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Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex
Florentina Joyce Freiberg1, Erdmute Kunstmann2, Thomas König3
1Stadtspital Triemli, Department of Opthalmology, Zurich, Switzerland.
Insights
Tuberous sclerosis complex (TSC) should be considered in cases of conjunctival lymphangioma. This rare genetic disorder can manifest with ocular and skin findings, as seen in a pediatric case.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Presents a rare case of conjunctival lymphangioma in a pediatric patient.
- Highlights the association between ocular manifestations and tuberous sclerosis complex (TSC).
Observation:
- A 4-year-old girl with a relapsing cystic conjunctival lesion and facial swelling.
- Clinical examination revealed characteristic skin lesions of TSC, including hypomelanotic macules and a Shagreen patch.
- MRI confirmed intracranial and orbital abnormalities consistent with TSC.
Findings:
- Genetic analysis identified a deletion in the TSC1 gene, confirming the diagnosis of tuberous sclerosis complex.
- The conjunctival lymphangioma was associated with significant systemic findings of TSC.
- No visual impairment was noted despite the ocular lesion.
Implications:
- Conjunctival lymphangioma may be an early indicator of tuberous sclerosis complex.
- Emphasizes the importance of a multidisciplinary approach in diagnosing and managing TSC.
- Suggests that TSC should be a primary consideration in the differential diagnosis of conjunctival lymphangiomas.
Abstract:
Background: To present a case of conjunctival lymphangioma in a 4-year-old girl with tuberous sclerosis complex. Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like dilation of lymphatic vessels and right-sided facial swelling with mild pain. Best-corrected vision was not impaired. Examination of the skin revealed three hypomelanotic macules and a lumbal Shagreen patch. Magnetic resonance imaging (MRI) findings displayed minimal enhancement of buccal fat on the right side. Cranial and orbital MRI showed signal enhancement in the right cortical and subcortical areas. Genetic analysis revealed a heterozygous deletion encompassing exon 1 and 2 of the TSC1 gene (tuberous sclerosis complex 1 gene), confirming the diagnosis of tuberous sclerosis complex. Conclusion: In conjunctival lymphangioma, tuberous sclerosis complex should be considered as the primary disease.
