Eye spy: A case of a corneal lesion in an 8-year-old girl

The Case

An 8-year-old previously healthy female presents to the pediatrician’s office to establish care after recently moving to the United States from Peru 3 months ago. Past medical history is significant for mild intermittent asthma. Past surgical history is significant for the removal of left-sided preaxial polydactyly as well as the removal of right-sided preauricular appendage while living in Peru. Patient is not currently taking medications and is otherwise healthy. Immunizations are up to date. Physical exam is notable for a tan colored lesion on the left eye that Mom states has been present since birth. Mom reports that they saw an eye doctor in Peru who would not remove the lesion due to its proximity to the pupil. Mom reports no significant change in the size of the lesion since onset. The child is not bothered by the lesion and can close eyelids without difficulty. 

Examination and studies

Physical exam shows pupils are equal and reactive, and extraocular eye movements are intact. Cranial nerves II-XII are intact, and there are no visual field deficits. Physical exam is also pertinent for facial and chest asymmetry, with noted hypoplasia of the left side of the face. Small hypopigmented scars are noted on the lateral aspect of the left first digit as well as the preauricular area of the right ear. The patient is referred to Ophthalmology and Genetics for further evaluation. Ophthalmology exam consisted of visual acuity (R: 20/20 L: 20/20), tonometry (R: 24 L: 23), and visual field testing (R: Full L: Full).

Differential diagnosis

The differential diagnosis for this child’s initial presentation included pinguecula, pterygium, lipodermoid, and more, as listed in Table 1.

Diagnosis

Ophthalmic exam confirmed the lesion was most consistent with limbal dermoid.

The condition

In addition to the confirmation of a limbal dermoid, the patient’s preaxial polydactyly, preauricular appendage, facial hypoplasia, and chest wall asymmetry were concerning for Goldenhar syndrome. This diagnosis was ultimately supported by Ophthalmology and Genetics. The syndrome was first described in 1952 by ophthalmologist Maurice Goldenhar.¹ This spectrum results from malformations of structures derived from the first and second pharyngeal arches, including eyes, mouth, ear, maxilla, and mandible.¹ The classic presentation includes microtia or preauricular tags, facial asymmetry, and epibulbar dermoid or lipodermoid.¹ Patients may have hearing impairment as a result of complex malformations of the inner and outer ear.² The etiology of Goldenhar syndrome is multifactorial, involving both genetic and environmental factors. Environmental factors may include disruption of embryonic blood flow during development, DM during pregnancy, multiple birth pregnancy, maternal hypothyroidism, and exposure to drugs such as Tamoxifen and thalidomide.¹ Early diagnosis is essential to prevent ocular and systemic complications, and children should have complete ophthalmic evaluations completed at the time of presentation.

Management

Management of dermoids depends upon the grade and extent of the lesion and can include surgical excision. Due to the involvement of multiple organ systems, long-term regular follow-up by a multidisciplinary team is crucial to monitoring growth and development.³

Patient course

The patient was given supportive care and continued to follow up with Ophthalmology and Genetics. Supportive/surgical treatment was discussed with the patient’s mother, including obtaining an MRI of the brain with and without contrast to evaluate for midline intracranial structures. After discussion with Ophthalmology, it was explained that the limbal dermoid cannot be removed, as this may leave the cornea structurally unsound. The team recommended follow-up with a corneal specialist to assess if surgery can be done to address astigmatism. After meeting with Genetics, the decision was made to proceed with a chromosome microarray to assess for genetic etiology.

Discussion

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital malformation characterized by hemifacial microsomia with ocular abnormalities as well as vertebral/spinal anomalies.² The classic presentation includes hemifacial microsomia, or underdevelopment of one side of the face, benign growths on the surface of the eye, and ear anomalies including microtia, preauricular skin tags, or hearing loss. When a patient is diagnosed with Goldenhar syndrome, they should be followed by a multidisciplinary team including a pediatrician, otolaryngologist, ophthalmologist, a geneticist or genetic counselor to help understand inheritance patterns, and possibly a craniofacial surgeon if needed.

Disclosure

Scanlon, Mondello, and Haile have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

References

1. Singhal D, Tripathy K. Oculo Auriculo Vertebral Spectrum. In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 25, 2023.
2. Skarzyński H, Porowski M, Podskarbi-Fayette R. Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). Int J Pediatr Otorhinolaryngol. 2009;73(7):915-921. doi:10.1016/j.ijporl.2009.01.015
3. Tuna EB, Orino D, Ogawa K, et al. Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases. J Oral Sci. 2011;53(1):121-124. doi:10.2334/josnusd.53.121