goltz Syndrome is rare but well-known multi-systemic syndrome. This case report highlights a Gorlin-Goltz Syndrome with left orbital and multiple facial basal cell carcinoma, calcified falx cerebri with cyst in the right mandible.
Case Report: A 47-year-old female presented with a 30 year history of slowly enlarging left periorbital mass eventually encroaching the left orbit. On gross examination, multiple nodular hyperpigmented masses with rolled edges on the entire left periorbital area with extension to the left orbit and globe and two 1x1 centimeter hyperpigmented nodular masses on both paranasal areas. The left globe was phthisical and enophthalmic with positive reverse relative afferent pupillary defect. The examination of the right eye, palms and phalanges was essentially normal. The patient underwent orbital exenteration, excision of left and right paranasal masses and enucleation of the right mandible cyst. The histopathology of the orbital and paranasal masses revealed basal cell carcinoma. Cranial computerized tomography revealed calcified falx cerebri. Transvaginal ultrasound revealed normal results. Chest radiograph showed no bifid ribs.
Conclusion: The importance of increasing awareness for early diagnosis and multi-disciplinary approach on treatment of this syndrome is of utmost importance to prevent life-threatening and vision-impairing complications of this disease. Frequent follow up and genetic counselling should be provided.

Keywords: Basal cell carcinoma, Calcified falx cerebri, Gorlin-Goltz



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Acknowledgements
The authors thank the Orbit Service of the University of the Philippines-Philippine General Hospital Department of Ophthalmology and Visual Sciences for the support and guidance in making this paper.
Author Contributions
George Michael N. Sosuan – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Alberto C. Chacon – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of Submission
The corresponding author is the guarantor of submission.
Source of Support
None
Consent Statement
Written informed consent was obtained from the patient for publication of this case report.
Conflict of Interest
Authors declare no conflict of interest.
Copyright
© 2018 George Michael N. Sosuan et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.



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