Epibulbar Dermoid Cyst in Goldenhar Syndrome: A Case Report and Review of Management

Abstract

Background and Aims: Goldenhar syndrome is a rare condition that causes a defect in the development of structures derived from the first and second branchial arches, manifesting with a wide range of symptoms, including ocular, auricular, and vertebral abnormalities. The objective of this case presentation is to disseminate knowledge about Goldenhar syndrome, to promote timely diagnosis and surgical intervention in order to improve functional and cosmetic outcomes in these patients. Case Report: We report the case of a four-year-old girl whose parents complained primarily of a growth on her left eye, present since birth and which, according to them, had progressively increased in size over the years. On examination, we observed a large, rounded mass straddling the temporal limbus of the left eye, with a few fine hair follicles, consistent with a limbal dermoid cyst. The lesion was further characterized by B-mode ultrasound, which revealed a mass with a hyperechoic anterior wall and a hypoechoic core, resting on the cornea without invasion of Descemet's membrane or the anterior chamber. An oculo orbital Magnetic Resonance Imaging was also performed, showing a well-defined prelimbic lesion in the left eye, measuring 8.5 x 4.8 x 14 mm, hyperintense on T1- and T2 sequences, without enhancement after contrast injection. The evaluation of systemic malformations revealed the bilateral presence of multiple preauricular appendages. The overall clinical presentation was consistent with an epibulbar dermoid cyst within the context of Goldenhar syndrome. Regarding the management of the dermoid cyst, we opted for complete excision, combined with a multilayer amniotic membrane graft secured with 7-0 Vicryl to cover the wound. Histopathological examination confirmed the dermoid nature of the cyst. The patient then benefited from regular follow-up, with very satisfactory postoperative results and good healing. Conclusion: Goldenhar syndrome is a rare congenital disorder with highly variable clinical manifestations. Epibulbar dermoid cysts are the characteristic ocular manifestation, and their treatment aims for a dual objective: preserving visual function and improving cosmetic appearance. Management can range from a conservative approach with optical correction and simple monitoring to more invasive surgical excision, combined with various techniques for reconstructing the resulting defect.